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Sample records for congenital renal dysplasia

  1. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

    PubMed

    Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

    2013-11-01

    The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

  2. Transumbilical multiport laparoscopic nephroureterectomy for congenital renal dysplasia in children: midterm follow-up from a single institution.

    PubMed

    Mei, Hong; Qi, Teng; Li, Shuai; Pu, Jiarui; Cao, Guoqing; Tang, Shaotao; Zheng, Liduan; Tong, Qiangsong

    2013-01-01

    To assess the clinical utility and efficiency of transumbilical multiport laparoscopic nephroureterectomy (TMLN) for the treatment of congenital renal dysplasia in children by analyzing consecutive cases from a single institution. Sixteen children underwent TMLN procedure due to dysplastic kidney between January 2010 and December 2011. The surgery was transperitoneally performed through three transumbilical incisions for two 5-mm and one 3-mm ports, which duplicated the standard laparoscopic steps with the usual laparoscopic instruments. Demographic, perioperative, and follow-up data were analyzed. TMLN was performed in all patients, without additional ports or conversion to open surgery. The mean operation time was 108.4 min (range 90-125), and the blood loss was minimal. There were no severe intraoperative or post-operative complications. The post-operative recovery was uneventful in all patients. No urinary incontinence or umbilical hernias occurred. The cosmetic result was excellent as the incision scar was hidden inside the belly button. TMLN is a safe and efficient procedure for the management of congenital renal dysplasia in children with good cosmesis. Future randomized studies with a larger number of cases and a longer follow-up are warranted to elucidate the benefits and limitations of TMLN in children.

  3. Unilateral congenital giant megaureter with renal dysplasia compressing contralateral ureter and causing bilateral hydronephrosis: a case report and literature review.

    PubMed

    Yu, Mingming; Ma, Geng; Ge, Zheng; Lu, Rugang; Deng, Yongji; Guo, Yunfei

    2016-02-09

    Congenital giant megaureter (CGM) is uncommon in the pediatric population. The major clinical presentations are marked protruberances and abdominal cysts. We reported a case of CGM with almost the whole left ureter dilation accompanied with a 1 cm stricture at the entrance of the bladder and renal dysplasia, immediately compressing the contralateral ureter and causing bilateral hydronephrosis for the first time. At one-stage of the operation, a left nephrostomy with a right ureterolysis were performed, and a poor left kidney function was found. Then, the left kidney and ureter were cut off by nephroureterectomy at the second-stage. Eventually, the follow-up showed that the patient recovered well by abdominal ultrasound. Based on the findings of these reported literatures, CGM is rare. The physical and imaging examinations are essential for the diagnosis of CGM, and the appropriate treatment methods should be performed based on patients' specific condition.

  4. An 8-month-old boy with congenital fibromuscular dysplasia presenting with shock caused by sudden renal hemorrhage.

    PubMed

    Takano, K; Kawasaki, Y; Imaizumi, T; Ohara, S; Takeyama, A; Suyama, K; Hashimoto, K; Hosoya, M

    2010-11-01

    Fibromuscular dysplasia (FMD) is a non-atheromatous, non-inflammatory, multifocal segmental angiopathy. FMD is the most common cause of pediatric renovascular hypertension. Aneurysmal formation of the main renal artery and distal branches is a rare complication of FMD in infancy. We report an 8-month-old boy with FMD presenting with shock caused by sudden renal hemorrhage that necessitated removal of one kidney. A diagnosis of renovascular hypertension resulting from intimal type FMD with aneurysmal formation was made on the basis of the presence of hypertension, elevation of PRA and aldosterone activity, pathological findings and the results of renal angiography. Our findings suggest that it is therefore necessary to consider FMD with aneurysmal formation as a possible cause of hypertension and renal hemorrhage in infants.

  5. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia.

    PubMed

    Grattan-Smith, J Damien; Little, Stephen B; Jones, Richard A

    2008-01-01

    MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy.

  6. Renal dysplasia in Beagle dogs: four cases.

    PubMed

    Bruder, Marc C; Shoieb, Ahmed M; Shirai, Norimitsu; Boucher, Germaine G; Brodie, Thomas A

    2010-12-01

    Anomalies of renal development comprise abnormalities in the amount of renal tissue (agenesis and hypoplasia); anomalies of renal position, form, and orientation; and renal dysplasia. There are previous reports of canine renal dysplasia in different breeds but none in the Beagle breed. This is the first report of renal dysplasia in this breed of dog. Morphologic descriptions of the range of microscopic features observed in four cases of renal dysplasia from preclinical studies in laboratory Beagle dogs are presented (including persistent primitive mesenchyme, persistence of metanephric ducts, asynchronous differentiation of nephrons, and atypical tubular epithelium), along with a basis for the classification of the lesion.

  7. Surgical Treatment of Congenital Mitral Valve Dysplasia.

    PubMed

    Vida, Vladimiro L; Carrozzini, Massimiliano; Padalino, Massimo; Milanesi, Ornella; Stellin, Giovanni

    2016-05-01

    Congenital mitral valve (MV) dysplasia is a relatively rare and highly complex cardiac disease. We present our results and illustrate the techniques used to repair these valves. Between 1972 and 2014, 100 consecutive patients underwent surgical repair of congenital MV dysplasia at our institution. Predominant MV regurgitation was present in 53 patients (53%) whereas mitral stenosis was prevalent in 47 (47%). There were five early (5%) and eight late deaths (9%). Actuarial survival was 95%, 94%, and 93% at 5, 10, and 20 years, respectively. Sixteen patients (18%) required reintervention due to subsequent MV dysfunction. Actuarial freedom from reintervention for MV dysfunction was 95%, 92%, and 89% at 5, 10, and 20 years, respectively. The mechanism underlying the valve dysfunction in congenital mitral valve dysplasia is multifactorial and requires the application of a variety of surgical techniques for repair. doi: 10.1111/jocs.12743 (J Card Surg 2016;31:352-356). © 2016 Wiley Periodicals, Inc.

  8. [Congenital hip dysplasia, screening and therapy].

    PubMed

    Kolb, A; Windhager, R; Chiari, C

    2015-11-01

    Congenital hip dysplasia and hip dislocation are relatively common pathological conditions of the musculoskeletal system in infants. An early and certain diagnosis can now be achieved by sonographic hip screening within the framework of screening examination programs. This early diagnostic procedure in infants is essential particularly for a conservative treatment strategy. Therefore, apart from possessing in-depth knowledge, training of the examiner in specialist courses is of central importance. This article presents an overview of the entity of congenital hip dysplasia and hip dislocation, the diagnostics and treatment with special emphasis on recent developments.

  9. Renal infarction complicating fibromuscular dysplasia.

    PubMed

    Gavalas, M; Meisner, R; Labropoulos, N; Gasparis, A; Tassiopoulos, A

    2014-01-01

    Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disease that most commonly affects the renal and extracranial carotid arteries. We present 3 cases of renal infarction complicating renal artery FMD in 42-, 43-, and 46-year-old females and provide a comprehensive review of the literature on this topic. In our patients, oral anticoagulation therapy was used to treat all cases of infarction, and percutaneous angioplasty was used nonemergently in one case to treat refractory hypertension. All patients remained stable at 1-year follow-up. This is consistent with outcomes in previously published reports where conservative medical management was comparable to surgical and interventional therapies. Demographic differences may also exist in patients with renal infarction and FMD. A higher prevalence of males and a younger age at presentation have been found in these patients when compared to the general population with FMD.

  10. Congenital osteofibrous dysplasia Campanacci: spontaneous postbioptic regression.

    PubMed

    Jobke, Björn; Bohndorf, Klaus; Vieth, Volker; Werner, Mathias

    2014-04-01

    Osteofibrous dysplasia Campanacci is a rare benign bone tumor most frequently observed in young childhood. The exclusive localization in the tibia is very characteristic. The incidence of congenital primary bone tumors is an absolute rarity. We report a case of a newborn with a histologically proven osteofibrous dysplasia Campanacci at the tibia presenting a regular radiographic follow-up. After a small open biopsy and spontaneous minor fracture, the lesion rapidly remodeled within 1½ months and almost completely regressed with restutio ad integrum. Surgical intervention in this tumor entity at childhood age has been shown to have a high recurrence rate but due to lack of experience with newborns, guidelines do not exist. We analyze the radiologic and histologic differential diagnosis of juvenile adamantinoma and emphasize that congenital peripheral bone tumors should be treated conservatively when malignancy is excluded.

  11. Campomelic dysplasia: a rare cause of congenital spinal deformity.

    PubMed

    Dahdaleh, Nader S; Albert, Gregory W; Hasan, David M

    2010-05-01

    Campomelic dysplasia is a rare autosomal dominant syndrome that often results in congenital spinal deformity. As a result of improvements in respiratory care, some patients survive into childhood, requiring treatment of their spinal deformities. We present a neonate who was diagnosed with campomelic dysplasia, resulting in severe cervical and thoracic kyphoscoliosis and respiratory compromise. A review of the literature and reported treatment options are discussed. Campomelic dysplasia is a rare cause of congenital spinal deformity; however, intervention may be appropriate in certain patients.

  12. [Relationship between congenital heart disease and bronchial dysplasia].

    PubMed

    Zeng, Shuang-Lin; Li, Ya-Jun; Huang, Ting; Tan, Li-Hua; Mei, Xi-Long; Sun, Jian-Ning

    2011-11-01

    To study the relationship of the incidence of bronchial dysplasia (bronchial anomalous origin and bronchial stenosis) with congenital heart disease. A total of 185 children with congenital heart disease or bronchial dysplasia were enrolled. Bronchial dysplasia was identified by the 64-MSCT conventional scanning or thin slice scanning with three-dimensional reconstruction. Forty-five children (25.3%) had coexisting bronchial dysplasia and congenital heart disease. The incidence rate of bronchial dysplasia in children with congenital heart disease associated with ventricular septal defect was higher than in those without ventricular septal defect (33.7% vs 15.0%; P<0.05). There were no significant differences in the incidence rate of bronchial dysplasia between the children with congenital heart disease who had a large vascular malformation and who did not. Bronchial dysplasia often occurs in children with congenital heart disease. It is necessary to perform a tracheobronchial CT scanning with three-dimensional reconstruction to identify tracheobronchial dysplasia in children with congenital heart disease, especially associated with ventricular septal defect.

  13. Congenital Ocular Dystopia from Orbitofrontal Bone Dysplasia.

    PubMed

    Swanson, Jordan W; Bartlett, Scott P

    2016-01-01

    Several patients with ocular dystopia and craniofacial differences have been found to have orbital dysplasia and a frontal bone defect. This deformity is characteristically different from differential diagnoses of encephalocele, sphenoid dysplasia, craniofacial dysostoses, or atypical clefting. The authors retrospectively reviewed the craniofacial registries of two pediatric centers for patients presenting with ocular dystopia or orbitofrontal anomalies between 2000 and 2014. The features and treatment of these patients were analyzed. Four patients with congenital orbitofrontal bone dysplasia were identified, three with unilateral and one with bilateral frontal bone defects. Clinical signs of hypoglobus and vertical ocular dystopia of an average of 5.0 mm on the affected side were noted shortly after birth. The transversely oriented bony defect had an average surface area of 3.9 cm in unilateral cases and 10.7 cm in bilateral cases. Patients showed a characteristic orbital vertical elongation with an average orbital height-to-width ratio of 1.30-in excess of the average normal 1.14 by 14 percent-and inferior rim displacement. Cranial contour demonstrated frontal bossing and borderline dolichocephaly. Fronto-orbital reconstruction was performed in three patients, using cranial bone grafting to obliterate the orbital roof defect and elevate the orbital floor, which was successful in reducing ocular dystopia and preserving vision in each patient. One patient followed for 11 years postoperatively has a durable result with no surgical revision. Orbitofrontal bone dysplasia has not been previously reported, and includes a frontal bone defect and ocular dystopia. Single-stage fronto-orbital reconstruction appears to adequately correct it. Therapeutic, IV.

  14. Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia.

    PubMed

    Bellini, C; Villa, G; Sambuceti, G; Traggiai, C; Campisi, C; Bellini, T; Morcaldi, G; Massocco, D; Bonioli, E; Boccardo, F

    2014-03-01

    We performed lymphoscintigraphy on 31 patients (newborns and children) affected by congenital lymphatic dysplasia according to our previously published protocol. Congenital lymphatic dysplasia may present with various degrees of clinical severity, ranging from nonimmune hydrops fetalis with visceral effusions to lymphedema alone. We recommend that lymphoscintigraphy should be strongly considered in all patients with signs of lymphatic dysplasia, including those with minimal and initial signs of lymphatic impairment, in order to obtain a very early diagnosis and to start treatment. Lymphoscintigraphy is safe and useful in the diagnosis of lymphatic dysplasia in the newborn and children. Moreover, it is well tolerated by patients and well accepted by their parents.

  15. Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

    SciTech Connect

    Doody, O.; Adam, W. R.; Foley, P. T.; Lyon, S. M.

    2009-03-15

    Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

  16. Septo-optic dysplasia with bilateral congenital corneal anesthesia.

    PubMed

    Chow, Clement C; Kapur, Rashmi; Wood, Michael G; Setabutr, Pete; Tu, Elmer Y

    2009-10-01

    Septo-optic dysplasia, or de Morsier syndrome, is characterized by optic nerve hypoplasia with an absent septum pellucidum and/or pituitary abnormalities. Congenital corneal anesthesia is a rare disorder that has been associated with many neurological disorders. Here we present a patient with both conditions who was successfully treated with permanent lateral tarsorrhaphy and aggressive lubrication. To our knowledge, congenital corneal anesthesia has not been reported in association with septo-optic dysplasia. The purpose of this report is to make pediatric ophthalmologists aware of a potential association since the diagnosis of congenital corneal anesthesia is often difficult and delayed.

  17. Bilateral renal dysplasia, hydronephrosis, and hydroureter in a septic neonatal foal

    PubMed Central

    Gilday, Rebecca A.; Wojnarowicz, Chris; Tryon, Kimberly A.; Lohmann, Katharina L.

    2015-01-01

    A Canadian warmblood foal treated for septic polyarthritis was diagnosed with bilateral congenital renal dysplasia, hydronephrosis, and hydroureter at 2 weeks of age based on abdominal ultrasound and postmortem examination. Intermittent abdominal pain throughout the course of treatment was attributed to hydronephrosis and hydroureter. PMID:25750445

  18. Rapidly fatal "congenital lung dysplasia": a case report and review of the literature.

    PubMed

    Don, Massimiliano; Orsaria, Maria; Da Dalt, Eva; Tringali, Carmela; Sacher, Bruno

    2014-04-01

    Acinar dysplasia congenital alveolar dysplasia and alveolar capillary dysplasia with misalignment of pulmonary veins belong to the diffuse developmental disorders (congenital lung dysplasia), very rare fatal disorders of infancy that occur early in lung development. A case of quickly fatal congenital lung dysplasia in a full-term infant is presented and underlines the necessity to suspect this disease in a newborn suffering from severe and refractory respiratory distress.

  19. A questionnaire survey of radiological diagnosis and management of renal dysplasia in children.

    PubMed

    Montini, Giovanni; Busutti, Marco; Yalcinkaya, Fatos; Woolf, Adrian S; Weber, Stefanie

    2017-06-24

    The condition called renal dysplasia is considered to be a frequent cause of chronic kidney disease in children. Formally, it is defined by histological parameters. In current nephrology practice, however, the appearance of the kidneys on ultrasound scanning is often used as a basis for the diagnosis. The European Society for Pediatric Nephrology Working Group on Congenital Anomalies of the Kidney and Urinary Tract hypothesized that the current diagnostic approach with regard to renal dysplasia was not homogeneous. Accordingly, we here report the results of a survey targeting pediatric nephrologists with 12 questions regarding their perceptions of the ultrasonographic characteristics of renal dysplasia and further tests that they might undertake. Of almost 1200 physicians who successfully received the invitation, 248 from 54 countries completed the survey. There was a notable lack of homogeneity regarding the ultrasonographic diagnosis of renal dysplasia and also of follow-up tests, including genetic testing and further radiology. Based on the responses to this large survey, a picture emerges of nephrologists' current clinical practice with regard to renal dysplasia. The Working Group considers that these results serve as an important sounding board which can provide the basis for more definitive recommendations regarding the challenges to clinical diagnosis and diagnostic follow-up of this important condition.

  20. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

    PubMed

    Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

    2013-12-01

    Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.

  1. Diagnosis of congenital hip dysplasia in the newborn.

    PubMed

    Finne, Per Haavwardsholm; Dalen, Ingvild; Ikonomou, Nicolaos; Ulimoen, Geir; Hansen, Thor Willy Ruud

    2008-06-01

    Screening of newborn infants for congenital hip dysplasia may be done by clinical examination, ultrasound, or radiography--or a combination of these. Studies that have used clinical examination followed by ultrasound imaging for infants with certain risk factors have shown excellent results, but they were performed by very experienced practitioners. We wanted to find out whether the results of such screening would be equally good with less optimal staffing. Thus, we evaluated the real-life performance of a screening program for detection of congenital hip dysplasia in newborn infants. We performed a retrospective chart review of all infants (n = 1,983) referred for evaluation for suspected congenital hip dysplasia from one single obstetric hospital, where 19,820 infants had been screened from 1992 through 2001. Infants were referred either because of a positive finding during the Ortolani and Barlow examinations or because of the presence of risk factors. The reasons for referral of the 1,983 infants (10% of those examined) were: positive clinical signs in 255 (1.3% of all examined) and risk factors in 1,547 (7.8%), and a combination of both in 114 (0.6%). 67 other infants (0.3%) who had passed the initial pediatric screening were later referred from the local health centers. Finally, 23 of the 1,983 infants were subsequently referred again by their health center for renewed orthopedic evaluation. Of the infants who were treated (298/1,983 = 15% of those referred), those with a pathological examination result were represented proportionately more than infants who were referred because of risk factors (0.8% as opposed to 0.5%). Delayed diagnoses occurred in 1.7/1,000 infants. The performance of a screening protocol for congenital hip dysplasia in a real-life setting involving several physicians both on the pediatric and orthopedic side may not live up to expectations based on the use of such a protocol in an optimized setting. This type of analysis of screening data

  2. Antenatal diagnosis of congenital renal malformations using ultrasound.

    PubMed

    Sanghvi, K P; Merchant, R H; Gondhalekar, A; Lulla, C P; Mehta, A A; Mehta, K P

    1998-08-01

    Our objectives were to determine the accuracy of antenatal sonography for the detection of congenital renal malformations and to characterize the type of malformations, seen in a 3-year prospective study at a university-affiliated maternity hospital. Participants were 31,217 pregnant women, during the study period, and subjects were 65 fetuses in whom renal malformations were detected on antenatal ultrasound. Pelvic ultrasound scans were performed at least once between 20 and 37 weeks' gestation on all pregnant women attending the antenatal clinic of the hospital for the detection of renal malformations. Fetal urinary sampling, diversion procedures, or termination of pregnancy were carried out as required in those detected to have renal anomalies. Postnatal diagnosis was confirmed by sonography or autopsy. Diagnostic procedures and renal surgery were performed postnatally if indicated. Sixty-five fetuses (0.2 per cent) were diagnosed to have congenital renal malformation antenatally at a mean gestational age of 28.4 weeks. A dilated urinary system was seen in 39, cystic renal disease in 15, agenesis/hypoplasia in six, combined lesions in four, and a horseshoe kidney in one. Oligohydramnios was noted in 20 (31 per cent) pregnancies. Multiple congenital malformations associated with renal anomalies were detected in 12 pregnancies. Termination was carried out at 20 weeks in two pregnancies for lethal malformations; fetal urinary sampling was done in two fetuses with obstructed uropathy, and a vesicoamniotic shunt inserted in one. Postnatal ultrasound confirmed a dilated urinary system in 32, cystic renal dysplasia in 15, renal aplasia/hypoplasia in five, combined lesions in six, and a horseshoe and an ectopic kidney in one each. Five infants were found to be normal. There were seven stillbirths and seven neonatal deaths. Radionuclide scans showed obstruction in nine, decreased renal function in six, and absent renal functions in 10 infants. Micturating

  3. Congenital osteofibrous dysplasia of the tibia, associated with pseudoarthrosis of the ipsilateral fibula.

    PubMed

    Zamzam, Mohammed M

    2008-10-01

    We describe an otherwise normal male neonate who presented shortly after birth with rare congenital osteofibrous dysplasia of the right tibia associated with pseudoarthrosis of the ipsilateral fibula. The lesion was curetted, and the defect was packed with a fibular bone graft from the other leg. Histopathological examination was typical for osteofibrous dysplasia. The ipsilateral fibular pseudoarthrosis was observed with no active intervention. Seven years follow-up showed good functional recovery without recurrence of the lesion. The case is a new presentation of congenital osteofibrous dysplasia, and is presented to draw attention to this rare condition that must be considered in the differential diagnosis of congenital lesions of the tibia.

  4. Congenital cerebellar dysplasia in White Leghorn chickens (Gallus gallus domesticus).

    PubMed

    Nakamura, Sayuri; Ochiai, Kenji; Yabushita, Hiroki; Abe, Asumi

    2014-01-01

    Congenital cerebellar anomalies have been rarely reported in birds. We examined cerebellums with disorganized folia from seven specific-pathogen-free White Leghorn chickens (Gallus gallus domesticus). Islands of heterotopic cortex were distributed from the deeper cortices to the medulla in the cerebellum. The characteristic lesions were composed of randomly admixed components of the cerebellar cortex, including Purkinje cells, a molecular layer and granular cells. Immunofluorescent analysis revealed Purkinje cells with haphazardly extended dendrites and a lack of Bergmann's glial fibres in the foci. Chicken parvovirus, Aino virus and avian retrovirus were not detected in the affected birds by polymerase chain reaction. This is the first report of cerebellar dysplasia in chickens possibly caused by a genetic abnormality.

  5. [Renal dysplasia: clinico-pathologic review].

    PubMed

    Cunha, A S; de Sousa, J F; Garcia, C

    1992-05-01

    Histology records from 63 nephrectomies were reviewed; 22 patients had unilateral totally dysplastic kidneys and 5 had polar or segmental dysplasia. A clinicopathological study of these cases was undertaken. In the first group, there was a slight male preponderance and 75% of the patients presented were under two years of age. Urinary tract infection was the most common complaint. 4 patients were diagnosed in utero by ultrasound and 5 infants presented an abdominal mass. Hypertension was documented in a newborn baby. Ipsilateral lower urinary tract anomalies were found in 12 patients and those of the contralateral kidney in 2 children. There were 3 cases of extrarenal anomalies. Histological examination revealed 13 cases of multicystic dysplasia and 9 of solid dysplasia. Metaplastic cartilage was found in 1 case. In the group of segmental dysplasia, age ranging from 27 weeks' gestation to 8 years, at the time of the diagnosis. They all had duplex kidneys and 4 had ureterocele. Histological study in these cases was similar to the one found in the previous series, although superimposed inflammatory changes were more pronounced. Some of the theories regarding the pathogenesis of this disorder are reviewed and the importance of its diagnosis is emphasised.

  6. Unfused renal ectopia: a rare form of congenital renal anomaly.

    PubMed

    Nursal, Gül Nihal; Büyükdereli, Gülgün

    2005-09-01

    Unfused crossed renal ectopia observed 1 in 75,000 autopsies is a rare congenital anomaly. Typically one kidney is located in the proximity of the other kidney, and the ureter of the anatomically anomalous kidney crosses the midline to insert to the bladder in its normal anatomic position. Although renal function is usually not affected, the condition is generally accompanied by other congenital anomalies. In this case report, static and dynamic scintigraphic images of two patients with unfused crossed renal ectopia are presented. Besides properties of imaging modalities, clinical features are discussed in light of the available literature.

  7. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

    PubMed Central

    Lukacs, Viktor; Mathur, Jayanti; Mao, Rong; Bayrak-Toydemir, Pinar; Procter, Melinda; Cahalan, Stuart M.; Kim, Helen J.; Bandell, Michael; Longo, Nicola; Day, Ronald W.; Stevenson, David A.; Patapoutian, Ardem; Krock, Bryan L.

    2015-01-01

    Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema. PMID:26387913

  8. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.

    PubMed

    Lukacs, Viktor; Mathur, Jayanti; Mao, Rong; Bayrak-Toydemir, Pinar; Procter, Melinda; Cahalan, Stuart M; Kim, Helen J; Bandell, Michael; Longo, Nicola; Day, Ronald W; Stevenson, David A; Patapoutian, Ardem; Krock, Bryan L

    2015-09-21

    Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema.

  9. Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities.

    PubMed

    Bellamkonda-Athmaram, V; Sulman, C G; Basel, D G; Southern, J; Konduri, G G; Basir, M A

    2014-04-01

    Alveolar capillary dysplasia is a rare and fatal disease of newborn infants. Here we describe a patient with alveolar capillary dysplasia, multiple congenital anomalies, a novel genetic mutation and previously undocumented airway findings on bronchoscopy. Knowledge of these associations may help diagnose this rare disorder in neonates with hypoxemic respiratory failure.

  10. Surgically intractable epilepsy associated with focal cortical dysplasia and congenital cutaneous hemangiomas.

    PubMed

    Brzezinski, Anna; Cruz, Vincent B; Prayson, Richard A

    2014-11-01

    We describe a 6-month-old girl with medically intractable seizures, multiple congenital hemangiomas, and developmental delay. The patient underwent two surgical resections. Pathological findings at both the first and second resections were consistent with focal cortical dysplasia. The literature was reviewed on focal cortical dysplasia associated with cutaneous hemangiomas. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. [Renal artery stenosis : atheromatous disease and fibromuscular dysplasia].

    PubMed

    Halimi, Jean-Michel

    2009-04-01

    Renal artery stenosis may be due to atheromatous disease or renal fibromuscular dysplasia (FMD). Management of both diseases requires treatment of hypertension usually observed in such patients; however, clinical presentation, mechanism and treatment of these 2 diseases are usually different. Renal FMD is now considered as a systemic disease, the cause of which may be genetic (although the exact cause is still elusive). Renal arteries are the most frequent localizations of FMD, but extra renal arteries may also be involved (usually carotid arteries). Risk factors of hypertension-induced renal FMD include estrogen treatment and smoking. Renal FMD are mostly found in young women and in children who present with recent severe and/or refractory symptomatic hypertension. Diagnosis is usually easy (Doppler, CT-scan), and treatment of renal FMD is angioplasty in most cases. Atheromatous renal artery stenosis is usually found in patients with other atheromatous disease (peripheral artery disease, carotid, coronary artery disease...). Clinical presentation include severe or refractory hypertension, recurrent flash pulmonary edema in a patient with hypertension, progressive renal dysfunction spontaneously or after medical treatment with converting-enzyme inhibition or angiotensin II blockade, hypertension in a patient (usually smoker or ex-smoker) with diffuse atheromatous vascular disease. Management of atheromatous renal artery disease is medical treatment in all patients (aggressive treatment of cardiovascular risk factors, control of arterial pressure); revascularization is required in some patients only since it rarely cures hypertension: the goal of revascularization is mostly renal function protection, which may be observed in selected patients. Revascularization must be decided by physicians or teams involved in the care of such patients. Patients with atheromatous renal artery disease are at very high renal and cardiovascular risk : aggressive management of

  12. Renal dysplasia with single system ectopic ureter: Diagnosis using magnetic resonance urography and management with laparoscopic nephroureterectomy in pediatric age

    PubMed Central

    Joshi, Milind; Parelkar, Sandesh; Shah, Heemanshi

    2009-01-01

    Single system ureteral ectopia and associated congenital dysplastic kidney is surgically curable etiology of incontinence with other wise normal pattern of voiding in female child. We share our experience of eight cases in last one year and its management with laparoscopic nephroureterectomy at a tertiary care hospital in India which is one of the largest series in such a short duration of this rare anomaly. Materials and Methods: Patients presented with clinical features of continence with otherwise normal pattern of voiding were clinically examined and investigated by ultrasound (USG), nuclear renal scan, magnetic resonance urography (MRU). Laparoscopic nephroureterectomy was done in all the eight cases and renal dysplasia was confirmed on histological examination. Results: All the patients were females in the age group of five months to five years. USG detected the renal dysplasia in three out of eight cases; however, it could not detect the course of the ectopic ureter in any of the cases. MRU picked up the dysplastic moieties and their location as well as functional status and also depicted the course of the ectopic ureter opening into the vaginal wall in all the eight cases. Laparoscopic nephroureterectomy was done in all the cases and patients were cured off their symptoms. Conclusion: Single system ectopic ureter associated with congenital renal dysplasia is exceedingly rare. MRU is definitely the better investigation for the diagnosis of this condition as compared to the conventional radiological investigations. Laparoscopic nephroureterectomy is a very good procedure for the management of these cases. PMID:19955670

  13. Giant congenital melanocytic nevus with developmental dysplasia of bilateral hip: a rare association.

    PubMed

    Imchen, Sutsungkokla; Ghosh, Sangita; Dayal, Surabhi; Marwah, Nisha; Jindal, Nidhi; Sangal, Shikha

    2013-11-01

    Giant congenital melanocytic nevi are rare congenital disfiguring benign neoplasms with a risk of transformation to malignant melanoma. They often present with various extra-cutaneous features. Here, we describe a case of giant melanocytic nevus with developmental dysplasia of bilateral hip, a novel association.

  14. Evaluation of lymphatic dysplasia in patients with congenital pleural effusion and ascites using indocyanine green lymphography.

    PubMed

    Shibasaki, Jun; Hara, Hisako; Mihara, Makoto; Adachi, Shinya; Uchida, Yasushi; Itani, Yasufumi

    2014-05-01

    To investigate the use of indocyanine green (ICG) lymphography in the diagnosis and assessment of the severity of lymphatic dysfunction in infants and neonates with congenital lymphatic pleural effusion and ascites. We performed ICG lymphography on 10 neonates and infants with congenital lymphatic pleural effusion and ascites. After the subcutaneous injection of ICG, circumferential fluorescent images of lymphatic drainage channels in the extremities and trunk were identified using an infrared camera system. The lymphographic findings were classifiable into 2 patterns-those showing a linear lymphatic pattern, suggesting normal lymphatic flow, and those showing lymphatic channels with retrograde lymphatic flow (dermal backflow pattern), suggesting an abnormal lymphatic flow. We analyzed the severity of the ICG lymphography findings and the clinical outcomes. Based on the ICG lymphography, the severity of lymphatic dysplasia were classified into 4 categories: mild dysplasia, moderate dysplasia, severe dysplasia, and lymphatic hypoplasia. All cases diagnosed with mild (n = 3) or moderate dysplasia (n = 2) survived, and 2 of the 4 cases diagnosed with severe dysplasia died. The duration of endotracheal intubation ranged from 1 to 17 days (median, 7) in the patients with mild or moderate dysplasia and from 25 to 110 days (median, 77) in those with severe dysplasia. The ICG lymphographic findings were consistent with the clinical conditions. This imaging technique may be important to the future clinical management of lymphatic dysplasia in neonates and infants. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula.

    PubMed

    Teo, Harvey E L; Peh, Wilfred C G; Akhilesh, M; Tan, S B; Ishida, T

    2007-06-01

    The association between congenital pseudoarthrosis and osteofibrous dysplasia of the tibia and fibula is a rare entity that has been recently recognized. We report a male newborn who was found to have swelling and deformity of the left lower leg. Radiographs and magnetic resonance imaging showed an extensive destructive lesion of the tibial shaft, with dysplastic congenital pseudoarthrosis of the lower fibula. Histopathological examination confirmed the diagnosis of congenital pseudoarthrosis of the tibia and fibula with underlying osteofibrous dysplasia involving both bones. Immunohistochemical stains showed cytokeratin positivity.

  16. Postnatal management of congenital bilateral renal hypodysplasia.

    PubMed

    La Scola, Claudio; Hewitt, Ian; Pasini, Andrea; Pugliese, Fabrizio; Montini, Giovanni

    2010-10-01

    Renal hypodysplasia (RHD) is a congenital disorder, characterized by an abnormally developed kidney. Mutations in genes such as PAX2, HNF1-beta, TCF2, EYA1, that encode factors critical in early renal development, are being found. RHD is the leading cause of chronic renal failure in childhood, with or without associated urologic abnormalities such as vesicoureteric reflux and urinary tract obstruction. Antenatal detection has improved understanding of this disorder, resulting in enhanced outcomes through earlier intervention, including peritoneal dialysis. Management requires a multidisciplinary team approach that commences prior to the birth of the child.

  17. Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report.

    PubMed

    Nakaya, Takeo; Hyuga, Taiju; Tanaka, Yukichi; Kawai, Shina; Nakai, Hideo; Niki, Toshiro; Tanaka, Akira

    2017-04-01

    Renal dysplasia is the most important cause of end-stage renal disease in children. The histopathological characteristic of dysplasia is primitive tubules with fibromuscular disorganization. Renal dysplasia often includes metaplastic cartilage. Metaplastic cartilage in renal dysplasia has been explained as occurring secondary to vesicoureteral reflux (VUR). Additionally, renal dysplasia is observed in renal dysplasia-associated syndromes, which are combinations of multiple developmental malformations and include VACTERL association. We observed the following multiple developmental malformations in a 108-day-old male infant during a nephrectomy: a nonfunctioning right kidney with VUR, hemidiaphragmatic eventration, a ventricular septal defect (VSD) with tetralogy of Fallot in the heart, cryptorchidism, and hyperdactylia. These developmental anomalies satisfied the diagnostic criteria for VACTERL association. A surgical specimen of the right nonfunctioning kidney revealed prominent cartilaginous metaplasia in the renal dysplasia with VUR. The densities of the ectopic cartilaginous lesions in this nonfunctioning kidney were extraordinarily high compared with other renal dysplasia cases. Giemsa banding of his genome produced normal results. The patient has not undergone further detailed genomic investigation. This case might be a novel type of VACTERL association, that is, renal dysplasia combined with prominent cartilaginous metaplasia, tetralogy of Fallot and VSD of the heart, hemidiaphragmatic eventration, and hyperdactylia.

  18. FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.

    PubMed

    Laux, Daniela; Malan, Valérie; Bajolle, Fanny; Boudjemline, Younes; Amiel, Jeanne; Bonnet, Damien

    2013-10-01

    The objective was to report two new patients with the diagnosis of alveolar capillary dysplasia and congenital heart disease, to describe the associated cardiac defects seen in these cases and in the literature, and to consider recent genetic advances concerning the FOX transcription factor gene cluster in chromosome 16q24.1q24.2. We retrospectively analysed the records of all patients with congenital heart disease and alveolar capillary dysplasia seen in the Pediatric Cardiology Department between 2005 and 2010. We reviewed all literature published in the English language relating to cases of alveolar capillary dysplasia and congenital heart disease. Two infants with alveolar capillary dysplasia and cardiac malformation were identified: one had an atrioventricular septal defect and a de novo balanced reciprocal translocation t(1;16)(q32;q24), the second infant had a ventricular septal defect. Analysis of 31 cases of the literature including these new cases showed a predominant association of alveolar capillary dysplasia with obstructive left heart disease (35%), as well as an atrioventricular septal defect (29%). FOX gene cluster defects were identified in eight of these patients. Genetic background of alveolar capillary dysplasia is discussed in the light of the balanced reciprocal translocation t(1;16)(q32;q24) identified in the first child of this report. Alveolar capillary dysplasia should be suspected in neonates with congenital heart disease and unexpectedly elevated pulmonary vascular resistances, especially in cases of obstructive left heart disease or atrioventricular septal defect. Detecting FOX gene cluster defects should be considered in infants with alveolar capillary dysplasia with or without congenital heart disease.

  19. Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?

    PubMed Central

    Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E.

    2015-01-01

    Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith–Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB. PMID:25871299

  20. Radionuclide imaging of rare congenital renal fusion anomalies.

    PubMed

    Volkan, Bilge; Ceylan, Emel; Kiratli, Pinar Ozgen

    2003-03-01

    Demonstration of a congenital renal anomaly plays an important role in the treatment of patients with renal infection. These patients are prone to infections because of coexisting urinary tract anomalies such as duplicated ureter, ureter opening anomalies, and urinary stasis. Assessment of renal parenchymal damage resulting from acute or chronic renal infection is the primary indication for radionuclide imaging with Tc-99m DMSA. In addition, this technique allows congenital anomalies to be identified. The authors review congenital renal fusion anomalies identified in children through Tc-99m DMSA imaging. They conclude that Tc-99m DMSA imaging can reveal important diagnostic information about various congenital anomalies, including fusion anomalies.

  1. Congenital acinar dysplasia: report of a case and review of literature.

    PubMed

    Langenstroer, Mary; Carlan, S J; Fanaian, Naim; Attia, Suzanna

    2013-05-01

    Objective Describe a case of congenital acinar dysplasia and review the literature. Study Design Retrospective chart review and literature search. Results Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment and derangement of the acinar and alveolar architecture of the lungs, resulting in the complete absence of gas exchanging units. The growth-arrested lung tissue resembles the pseudoglandular phase of 16 weeks' gestation. The etiology is unknown. It is diagnosed by exclusion of all other causes of pulmonary hypoplasia and a summation of clinical, imaging, and histopathologic findings. Conclusion There is no cure and clinical treatment is supportive until death of the infant. We present a case of congenital acinar dysplasia in a male infant who lived 20 days with intensive support.

  2. Congenital Acinar Dysplasia: Report of a Case and Review of Literature

    PubMed Central

    Langenstroer, Mary; Carlan, S.J.; Fanaian, Naim; Attia, Suzanna

    2012-01-01

    Objective Describe a case of congenital acinar dysplasia and review the literature. Study Design Retrospective chart review and literature search. Results Congenital acinar dysplasia is a rare malformation of growth arrest of the lower respiratory tract resulting in critical respiratory insufficiency at birth. It is a form of pulmonary hypoplasia that is characterized by diffuse maldevelopment and derangement of the acinar and alveolar architecture of the lungs, resulting in the complete absence of gas exchanging units. The growth-arrested lung tissue resembles the pseudoglandular phase of 16 weeks' gestation. The etiology is unknown. It is diagnosed by exclusion of all other causes of pulmonary hypoplasia and a summation of clinical, imaging, and histopathologic findings. Conclusion There is no cure and clinical treatment is supportive until death of the infant. We present a case of congenital acinar dysplasia in a male infant who lived 20 days with intensive support. PMID:23943701

  3. Congenital renal anomalies detected in adulthood

    PubMed Central

    Muttarak, M; Sriburi, T

    2012-01-01

    Objective To document the types of congenital renal anomalies detected in adulthood, the clinical presentation and complications of these renal anomalies, and the most useful imaging modality in detecting a renal anomaly. Materials and methods This study was approved by the institutional review board and informed consent was waived. Between January 2007 and January 2011, the clinical data and imaging studies of 28 patients older than 18 years diagnosed with renal anomaly at the authors’ institution were retrospectively reviewed. Renal anomalies in this study included only those with abnormality in position and in form. Results Of these 28 patients, 22 underwent imaging studies and their results constituted the material of this study. Of the 22 patients, 14 had horseshoe kidneys (HSK), four had crossed renal ectopia and four had malrotation. Sixteen patients were men and six were women. The patients ranged in age from 19 to 74 years (mean age 51.1 years). Clinical presentations were abdominal pain (13), fever (13), haematuria (4), palpable mass (2), asymptomatic (2), polyuria (1) dysuria (1), blurred vision (1), and headache with weakness of left extremities (1). Imaging studies included abdominal radiograph (15), intravenous pyelography (IVP) (8), retrograde pyelography (RP) (4), ultrasonography (US) (7), and computed tomography (CT) (9). Associated complications included urinary tract stones (17), urinary tract infection (16), hydronephrosis (12), and tumours (2). Abdominal radiograph suggested renal anomalies in nine out of 15 studies. IVP, RP, US and CT suggested anomalies in all patients who had these studies performed. However, CT was the best imaging modality to evaluate anatomy, function and complications of patients with renal anomalies. Conclusion HSK was the most common renal anomaly, with abdominal pain and fever being the most common presentations. UTI and stones were the most common complications. IVP, RP, US and CT can be used to diagnose renal

  4. Hypocalcemic laryngospasm and tetany in a child with renal dysplasia.

    PubMed

    Murphy, Geoff; Bartle, Sam

    2006-07-01

    Stridor is a common presenting sign of respiratory illness in the pediatric population-especially in the winter. Infrequently, tetany as a chief complaint may be seen with tetanus, seizures, and dystonic reactions to medications. There are few medical conditions that present with both symptoms. This is a case of a patient who presented to our emergency department in early winter with both stridor and tetany. The child was diagnosed with hypocalcemia resulting from a previously undiagnosed renal dysplasia and his symptoms resolved with the administration of IV calcium.

  5. MURCS (Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea

    PubMed Central

    Kumar, Sunil; Sharma, Shruti

    2016-01-01

    The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature. We report a case of young female with primary amenorrhoea. She had well-developed secondary sexual characteristics along with multiple congenital developmental abnormalities such as the absence of uterus, ectopic kidney, cervical vertebral fusion, hemivertebrae, scoliosis, cervical rib, facial asymmetry and growth retardation. Our case highlights the rarity and clinical importance of this syndrome. For the evaluation of primary amenorrhoea in a female with well-developed secondary sexual characteristics, congenital anomalies should be ruled out before hormone and karyotype analyses. PMID:27099773

  6. Renal function in cyanotic congenital heart disease.

    PubMed

    Burlet, A; Drukker, A; Guignard, J P

    1999-01-01

    We performed renal function tests in 18 young patients, 1.8-14.6 years of age, with cyanotic congenital heart disease (CCHD). Glomerular filtration rate was normal (116 +/- 4.5 ml/min/1.73 m2), and renal plasma flow was decreased (410 +/- 25 ml/min/1.73 m2) with a rise in the filtration fraction (29 +/- 1.1%). The suggested pathophysiologic explanation of these findings is that the blood hyperviscosity seen in patients with CCHD causes an overall increase in renal vascular resistance with a rise in intraglomerular blood pressure. Despite a sluggish flow of blood in the glomerular capillary bed, the effective filtration pressure was adjusted to conserve the glomerular filtration rate. In addition to these renal hemodynamic parameters, we also studied renal acidification and tubular sodium and water handling during a forced water diuresis. Our data indicate that children with CCHD have a mild to moderate normal ion gap metabolic acidosis due to a low proximal tubular threshold for bicarbonate. Proximal tubular sodium and water reabsorption under these conditions were somewhat increased, though not significantly, probably due to intrarenal hydrostatic forces, in particular the rise in the oncotic pressure in the postglomerular capillaries in patients with high hematocrit values. The distal tubular functions such as sodium handling and acidification were not affected.

  7. Renal Function and Hematology in Rats with Congenital Renal Hypoplasia.

    PubMed

    Yasuda, Hidenori; Amakasu, Kohei; Tochigi, Yuki; Katayama, Kentaro; Suzuki, Hiroetsu

    2016-02-01

    Renal hypoplasia due to a congenitally reduced number of nephrons progresses to chronic kidney disease and may cause renal anemia, given that the kidneys are a major source of erythropoietin in adults. Hypoplastic kidney (HPK) rats have only about 20% of the normal number of nephrons and develop CKD. This study assessed the renal function and hematologic changes in HPK rats from 70 to 210 d of age. HPK rats demonstrated deterioration of renal excretory function, slightly macrocytic erythropenia at all days examined, age-related increases in splenic hemosiderosis accompanied by a tendency toward increased hemolysis, normal plasma erythropoietin levels associated with increased hepatic and decreased renal erythropoietin production, and maintenance of the response for erythropoietin production to hypoxic conditions, with increased interstitial fibrosis at 140 d of age. These results indicate that increases in splenic hemosiderosis and the membrane fragility of RBC might be associated with erythropenia and that hepatic production of erythropoietin might contribute to maintaining the blood Hgb concentration in HPK rats.

  8. Fibromuscular Dysplasia-Related Renal Artery Stenosis Associated with Aneurysm: Successive Endovascular Therapy

    SciTech Connect

    Serter, Selim Oran, Ismail; Parildar, Mustafa; Memis, Ahmet

    2007-04-15

    Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disease. FMD of the renal arteries is one of the leading causes of curable hypertension. The simultaneous occurrence of FMD and renal artery aneurysm has been described previously. In this case, we present a fibrodysplastic lesion and an aneurysm in a renal artery treated with a percutanous transluminal angioplasty and coil embolization.

  9. β-Catenin Causes Renal Dysplasia via Upregulation of Tgfβ2 and Dkk1

    PubMed Central

    Bridgewater, Darren; Di Giovanni, Valeria; Cain, Jason E.; Cox, Brian; Jakobson, Madis; Sainio, Kirsi

    2011-01-01

    Renal dysplasia, defined by defective ureteric branching morphogenesis and nephrogenesis, is the major cause of renal failure in infants and children. Here, we define a pathogenic role for a β-catenin–activated genetic pathway in murine renal dysplasia. Stabilization of β-catenin in the ureteric cell lineage before the onset of kidney development increased β-catenin levels and caused renal aplasia or severe hypodysplasia. Analysis of gene expression in the dysplastic tissue identified downregulation of genes required for ureteric branching and upregulation of Tgfβ2 and Dkk1. Treatment of wild-type kidney explants with TGFβ2 or DKK1 generated morphogenetic phenotypes strikingly similar to those observed in mutant kidney tissue. Stabilization of β-catenin after the onset of kidney development also caused dysplasia and upregulation of Tgfβ2 and Dkk1 in the epithelium. Together, these results demonstrate that elevation of β-catenin levels during kidney development causes dysplasia. PMID:21436291

  10. Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II.

    PubMed

    Ozcan, Alper; Patiroglu, Turkan; Acer, Hamit; Gumus, Hakan; Senol, Serkan; Karakukcu, Musa; Ozdemir, Mehmet A; Unal, Ekrem

    2016-11-01

    Congenital dyserythropoietic anemia type II belongs to a subtype of bone marrow failure syndrome, which is characterized by monolineage involvement and typical morphologic abnormalities in erythroid precursor cells resulting in different degrees of hyporegenerative anemia. Moreover, reticulocytosis, which is not corresponding to the degree of anemia, with jaundice and splenomegaly are major diagnostic criteria. Causative gene is located at SEC23B. Although stroke among children is rare, it can cause significant morbidity and mortality. Herein we present a 3-year-old male with congenital dyserythropoietic anemia type II who presented with stroke-like symptoms, and was diagnosed with fibromuscular dysplasia.

  11. Congenital tibial dysplasia with lateral bowing and duplication of hallux: case presentations.

    PubMed

    Beck, Jennifer J; Altiok, Haluk

    2013-05-01

    This article reports on two children with congenital unilateral tibial dysplasia with lateral bowing with no associated sagittal plane deformity. In both cases, it is associated with ipsilateral duplication of the hallux. Long-term follow-up of the patients showed spontaneous, almost complete resolution of the bowing without progressing into fracture or pseudoarthrosis. Leg length discrepancy appeared to be the only orthopedic sequela related to this phenomenon.

  12. A clinical comparative study of anatomic parameters before and after total hip replacement on congenital dysplasia

    PubMed Central

    Huang, Ziqiang; Zhou, Yonggang; Chai, Wei; Ji, Weiping; Cui, Guopeng; Ma, Miaoqun; Zhu, Yin

    2016-01-01

    [Purpose] To study preoperative and postoperative hip circumference data of various types of congenital dysplasia of the hip treated with total hip replacement, including the femoral offset, femoral neck length, height, and hip abductor arm parameters. [Subjects and Methods] This study included seventy-eight cases of congenital dysplasia of the hip (I–III type). Furthermore, four parameters were measured, including the preoperative and postoperative femoral offset. Statistical data analysis was performed using the SPSS 13.0 software. [Results] The femoral offset was 33.3 ± 8.4 mm (preoperative) and 39.1 ± 7.1 mm (postoperative). The femoral head height was 59.5 ± 8.7 mm (preoperative) and 68.8 ± 11.0 mm (postoperative). The femoral neck length was 50.8 ± 10.8 mm (preoperative) and 61.5 ± 10.4 mm (postoperative). The hip abductor arm was 54.3 ± 9.6 mm (preoperative) 64.7 ± 10.1 mm (postoperative). The preoperative and postoperative parameters showed statistical differences. Furthermore, no significant differences were evidenced when comparing the postoperative hip parameters with the normal data parameters. [Conclusion] Total hip replacement on congenital dysplasia of the hip could lead to the rebuilt of an almost normal physiological anatomy for each hip case (type I–III). PMID:27512242

  13. A clinical comparative study of anatomic parameters before and after total hip replacement on congenital dysplasia.

    PubMed

    Huang, Ziqiang; Zhou, Yonggang; Chai, Wei; Ji, Weiping; Cui, Guopeng; Ma, Miaoqun; Zhu, Yin

    2016-07-01

    [Purpose] To study preoperative and postoperative hip circumference data of various types of congenital dysplasia of the hip treated with total hip replacement, including the femoral offset, femoral neck length, height, and hip abductor arm parameters. [Subjects and Methods] This study included seventy-eight cases of congenital dysplasia of the hip (I-III type). Furthermore, four parameters were measured, including the preoperative and postoperative femoral offset. Statistical data analysis was performed using the SPSS 13.0 software. [Results] The femoral offset was 33.3 ± 8.4 mm (preoperative) and 39.1 ± 7.1 mm (postoperative). The femoral head height was 59.5 ± 8.7 mm (preoperative) and 68.8 ± 11.0 mm (postoperative). The femoral neck length was 50.8 ± 10.8 mm (preoperative) and 61.5 ± 10.4 mm (postoperative). The hip abductor arm was 54.3 ± 9.6 mm (preoperative) 64.7 ± 10.1 mm (postoperative). The preoperative and postoperative parameters showed statistical differences. Furthermore, no significant differences were evidenced when comparing the postoperative hip parameters with the normal data parameters. [Conclusion] Total hip replacement on congenital dysplasia of the hip could lead to the rebuilt of an almost normal physiological anatomy for each hip case (type I-III).

  14. Matrilysin (MMP-7) Inhibition of BMP-7 Induced Renal Tubular Branching Morphogenesis Suggests a Role in the Pathogenesis of Human Renal Dysplasia

    PubMed Central

    Harju-Baker, Susanna; Rims, Cliff; Sheen, Joong-Hyuk; Liapis, Helen

    2012-01-01

    Congenital renal dysplasia (RD) is a severe form of congenital renal malformation characterized by disruption of normal renal development with cyst formation, reduced or absent nephrons, and impaired renal growth. The authors previously identified that matrilysin (matrix metalloproteinase–7) was overexpressed in a microarray gene expression analysis of human RD compared to normal control kidneys. They now find that active matrilysin gene transcription and protein synthesis occur within dysplastic tubules and epithelial cells lining cysts in human RD by RT-PCR and immunohistochemistry. Similar staining patterns were seen in obstructed kidneys of pouch opossums that show histological features similar to that of human RD. In vitro, matrilysin inhibits formation of branching structures in mIMCD-3 cells stimulated by bone morphogenetic protein–7 (BMP-7) but does not inhibit hepatocyte growth factor–stimulated branching. BMP-7 signaling is essential for normal kidney development, and overexpression of catalytically active matrilysin in human embryonic kidney 293 cells reduces endogenous BMP-7 protein levels and inhibits phosphorylation of BMP-7 SMAD signaling intermediates. These findings suggest that matrilysin expression in RD may be an injury response that disrupts normal nephrogenesis by impairing BMP-7 signaling. PMID:22215634

  15. Surgery Navigation in Treating Congenital Midfacial Dysplasia of Patients With Facial Cleft.

    PubMed

    Li, Dong; Bai, Shanshan; Yu, Zheyuan; Xu, Liang; Yuan, Jie; Xu, Haisong; Wei, Min

    2017-09-01

    To explore a new accurate way for the treatment of congenital midfacial dysplasia in facial cleft patients. Between November 2015 and November 2016, 8 patients with nasal deformity and midfacial dysplasia (Tessier Nos. 3-11 cleft) were collected (median age, years; range = 15-20 years). Expanded frontal flap for nasal reconstruction and image-guided navigation-assisted surgery for modified nasal-maxillary-hard palatine osteotomy to advance the peri-pyriform bone structure were performed in all the patients. After 6 to 12 months of follow-up, the authors analyzed the differences between preoperative planning and postoperative results through computed tomography data. Patients were satisfied with surgery, and computed tomography data showed that there was little difference between preoperative planning and postoperative results with the navigation-assisted surgery. Using expanded frontal flap with navigation-assisted surgery for peri-pyriform advancement, the authors could treat congenital nasal deformity and midfacial dysplasia effectively, accurately, and safely in craniofacial cleft patients.

  16. Partial Renal Embolization for Pediatric Renovascular Hypertension Secondary to Fibromuscular Dysplasia

    SciTech Connect

    Ishijima, Hideyuki; Ishizaka, Hiroshi; Sakurai, Minako; Ito, Kazuto; Endo, Keigo

    1997-09-15

    We report a 7-year-old boy with renovascular hypertension showing multiple stenoses and microaneurysms of the dorsal branch of the left renal artery caused by fibromuscular dysplasia. Hypertension was successfully treated with transcatheter alcohol and gelatin sponge embolization of the dorsal branch and its distribution. The vertebral branch remained intact. No severe complication was encountered. Loss of renal function by renal scintigraphy was minimal. The patient remains asymptomatic at 1 year.

  17. Overexpression of Shox2 leads to congenital dysplasia of the temporomandibular joint in mice.

    PubMed

    Li, Xihai; Liang, Wenna; Ye, Hongzhi; Weng, Xiaping; Liu, Fayuan; Liu, Xianxiang

    2014-07-24

    Our previous study reported that inactivation of Shox2 led to dysplasia and ankylosis of the temporomandibular joint (TMJ), and that replacing Shox2 with human Shox partially rescued the phenotype with a prematurely worn out articular disc. However, the mechanisms of Shox2 activity in TMJ development remain to be elucidated. In this study, we investigated the molecular and cellular basis for the congenital dysplasia of TMJ in Wnt1-Cre; pMes-stop Shox2 mice. We found that condyle and glenoid fossa dysplasia occurs primarily in the second week after the birth. The dysplastic TMJ of Wnt1-Cre; pMes-stop Shox2 mice exhibits a loss of Collagen type I, Collagen type II, Ihh and Gli2. In situ zymography and immunohistochemistry further demonstrate an up-regulation of matrix metalloproteinases (MMPs), MMP9 and MMP13, accompanied by a significantly increased cell apoptosis. In addition, the cell proliferation and expressions of Sox9, Runx2 and Ihh are no different in the embryonic TMJ between the wild type and mutant mice. Our results show that overexpression of Shox2 leads to the loss of extracellular matrix and the increase of cell apoptosis in TMJ dysplasia by up-regulating MMPs and down-regulating the Ihh signaling pathway.

  18. Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease.

    PubMed

    Panigrahy, Ashok; Lee, Vincent; Ceschin, Rafael; Zuccoli, Giulio; Beluk, Nancy; Khalifa, Omar; Votava-Smith, Jodie K; DeBrunner, Mark; Munoz, Ricardo; Domnina, Yuliya; Morell, Victor; Wearden, Peter; Sanchez De Toledo, Joan; Devine, William; Zahid, Maliha; Lo, Cecilia W

    2016-11-01

    To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) STUDY DESIGN: We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound scan and brain magnetic resonance imaging were obtained pre- and/or postoperatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes. Perinatal and perioperative clinical variables were collected. A total of 10 (28.5%) patients with CHD had abnormal CM. Abnormal CM was not associated with brain injury but was correlated with increased extraaxial cerebrospinal fluid volume (P < .001), delayed brain maturation (P < .05), and a spectrum of subtle dysplasia including the hippocampus (P < .0078) and olfactory bulb (P < .034). Abnormal CM was associated with higher composite dysplasia score (P < .001), and both were correlated with elevated preoperative serum lactate (P < .001). Abnormal respiratory CM in infants with CHD is associated with a spectrum of brain dysplasia. These findings suggest that ciliary defects may play a role in brain dysplasia in patients with CHD and have the potential to prognosticate neurodevelopmental risks. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. [Cystic dysplasia of rete testis associated with ipsilateral renal agenesis. Case report].

    PubMed

    Cimador, M; Rosone, G; Castagnetti, M; Libri, M; Bertozzi, M; Lima, M; De Grazia, E

    2003-04-01

    Cystic dysplasia of the rete testis is a rare abnormality often associated with the ipsilateral agenesis of kidney. This malformation is due to a development defect of the mesonephric duct which is the cause of both the dilation of the testicular rete testis and renal agenesis. A case of this rare malformation, showing all the peculiarities described in the medical literature, is presented. A 3 years-4 months boy was examined for an asymptomatic left scrotal mass; thus, he underwent ultrasonography, which showed a multiple tubular and cystic dilatation of left rete testis, associated with the absence of left kidney, afterward confirmed by MAG3-radionuclide scan. Diagnosis was also validated by testicular biopsy. No surgery was required. The child is nowadays under observation and at 2-years follow-up he doesn't show any symptom. According to many authors, a conservative treatment of this benign congenital abnormality is suggested as well as serial ultrasonography to monitor the growth of the testicular mass, which in a longest follow-up, could require surgery. Malignant transformation nor infertility have never been described.

  20. Congenital hypothyroidism and concurrent renal insufficiency in a kitten.

    PubMed

    Lim, Chee Kin; Rosa, Chantal T; de Witt, Yolanda; Schoeman, Johan P

    2014-11-14

    A 3-month-old male domestic short-hair kitten was presented with chronic constipation and disproportionate dwarfism. Radiographs of the long bones and spine revealed delayed epiphyseal ossification and epiphyseal dysgenesis. Diagnosis of congenital primary hypothyroidism was confirmed by low serum total thyroxine and high thyroid stimulating hormone concentrations. Appropriate supplementation of levothyroxine was instituted. The kitten subsequently developed mild renal azotaemia and renal proteinuria, possibly as a consequence of treatment or an unmasked congenital renal developmental abnormality. Early recognition, diagnosis and treatment are vital as alleviation of clinical signs may depend on the cat's age at the time of diagnosis.

  1. A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.

    PubMed

    Pacheco-Cuéllar, Guillermo; Gauthier, Julie; Désilets, Valérie; Lachance, Christian; Lemire-Girard, Marlène; Rypens, Françoise; Le Deist, Françoise; Decaluwe, Hélène; Duval, Michel; Bouron-Dal Soglio, Dorothée; Kokta, Victor; Haddad, Élie; Campeau, Philippe M

    2017-09-01

    Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein that converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia. Severe respiratory compromise secondary to lung hypoplasia and pulmonary hypertension, and intestinal obstruction led to their demise. We thus report the most severe phenotype described so far associated with PGM3 mutations. This CDG should be considered in the presence of skeletal dysplasia associated with severe immunodeficiency. © 2017 American Society for Bone and Mineral Research. © 2017 American Society for Bone and Mineral Research.

  2. [Real-time sonography of the infant hip joint in the early diagnosis of congenital hip dysplasia].

    PubMed

    Casser, H R; Forst, R

    1985-01-01

    The ultrasonic examination of infant hip joint means a great advantage in early diagnosis of congenital hip dysplasia. The sonographic type classification by Graf enables the experienced examiner to make up a differentiated diagnostic-therapeutic concept as early as possible. Therapeutic omissions just as well as exaggerated therapeutic measures can be avoided. Consequently the prognosis of hip joint dysplasia is considerably improved by ultrasonic examination of new-born hip joints.

  3. New Lethal Skeletal Dysplasia with Dandy-Walker Malformation, Congenital Heart Defects, Abnormal Thumbs, Hypoplastic Genitalia, and Distinctive Facies

    PubMed Central

    Stevens, Cathy A.; Lachman, Ralph S.

    2011-01-01

    We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, and distinctive facial features. These sibs appear to have a previously undescribed skeletal dysplasia, which is most likely inherited in an autosomal recessive fashion. PMID:20602491

  4. Genetic link between renal birth defects and congenital heart disease

    PubMed Central

    San Agustin, Jovenal T.; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A.; Liu, Xiaoqin; Lo, Cecilia W.; Pazour, Gregory J.

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  5. Genetic link between renal birth defects and congenital heart disease.

    PubMed

    San Agustin, Jovenal T; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A; Liu, Xiaoqin; Lo, Cecilia W; Pazour, Gregory J

    2016-03-22

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD.

  6. Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.

    PubMed

    Schrander-Stumpel, C; de Die-Smulders, C; Fryns, J P; da Costa, J; Bouckaert, P

    1990-09-01

    We report on 2 sibs, a male and a female, who died shortly after birth from respiratory failure. They combined growth retardation with a Potter-like face, complete phocomelia of the upper limbs, rib anomalies (mainly severe hypoplasia of the 6 upper ribs), renal dysplasia, and external genital abnormalities. We hypothesize that these cases represent evidence for the existence of the "new syndrome" described by Ulbright et al. (Am J Med Genet 17:667-668, 1984). This syndrome appears lethal because of the severe renal dysplasia that causes oligohydramnios and pulmonary hypoplasia. Its mode of inheritance seems to be autosomal recessive.

  7. Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

    PubMed Central

    Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

    2013-01-01

    Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

  8. [Unilateral congenital absence of the carpal scaphoid associated with dysplasia of the capitate. Presentation of a case].

    PubMed

    Gómez Fernández, J M; Méndez López, J M; Caracuel Redondo, F

    2012-01-01

    We report on a case of aplasia or unilateral congenital absence of the carpal scaphoid associated with dysplasia of the capitate. Congenital absence of the carpal scaphoid is a rare but well-documented condition. As far as we know, the present case is the seventh one reported in the medical literature. Imaging studies (X-ray and MRI) confirmed the absence of the carpal scaphoid associated with a dysplasia of the capitate and malformation of the radial styloid process. Congenital absence of the scaphoid when other congenital abnormalities (such as hypoplasia or aplasia of either forearm bones or thenar eminence, malformations of the skeletal elements of the thumb, absence of sesamoid bones or abnormal development of the forearm bones) do not exist is probably the main feature of the present case report. Copyright © 2011 SECOT. Published by Elsevier Espana. All rights reserved.

  9. Extracorporeal membrane oxygenation in the neonate with congenital renal disease and pulmonary hypoplasia.

    PubMed

    Caesar, R E; Packer, M G; Kaplan, G W; Dudell, G G; Guerrant, A L; Griswold, W R; Lemire, J M; Mendoza, S A; Reznik, V M

    1995-11-01

    Extracorporeal membrane oxygenation (ECMO) is an effective treatment modality for the newborn with refractory hypoxemia. Oligohydramnios can be associated with congenital renal disease (CRD) and can result in respiratory insufficiency from pulmonary hypoplasia, delayed lung maturation, and persistent pulmonary hypertension of the newborn. In this retrospective study, the authors reviewed the outcome of four children with CRD who required ECMO in the neonatal period. Between October 1987 and December 1995, ECMO was used in four newborns with CRD and pulmonary hypoplasia unresponsive to maximal medical management. The causes of CRD were urinary obstruction (2), renal dysplasia (1), and vesicoureteral reflux (1). Neonatal survivors of ECMO with CRD had regular follow-up with a nephrologist, urologist, and pediatrician. Developmental history, assessment of renal function, and a nutritional evaluation were recorded on each visit. The follow-up period ranged from 6 months to 5 years. All patients with CRD were successfully weaned from ECMO. One child died, at 1 month of age, because of renal failure. The estimated glomerular filtration rates in the three survivors were 20, 24, and 60 mL/min/1.73 m2. Growth and development have been delayed in two patients. Based on the author's experience, ECMO may improve the survival of neonates with pulmonary hypoplasia and CRD. Factors associated with successful long-term outcome include (1) renal disease amenable to surgical correction, (2) aggressive nutritional support, and (3) a reliable social support system.

  10. Renal Artery Stenosis in a Young Female without Fibromuscular Dysplasia with Literature Review

    PubMed Central

    Peralta, Paloma; Cholankeril, Matthew; Goldberg, Daniel; Koneru, Jayanth; Shamoon, Fayez

    2016-01-01

    Renal artery stenosis (RAS) is rare in young patients without fibromuscular dysplasia (FMD). RAS is primarily classified as having two major etiologies, namely, atherosclerosis and FMD, with 90% and 10%, respectively. We report a case of a female in her mid 20s who developed hypertension due to RAS with no evidence of FMD or underlying renal dysfunction and underwent successful angioplasty and stenting. PMID:27398034

  11. β-catenin causes renal dysplasia via upregulation of Tgfβ2 and Dkk1.

    PubMed

    Bridgewater, Darren; Di Giovanni, Valeria; Cain, Jason E; Cox, Brian; Jakobson, Madis; Sainio, Kirsi; Rosenblum, Norman D

    2011-04-01

    Renal dysplasia, defined by defective ureteric branching morphogenesis and nephrogenesis, is the major cause of renal failure in infants and children. Here, we define a pathogenic role for a β-catenin-activated genetic pathway in murine renal dysplasia. Stabilization of β-catenin in the ureteric cell lineage before the onset of kidney development increased β-catenin levels and caused renal aplasia or severe hypodysplasia. Analysis of gene expression in the dysplastic tissue identified downregulation of genes required for ureteric branching and upregulation of Tgfβ2 and Dkk1. Treatment of wild-type kidney explants with TGFβ2 or DKK1 generated morphogenetic phenotypes strikingly similar to those observed in mutant kidney tissue. Stabilization of β-catenin after the onset of kidney development also caused dysplasia and upregulation of Tgfβ2 and Dkk1 in the epithelium. Together, these results demonstrate that elevation of β-catenin levels during kidney development causes dysplasia. Copyright © 2011 by the American Society of Nephrology

  12. Congenital Renal Fusion and Ectopia in the Trauma Patient

    PubMed Central

    Ditchek, Jordan J.; Kiffin, Chauniqua; Carrillo, Eddy H.

    2016-01-01

    We present two separate cases of young male patients with congenital kidney anomalies (horseshoe and crossed fused renal ectopia) identified following blunt abdominal trauma. Despite being rare, ectopic and fusion anomalies of the kidneys are occasionally noted in a trauma patient during imaging or upon exploration of the abdomen. Incidental renal findings may influence the management of traumatic injuries to preserve and protect the patient's renal function. Renal anomalies may be asymptomatic or present with hematuria, flank or abdominal pain, hypotension, or shock, even following minor blunt trauma or low velocity impact. It is important for the trauma clinician to recognize that this group of congenital anomalies may contribute to unusual symptoms such as gross hematuria after minor trauma, are readily identifiable during CT imaging, and may affect operative management. These patients should be informed of their anatomical findings and encouraged to return for long-term follow-up. PMID:27895945

  13. Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study.

    PubMed

    Paton, R W; Choudry, Q A; Jugdey, R; Hughes, S

    2014-11-01

    There is controversy whether congenital foot abnormalities are true risk factors for pathological dysplasia of the hip. Previous United Kingdom screening guidelines considered congenital talipes equinovarus (CTEV) to be a risk factor for hip dysplasia, but present guidelines do not. We assessed the potential relationship between pathological dysplasia of the hip and fixed idiopathic CTEV. We present a single-centre 21-year prospective longitudinal observational study. All fixed idiopathic CTEV cases were classified (Harrold and Walker Types 1 to 3) and the hips clinically and sonographically assessed. Sonographic Graf Type III, IV and radiological irreducible hip dislocation were considered to be pathological hip dysplasia. Over 21 years there were 139 children with 199 cases of fixed idiopathic CTEV feet. Sonographically, there were 259 normal hips, 18 Graf Type II hips, 1 Graf Type III hip and 0 Graf Type IV hip. There were no cases of radiological or sonographic irreducible hip dislocation. Fixed idiopathic CTEV should not be considered as a significant risk factor for pathological hip dysplasia. This conclusion is in keeping with the current newborn and infant physical examination guidelines in which the only risk factors routinely screened are family history and breech presentation. Our findings suggest CTEV should not be considered a significant risk factor in pathological dysplasia of the hip. ©2014 The British Editorial Society of Bone & Joint Surgery.

  14. Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies.

    PubMed

    Elmann, Solly; Hanson, Sarah A; Bunce, Christopher N; Shinder, Roman

    2015-01-01

    A 9-year-old girl with a medical history significant for ectrodactyly ectodermal dysplasia clefting (EEC) syndrome was referred for evaluation of congenital left-sided epiphora. The patient had undergone successful right external dacryocystorhinostomy at age 5 to treat congenital right-sided epiphora. On examination, several ocular anomalies were noted, including absence of the upper eyelid puncta, absence of the left inferior punctum, a left lacrimal fistula opening at the left caruncle, increased left tear lake, bilateral hypoplastic meibomian glands, mild conjunctival injection, and thin eyelid cilia and brow hair. Systemic findings included cleft lip and palate status-post repair, ectrodactyly of the hands and feet, adontia and microdontia, a pointed nose, and lightly pigmented, dry hair and skin. The patient underwent examination under anesthesia and left conjunctivodacryocystorhinostomy with insertion of a Jones tube with resolution of lacrimation postoperatively. To the authors' knowledge, this is the second report detailing management of congenital lacrimal anomalies in EEC syndrome, and the first describing management of punctal atresia with conjunctivodacryocystorhinostomy and Jones tube placement.

  15. [Diagnostic values of bronchoscopy and multi-slice spiral CT for congenital dysplasia of the respiratory system in infants: a comparative study].

    PubMed

    Wang, Xing-Lu; Huang, Ying; Li, Qu-Bei; Dai, Ji-Hong

    2013-09-01

    To investigate and compare the diagnostic values of bronchoscopy and multi-slice spiral computed tomography (CT) for congenital dysplasia of the respiratory system in infants. Analysis was performed on the clinical data, bronchoscopic findings and multi-slice spiral CT findings of 319 infants (≤1 years old) who underwent bronchoscopy and/or multi-slice spiral CT and were diagnosed with congenital dysplasia of the respiratory system. A total of 476 cases of congenital dysplasia of the respiratory system were found in the 319 infants, including primary dysplasia of the respiratory system (392 cases) and compressive dysplasia of the respiratory system (84 cases). Of the 392 cases of primary dysplasia of the respiratory system, 225 (57.4%) were diagnosed by bronchoscopy versus 167 (42.6%) by multi-slice spiral CT. There were significant differences in etiological diagnosis between bronchoscopy and multi-slice spiral CT in infants with congenital dysplasia of the respiratory system (P<0.05). All 76 cases of primary dysplasia of the respiratory system caused by tracheobronchomalacia were diagnosed by bronchoscopy and all 17 cases of primary dysplasia of the respiratory system caused by lung tissue dysplasia were diagnosed by multi-slice spiral CT. Of the 84 cases of compressive dysplasia of the respiratory system, 74 cases were diagnosed by multi-slice spiral CT and only 10 cases were diagnosed by bronchoscopy. Compared with multi-slice spiral CT, bronchoscopy can detect primary dysplasia of the respiratory system more directly. Bronchoscopy is valuable in the confirmed diagnosis of tracheobronchomalacia. Multi-slice spiral CT has a higher diagnostic value for lung tissue dysplasia than bronchoscopy.

  16. Developmental dysplasia of the hip in infants with congenital muscular torticollis.

    PubMed

    Minihane, Keith P; Grayhack, John J; Simmons, Todd D; Seshadri, Roopa; Wysocki, Robert W; Sarwark, John F

    2008-09-01

    Infants with congenital muscular torticollis (CMT) are at increased risk for developmental dysplasia of the hip (DDH), which has led to increased use of diagnostic procedures. Our goal in this study was to establish indications for imaging the hips of infants presenting with CMT. We reviewed the cases of 292 patients with the diagnosis of CMT, 16 of whom were found to have DDH. Each patient with DDH had an abnormal clinical hip examination. Our study results demonstrate that, despite the association of these disorders, an infant presenting with CMT does not require routine hip imaging in light of a normal clinical hip examination. The coexistence rate for CMT and DDH requiring treatment is 4.5%, which is lower than the commonly accepted 20%.

  17. [Congenital mydriasis as an initial sign of septo-optic dysplasia].

    PubMed

    Carrascosa-Romero, M C; Ruiz-Cano, R; Martínez-López, F; Alfaro-Ponce, B; Pérez-Pardo, A

    2013-10-01

    Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis. Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

  18. Classification of Cruciate Ligament Dysplasia and the Severity of Congenital Fibular Deficiency.

    PubMed

    Walker, Janet L; Milbrandt, Todd A; Iwinski, Henry J; Talwalkar, Vishwas R

    2016-12-22

    Dysplasia of the cruciate ligaments has been found in many patients with congenital fibular deficiency. A recent classification system has shown that radiographic tibial spine changes can predict the hypoplasia and aplasia of the cruciate ligaments. We used this radiographic classification to determine the frequency of these abnormalities and how they correlate with the severity of fibular deficiency and lateral femoral condylar hypoplasia. Using a hospital database search for fibular deficiency, 99 patients ≥6 years with unilateral fibular deficiency were identified. Existing radiographs of both knees were available for 75 patients and reviewed for the tibial spine changes and Achterman and Kalamchi classification of the fibular deficiency. Measurements of femoral condyle heights in 74 of 75 patients were recorded before any surgery to the distal femoral physis to assess lateral femoral condylar hypoplasia. Twenty-two patients had hypoplasia of the lateral tibial spine+normal medial spine, 29 had absence of the lateral tibial spine+hypoplastic medial spine, and 11 had absence of both tibial spines. Five tibial spines were normal and 8 were unclassifiable. The severity of the tibial spine dysplasia, particularly absence of the lateral tibial spine, correlated with the severity of the fibular deficiency. (P<0.0001) The mean lateral femoral condylar hypoplasia, measured by involved: uninvolved lateral condyle heights, was 0.85±0.11. Those with some preservation of the lateral tibial spine had less lateral femoral condylar hypoplasia (P=0.0009). This lateral femoral condylar hypoplasia was positively associated with the severity of the fibular absence (P=0.039) and foot ray deficiency (P=0.036). The severity of cruciate ligament dysplasia in fibular deficiency is directly correlated with the severity of fibular absence, lateral femoral condylar hypoplasia, and the absence of foot rays. This suggests that the embryological factors involved have a complex interplay

  19. Screening for hip dysplasia in congenital muscular torticollis: is physical exam enough?

    PubMed

    Joiner, Elizabeth R A; Andras, Lindsay M; Skaggs, David L

    2014-03-01

    An association between congenital muscular torticollis (CMT) and developmental dysplasia of the hip (DDH) has been established in the literature; however, whether the screening of patients with CMT for DDH requires hip imaging remains controversial. The purpose of this study is to determine (1) the coexistence rate of DDH requiring treatment in individuals with CMT and (2) if physical exam alone is sufficient screening. A single-center retrospective chart review was performed among 97 consecutive patients between 1/1/2003 and 9/1/2012 with CMT who had hip imaging performed. 12 % (12/97) of patients with CMT had DDH, all requiring treatment. 75 % (9/12) of the patients with DDH had an abnormal clinical exam. Of the three patients with DDH and a normal clinical exam, two patients were presenting for a second opinion after being treated for DDH prior to evaluation. 90 % (9/10) of patients with DDH at the time of presentation had an abnormal hip exam. All 12 patients with hip dysplasia were referred for DDH or DDH with CMT. There were no patients who were referred for CMT alone that had DDH. In the care of a patient with CMT, it is important that the clinician remains vigilant about screening for DDH. An ultrasound or radiograph of the hips should be strongly considered as part of the evaluation of a child with CMT. IV.

  20. [Congenital dysplasia and dislocation of the hip: proven and new procedures in diagnostics and therapy].

    PubMed

    Multerer, C; Döderlein, L

    2014-08-01

    As developmental dysplasia of the hip (DDH) is the most common congenital muskuloskeletal anomaly, it seems necessary to give an update on the normal growth, pathoanatomy, diagnostic and therapeutic procedures. Which investigations or procedures have withstood the test of time? What are new therapeutic strategies and considerations? What are the problems? Review of the current literature on DDH supplemented by several years experience in the treatment of this condition by the authors. We have still a long way to achieve the goal of agreement on universal standardization of assessment and treatment methods based on age and staging regarding DDH, as in the Ponseti treatment procedure for clubfoot. Our experiences, as well as the literature suggest the use of Graf's nomenclature for classification of DDH in the first year of life. If dynamic ultrasound (US) shows at least a partial relocation of a decentered hip in the first 6 weeks of life, splinting in human position is advocated. The treatment of a Graf type IV hip joint is very difficult and often need surgery. The established surgical procedures in the literature are still up to date. Radiological follow-up of the affected as well as the unaffected side until the end of the growth phase is mandatory due to the risk of residual dysplasia.

  1. [Early clinical and radiological basic detection of congenital hip dysplasia at primary health care units].

    PubMed

    Olivo-Rodríguez, A G; Redón-Tavera, A

    2016-01-01

    The number of cases of late congenital hip dysplasia has increased, together with its sequelae, disability and absence of early diagnosis. The problem is that there is a difference between the sensitivity and the clinical exam, and the physicians knowledge of this topic is poor. We evaluated the quality of the training provided to the primary health care staff on congenital hip dysplasia. A prospective cohort study was undertaken to study 228 physicians for 3 years. A workshop was delivered and the physicians took a pre-workshop and a post-workshop exam. Then pelvic X-rays of infants under 6 months of age were taken and the X-ray references and measurements were assessed. The statistical analysis assesses the change in the pre-workshop and post-workshop grades in both the group that participated in the workshop and the group that did not. The statistical variables used included means, standard deviation, minimum and maximum grades, and the score differences. Students t test was used to prove the statistical significance of the differences, with n-1 degrees of freedom. Thirty-one pathological hips were detected in infants under 6 months of age in the group that took the workshop. The group that received the training shows that the latter may have a positive impact since an improvement in the grades (p 0.0001) was seen after the theoretical and practical course and after the X-ray measurements. A low knowledge level was observed. The training raised the awareness of the health care staff and a progressive increase was seen in the number of infants under 6 months of age who received a timely detection.

  2. Diagnosis of congenital toxoplasmosis in a renal transplant recipient mother.

    PubMed

    Hermann, M; Yéra, H; Villena, I; Cimon, B; Thervet, E; Benachi, A

    2017-08-26

    We report the case of a first trimester toxoplasmosis infection in a renal transplant recipient. Real-time polymerase chain reaction in amniotic fluid at 18 weeks was negative for Toxoplasma gondii but at 26 weeks major fetal hydrocephalus was discovered leading to medical termination of pregnancy. Pathological examination confirmed lesions consistent with congenital toxoplasmosis. The herein case report, as well as data from the French reference centre for congenital Toxoplamosis (1835 cases in the past eight years), suggests that the strategy of management of pregnancy's first trimester Toxoplasmosis infection in patients treated by immunosuppressive therapy needs to be reconsidered. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  3. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

    PubMed

    Stray-Pedersen, Asbjørg; Backe, Paul H; Sorte, Hanne S; Mørkrid, Lars; Chokshi, Niti Y; Erichsen, Hans Christian; Gambin, Tomasz; Elgstøen, Katja B P; Bjørås, Magnar; Wlodarski, Marcin W; Krüger, Marcus; Jhangiani, Shalini N; Muzny, Donna M; Patel, Ankita; Raymond, Kimiyo M; Sasa, Ghadir S; Krance, Robert A; Martinez, Caridad A; Abraham, Shirley M; Speckmann, Carsten; Ehl, Stephan; Hall, Patricia; Forbes, Lisa R; Merckoll, Else; Westvik, Jostein; Nishimura, Gen; Rustad, Cecilie F; Abrahamsen, Tore G; Rønnestad, Arild; Osnes, Liv T; Egeland, Torstein; Rødningen, Olaug K; Beck, Christine R; Boerwinkle, Eric A; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Lausch, Ekkehart; Hanson, I Celine

    2014-07-03

    Human phosphoglucomutase 3 (PGM3) catalyzes the conversion of N-acetyl-glucosamine (GlcNAc)-6-phosphate into GlcNAc-1-phosphate during the synthesis of uridine diphosphate (UDP)-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways. We identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B and T cell lymphopenia, and progression to bone marrow failure. Whole-exome sequencing demonstrated deleterious mutations in PGM3 in all three subjects, delineating their disease to be due to an unsuspected congenital disorder of glycosylation (CDG). Functional studies of the disease-associated PGM3 variants in E. coli cells demonstrated reduced PGM3 activity for all mutants tested. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability. However, these additional features were absent in the third child, showing the clinical variability of the disease. Two children received hematopoietic stem cell transplantation of cord blood and bone marrow from matched related donors; both had successful engraftment and correction of neutropenia and lymphopenia. We define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes.

  4. Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study

    PubMed Central

    Dai, Jin; Shi, Dongquan; Zhu, Pengsheng; Qin, Jianghui; Ni, Haijian; Xu, Yong; Yao, Chen; Zhu, Lunqing; Zhu, Hongtao; Zhao, Baocheng; Wei, Jia; Liu, Baorui; Ikegawa, Shiro; Jiang, Qing; Ding, Yitao

    2008-01-01

    Introduction Congenital dysplasia of the hip is an abnormal seating of the femoral head in the acetabulum, mainly caused by shallow acetabulum and lax joint capsule. Genetic factors play a considerable role in the pathogenesis of congenital dysplasia of the hip. The gene growth differentiate factor 5 (GDF5) has been implicated in skeletal development and joint morphogenesis in humans and mice. A functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility. As a key regulator in morphogenesis of skeletal components and soft tissues in and around the joints, GDF5 may be involved in the aetiology and pathogenesis of congenital dysplasia of the hip. Our objective is to evaluate if the GDF5 SNP is associated with congenital dysplasia of the hip in people of Han Chinese origin. Methods The GDF5 SNP was genotyped in 338 children with congenital dysplasia of the hip and 622 control subjects. Results The SNP was significantly associated with congenital dysplasia of the hip (p = 0.0037; odds ration (OR) = 1.40; 95% confidence interval (CI) = 1.11 to 1.75). A significant difference was detected in female samples when stratified by gender (p = 0.0053; OR = 1.46; 95% CI = 1.21 to 1.91), and in hip dislocation when stratified by severity (p = 0.0078; OR = 1.43; 95% CI = 1.11 to 1.85). Conclusions Our results indicate that GDF5 is important in the aetiology of congenital dysplasia of the hip. To the authors' knowledge this is the first time that a definite association with the congenital dysplasia of the hip susceptibility has been detected. PMID:18947434

  5. Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study.

    PubMed

    Dai, Jin; Shi, Dongquan; Zhu, Pengsheng; Qin, Jianghui; Ni, Haijian; Xu, Yong; Yao, Chen; Zhu, Lunqing; Zhu, Hongtao; Zhao, Baocheng; Wei, Jia; Liu, Baorui; Ikegawa, Shiro; Jiang, Qing; Ding, Yitao

    2008-01-01

    Congenital dysplasia of the hip is an abnormal seating of the femoral head in the acetabulum, mainly caused by shallow acetabulum and lax joint capsule. Genetic factors play a considerable role in the pathogenesis of congenital dysplasia of the hip. The gene growth differentiate factor 5 (GDF5) has been implicated in skeletal development and joint morphogenesis in humans and mice. A functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility. As a key regulator in morphogenesis of skeletal components and soft tissues in and around the joints, GDF5 may be involved in the aetiology and pathogenesis of congenital dysplasia of the hip. Our objective is to evaluate if the GDF5 SNP is associated with congenital dysplasia of the hip in people of Han Chinese origin. The GDF5 SNP was genotyped in 338 children with congenital dysplasia of the hip and 622 control subjects. The SNP was significantly associated with congenital dysplasia of the hip (p = 0.0037; odds ration (OR) = 1.40; 95% confidence interval (CI) = 1.11 to 1.75). A significant difference was detected in female samples when stratified by gender (p = 0.0053; OR = 1.46; 95% CI = 1.21 to 1.91), and in hip dislocation when stratified by severity (p = 0.0078; OR = 1.43; 95% CI = 1.11 to 1.85). Our results indicate that GDF5 is important in the aetiology of congenital dysplasia of the hip. To the authors' knowledge this is the first time that a definite association with the congenital dysplasia of the hip susceptibility has been detected.

  6. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

    PubMed Central

    Yaou, Rabah Ben; Navarro, Claire; Quijano-Roy, Susana; Bertrand, Anne T; Massart, Catherine; De Sandre-Giovannoli, Annachiara; Cadiñanos, Juan; Mamchaoui, Kamel; Butler-Browne, Gillian; Estournet, Brigitte; Richard, Pascale; Barois, Annie; Lévy, Nicolas; Bonne, Gisèle

    2011-01-01

    Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome. Phenotype severity is correlated with the residual enzyme activity of ZMPSTE24 and accumulation of prelamin A. We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia. In this study, we report a 30-year longitudinal clinical survey of a patient harboring a novel severe and complex phenotype, combining an early-onset progeroid syndrome and a congenital myopathy with fiber-type disproportion. A unique homozygous missense ZMPSTE24 mutation (c.281T>C, p.Leu94Pro) was identified and predicted to produce two possible ZMPSTE24 conformations, leading to a partial loss of function. Western blot analysis revealed a major reduction of ZMPSTE24, together with the presence of unprocessed prelamin A and decreased levels of lamin A, in the patient's primary skin fibroblasts. These cells exhibited significant reductions in lifespan associated with major abnormalities of the nuclear shape and structure. This is the first report of MAD presenting with confirmed myopathic abnormalities associated with ZMPSTE24 defects, extending the clinical spectrum of ZMPSTE24 gene mutations. Moreover, our results suggest that defective prelamin A processing affects muscle regeneration and development, thus providing new insights into the disease mechanism of prelamin A-defective associated syndromes in general. PMID:21267004

  7. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

    PubMed

    Ben Yaou, Rabah; Navarro, Claire; Quijano-Roy, Susana; Bertrand, Anne T; Massart, Catherine; De Sandre-Giovannoli, Annachiara; Cadiñanos, Juan; Mamchaoui, Kamel; Butler-Browne, Gillian; Estournet, Brigitte; Richard, Pascale; Barois, Annie; Lévy, Nicolas; Bonne, Gisèle

    2011-06-01

    Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome. Phenotype severity is correlated with the residual enzyme activity of ZMPSTE24 and accumulation of prelamin A. We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia. In this study, we report a 30-year longitudinal clinical survey of a patient harboring a novel severe and complex phenotype, combining an early-onset progeroid syndrome and a congenital myopathy with fiber-type disproportion. A unique homozygous missense ZMPSTE24 mutation (c.281T>C, p.Leu94Pro) was identified and predicted to produce two possible ZMPSTE24 conformations, leading to a partial loss of function. Western blot analysis revealed a major reduction of ZMPSTE24, together with the presence of unprocessed prelamin A and decreased levels of lamin A, in the patient's primary skin fibroblasts. These cells exhibited significant reductions in lifespan associated with major abnormalities of the nuclear shape and structure. This is the first report of MAD presenting with confirmed myopathic abnormalities associated with ZMPSTE24 defects, extending the clinical spectrum of ZMPSTE24 gene mutations. Moreover, our results suggest that defective prelamin A processing affects muscle regeneration and development, thus providing new insights into the disease mechanism of prelamin A-defective associated syndromes in general.

  8. Rupture of the Renal Artery After Cutting Balloon Angioplasty in a Young Woman With Fibromuscular Dysplasia

    SciTech Connect

    Oguzkurt, Levent Tercan, Fahri; Gulcan, Oner; Turkoz, Riza

    2005-04-15

    A 24-year-old woman with uncontrollable high blood pressure for 3 months had significant stenosis of the left renal artery caused by fibromuscular dysplasia (FMD). The lesion was resistant to percutaneous transluminal angioplasty at 18 atm with a semicompliant balloon. Angioplasy with a 6 x 10 mm cutting balloon (CB) caused rupture of the artery. Low-pressure balloon inflation decreased but did not stop the leak. An attempt to place a stent-graft (Jostent; Jomed, Rangendingen, Germany) failed, and a bare, 6-mm balloon-expandable stent (Express SD; Boston Scientific, MN) was deployed to seal the leak, which had decreased considerably after long-duration balloon inflation. The bleeding continued, and the patient underwent emergent surgical revascularization of the renal artery with successful placement of a 6-mm polytetrafluoroethylene bypass graft. CBs should be used very carefully in the treatment of renal artery stenosis, particularly in patients with FMD.

  9. Multivisceral Fibromuscular Dysplasia: An Unusual Case of Renal and Superior Mesenteric Involvement

    PubMed Central

    2010-01-01

    Fibromuscular dysplasia (FMD), a disease process which leads to arterial stenosis and aneurysm formation, has been reported to occur in almost every arterial bed in the body. However, multivisceral FMD is rare, and we report a 43-year-old woman with hypertension who had incidental finding of FMD of both renal arteries and the superior mesenteric artery (SMA). The left renal aneurysms and right renal stenosis were successfully treated by aneurysm resection and aortorenal bypass and percutaneous transluminal angioplasty, respectively. The asymptomatic FMD of the SMA was treated conservatively. The indications for intervention in patients with asymptomatic FMD have not been clarified till date, and we therefore advise a close surveillance program. PMID:23555404

  10. Vertebral and spinal dysplasia: A novel dominantly inherited congenital defect in Holstein cattle.

    PubMed

    Kromik, A; Kusenda, M; Tipold, A; Stein, V M; Rehage, J; Weikard, R; Kühn, C

    2015-06-01

    Monitoring and surveillance strategies are imperative for managing genetic defects in livestock populations in order to avoid detrimental effects on animal welfare and productivity. Recently, a number of previously unknown defects have been described in cattle, fostered by the huge progress in genome analysis and genomic selection. In response to reports about a potentially new defect in Holstein cattle, case-control studies were carried out to confirm a genetic background of the defect and to evaluate its phenotypic relevance. Eighty-five potentially affected offspring of a suspected carrier sire for the defect and 41 matched control calves were subjected to clinical and epidemiological monitoring on 39 farms. Forty-one animals, all offspring of the suspected carrier sire, showed pathognomonic tail malformations providing highly significant evidence for a congenital inherited defect, which was subsequently termed vertebral and spinal dysplasia (VSD). The defect is characterised by vertebral (specifically tail) deformities and neurological dysfunctions with gait abnormalities of the hind limbs. The deformities and neurological dysfunctions varied from very mild (only tail deformities) to severe (paraparesis). Detailed epidemiological monitoring provided no indication of environmental factors affecting VSD. The malformations and dysfunctions associated with VSD, as well as its mode of inheritance and the genotyping of the suspected carrier sire, indicated that VSD is a defect previously not described in cattle. VSD is inherited in a dominant mode, but shows incomplete penetrance of the phenotype, which impedes unequivocal identification of VSD carriers. A direct diagnostic genetic test for VSD is available.

  11. Focal congenital hyperinsulinism in a patient with septo-optic dysplasia.

    PubMed

    Padidela, Raja; Kapoor, Ritika R; Moyo, Yuva; Gilbert, Clare; Flanagan, Sarah E; Ellard, Sian; Hussain, Khalid

    2010-11-01

    An infant diagnosed as having hypopituitarism and on adequate hydrocortisone replacement therapy was referred to a tertiary endocrine unit at 5 weeks of age with persistent hypoglycemia that required a high rate of intravenous glucose infusion (up to 18 mg/kg•min⁻¹) to maintain euglycemia. A controlled hypoglycemia screen was performed to measure levels of plasma glucose, insulin, C-peptide and 3-β-hydroxybutyrate concentrations. The pancreas was analyzed by fluorine-18-L-3,4-dihydroxyphenylalanine ((18)F-DOPA) PET scan. Genetic analyses were performed on the peripheral blood leukocytes, and loss of heterozygosity within the resected focal lesion of the pancreas was investigated by microsatellite analysis. A glucagon stimulation test helped determine pituitary function, and an MRI of the brain and pituitary gland was performed to define the anatomy of the intracranial structures and the pituitary gland. Focal form of congenital hyperinsulinism localized to the head of the pancreas, septo-optic dysplasia and pituitary hormone deficiencies. Resection of the focal lesion from the head of the pancreas and hormonal replacement therapy for hypopituitarism.

  12. Screening for the coexistence of congenital muscular torticollis and developmental dysplasia of hip.

    PubMed

    Kim, Sung Nyun; Shin, Yong Beom; Kim, Wan; Suh, Hwi; Son, Han Kyeong; Cha, Young Sun; Chang, Jae Hyeok; Ko, Hyun-Yoon; Lee, In Sook; Kim, Min Jeong

    2011-08-01

    To investigate the coexistence rate and related factors of developmental dysplasia of the hip (DDH) and congenital muscular torticollis (CMT), and to determine whether ultrasonography (US) gives good value for screening of DDH in CMT. We prospectively examined 121 infants (73 males and 48 females) diagnosed with CMT to determine the incidence of DDH by US. We also assessed the relationship between neck US findings and DDH occurrence, and investigated the clinical features of CMT related to DDH. 18 patients (14.9%) were diagnosed as having DDH by US. However, most DDH was subclinical and spontaneously resolved. Only 2 patients (1.7%) needed to be treated with a harness. The positive predictive value of clinical examinations for DDH was 52.6% and patients treated by harness were all clinically positive. DDH was more common in the left side (13 left, 4 right, 1 both), but 6 out of 18 DDH (33.3%) cases presented on the contralateral side of CMT. Sex difference was not observed. Breech presentation and oligohydramnios were not related to DDH occurrence. Neck US findings did not correlate with DDH occurrence. The coexistence rate of CMT and DDH was concluded to be 14.9%. If only DDH cases that required treatment were included, the coexistence rate of these two disorders would be lowered to 1.7%. All of these patients showed positive findings in clinical examination. Therefore, hip US should not be recommended routinely for patients with CMT.

  13. ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia.

    PubMed

    Mitsioni, Artemis G; Siomou, Ekaterini; Bouba, Ioanna; Petridi, Stavroula; Siamopoulou, Antigoni; Georgiou, Ioannis

    2016-07-01

    Primary nonsyndromic vesicoureteral reflux (VUR) and VUR with renal hypoplasia/dysplasia (VUR-RHD) are common congenital anomalies of the kidney and urinary tract (CAKUT). Sequence variations of the ROBO2 gene were investigated in children with nonsyndromic VUR or VUR-RHD. Single-strand conformation polymorphism (SSCP) electrophoresis or multiple restriction fragment SSCP (MRF-SSCP), followed occasionally by direct sequencing, was used to screen 103 patients and 200 controls for nucleotide changes. Gene polymorphisms and transposable elements were investigated using bioinformatics. Two single-nucleotide polymorphisms were detected: IVS1-53 and IVS5-31. The frequency of A allele of IVS1-53G>A did not differ significantly between patients and controls. IVS1-53 does not affect mRNA splicing according to in silico analysis. IVS5-31A>G substitution was found in one patient, reported here for the first time in VUR. In silico results demonstrated alteration in two serine/arginine-rich (SR) protein-binding sites and two additional acceptor sites. The ROBO2 gene sequence was found to contain 25.9% transposable elements. ROBO2 variants were not found to be associated with nonsyndromic VUR or VUR-RHD, providing further evidence for genetic heterogeneity. The role of transposable elements in ROBO2 gene expression in CAKUT needs further investigation since they are generally considered to be mutagens.

  14. Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis.

    PubMed

    Sarin, Sanjay; Javidan, Ashkan; Boivin, Felix; Alexopoulou, Iakovina; Lukic, Dusan; Svajger, Bruno; Chu, Stephanie; Baradaran-Heravi, Alireza; Boerkoel, Cornelius F; Rosenblum, Norman D; Bridgewater, Darren

    2015-01-01

    Schimke immuno-osseous dysplasia (SIOD) is a pleiotropic disorder caused by mutations in the SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like-1 (SMARCAL1) gene, with multiple clinical features, notably end-stage renal disease. Here we characterize the renal pathology in SIOD patients. Our analysis of SIOD patient renal biopsies demonstrates the tip and collapsing variants of focal segmental glomerulosclerosis (FSGS). Additionally, electron microscopy revealed numerous glomerular abnormalities most notably in the podocyte and Bowman's capsule. To better understand the role of SMARCAL1 in the pathogenesis of FSGS, we defined SMARCAL1 expression in the developing and mature kidney. In the developing fetal kidney, SMARCAL1 is expressed in the ureteric epithelium, stroma, metanephric mesenchyme, and in all stages of the developing nephron, including the maturing glomerulus. In postnatal kidneys, SMARCAL1 expression is localized to epithelial tubules of the nephron, collecting ducts, and glomerulus (podocytes and endothelial cells). Interestingly, not all cells within the same lineage expressed SMARCAL1. In renal biopsies from SIOD patients, TUNEL analysis detected marked increases in DNA fragmentation. Our results highlight the cells that may contribute to the renal pathogenesis in SIOD. Further, we suggest that disruptions in genomic integrity during fetal kidney development contribute to the pathogenesis of FSGS in SIOD patients. © The Author(s) 2014.

  15. Homozygosity mapping of the locus responsible for renal tubular dysplasia of cattle on bovine chromosome 1.

    PubMed

    Ohba, Y; Kitagawa, H; Kitoh, K; Asahina, S; Nishimori, K; Yoneda, K; Kunieda, T; Sasaki, Y

    2000-04-01

    Renal tubular dysplasia is a hereditary disease of Japanese black cattle showing renal failure and growth retardation with an autosomal recessive trait. In the present study, we mapped the locus responsible for the disease (RTD) by linkage analysis with an inbred paternal half-sib pedigree obtained from commercial herds. By analyzing segregation of microsatellite markers in the half-sibs, significant linkage was observed between the RTD locus and markers on bovine Chromosome (Chr) 1 with the highest lod score of 11.4. Homozygosity mapping with the inbred pedigree further defined the localization of the RTD locus in a 4-cM region between microsatellite markers BMS4003 and INRA119. Mapping of the RTD locus on bovine Chr 1 will facilitate cloning and characterization of the gene responsible for this disease.

  16. Bioprosthesis valve replacement in dogs with congenital tricuspid valve dysplasia: technique and outcome.

    PubMed

    Arai, Shiori; Griffiths, Leigh G; Mama, Khursheed; Hackett, Timothy B; Monnet, Eric; Boon, June A; Carter, Leslie; Orton, E Christopher

    2011-06-01

    To describe the surgical technique and report outcome of dogs undergoing bioprosthesis valve replacement for severe tricuspid regurgitation (TR) secondary to congenital tricuspid valve dysplasia (TVD). Twelve client-owned dogs (19-43 kg) with TVD underwent tricuspid valve replacement with a bovine pericardial or porcine aortic bioprosthesis with the aid of cardiopulmonary bypass. Anticoagulation with warfarin was maintained for 3 months after surgery and then discontinued. Ten of 12 (83.3%) dogs survived surgery and were discharged from the hospital. Seven dogs were alive with complete resolution of TR for a median period of 48 months (range 1-66 months) after surgery. Two dogs underwent euthanasia because of bioprosthesis failure due to inflammatory pannus at 10 and 13 months after surgery. Two dogs experienced valve thrombosis that was resolved by tissue plasminogen activator. One dog developed suspected endocarditis after surgery that was resolved with antibiotics. Serious cardiac complications included atrial fibrillation and flutter, right-to-left shunt through an uncorrected patent foramen ovale, complete atrioventricular block, and sudden cardiac arrest. Postoperative atrial fibrillation or flutter did not occur in 7 dogs treated prophylactically with oral amiodarone before surgery. Curative intermediate-term outcomes are possible in dogs undergoing open tricuspid valve replacement with a bioprosthesis. Prosthesis-related complications include inflammatory pannus, thrombosis, and endocarditis. Postoperative atrial fibrillation or flutter can be reduced or prevented by prophylactic preoperative treatment with amiodarone. Several identified complications are avoidable or can be reduced with increased awareness and experience with these techniques. Copyright © 2011 Elsevier B.V. All rights reserved.

  17. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

    PubMed Central

    Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

    2015-01-01

    Ectrodactyly-ectodermal dysplasia and clefting syndrome or “Lobster claw” deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case. PMID:26655010

  18. Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

    PubMed

    Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

    2015-10-01

    Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

  19. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting

    PubMed Central

    Riminucci, Mara; Collins, Michael T.; Fedarko, Neal S.; Cherman, Natasha; Corsi, Alessandro; White, Kenneth E.; Waguespack, Steven; Gupta, Anurag; Hannon, Tamara; Econs, Michael J.; Bianco, Paolo; Gehron Robey, Pamela

    2003-01-01

    FGF-23, a novel member of the FGF family, is the product of the gene mutated in autosomal dominant hypophosphatemic rickets (ADHR). FGF-23 has been proposed as a circulating factor causing renal phosphate wasting not only in ADHR (as a result of inadequate degradation), but also in tumor-induced osteomalacia (as a result of excess synthesis by tumor cells). Renal phosphate wasting occurs in approximately 50% of patients with McCune-Albright syndrome (MAS) and fibrous dysplasia of bone (FD), which result from postzygotic mutations of the GNAS1 gene. We found that FGF-23 is produced by normal and FD osteoprogenitors and bone-forming cells in vivo and in vitro. In situ hybridization analysis of FGF-23 mRNA expression identified “fibrous” cells, osteogenic cells, and cells associated with microvascular walls as specific cellular sources of FGF-23 in FD. Serum levels of FGF-23 were increased in FD/MAS patients compared with normal age-matched controls and significantly higher in FD/MAS patients with renal phosphate wasting compared with those without, and correlated with disease burden bone turnover markers commonly used to assess disease activity. Production of FGF-23 by FD tissue may play an important role in the renal phosphate–wasting syndrome associated with FD/MAS. PMID:12952917

  20. Renal aplastic dysplasia and ipsilateral ectopic ureter obstructing the seminal via: a possible cause of male infertility.

    PubMed

    Carbone, Antonio; Palleschi, Giovanni; Tomiselli, Giulio; Inghilleri, Maurizio; Rago, Rocco; Lenzi, Andrea; Pastore, Antonio Luigi

    2007-07-01

    Few cases of unilateral renal agenesis associated with ipsilateral seminal vesicle ectasia or cyst have been reported. Two cases of unilateral renal aplastic dysplasia and ipsilateral ectopic ureter opening in the ejaculatory ducts associated with infertility secondary to bilateral obstruction of the seminal via are reported. Clinical and physical assessment including transrectal ultrasound and magnetic resonance imaging are proposed as a comprehensive algorithm for the diagnostic evaluation of the pelvic cystic masses.

  1. Septo-optic dysplasia associated with congenital persistent fetal vasculature, retinal detachment, and gastroschisis.

    PubMed

    Jordan, Michael A; Montezuma, Sandra R

    2015-01-01

    The purpose of this study was to report the association of septo-optic dysplasia, persistent fetal vasculature, retinal detachment, and gastroschisis in a preterm neonate. This is a case report. A female preterm neonate was found to have septo-optic dysplasia, with optic nerve hypoplasia, tripartite splitting of the vessels at the optic nerve, an ectopic pituitary gland, and absence of the septum pellucidum associated with persistent fetal vasculature, a retinal detachment, and gastroschisis. Septo-optic dysplasia may also be associated with other ophthalmic findings and other developmental malformations as the authors report in this case. Follow-up should consist of a multidisciplinary approach with radiologic and endocrinology consultation.

  2. Urinary metabolomics of bronchopulmonary dysplasia (BPD): preliminary data at birth suggest it is a congenital disease.

    PubMed

    Fanos, Vassilios; Pintus, Maria Cristina; Lussu, Milena; Atzori, Luigi; Noto, Antonio; Stronati, Mauro; Guimaraes, Hercilia; Marcialis, Maria Antonietta; Rocha, Gustavo; Moretti, Corrado; Papoff, Paola; Lacerenza, Serafina; Puddu, Silvia; Giuffrè, Mario; Serraino, Francesca; Mussap, Michele; Corsello, Giovanni

    2014-10-01

    Bronchopulmonary dysplasia (BPD) or chronic lung disease is one of the principal causes of mortality and morbidity in preterm infants. Early identification of infants at the greater risk of developing BPD may allow a targeted approach for reducing disease severity and complications. The trigger cause of the disease comprehends the impairment of the alveolar development and the increased angiogenesis. Nevertheless, the molecular pathways characterizing the disease are still unclear. Therefore, the use of the metabolomics technique, due to the capability of identifying instantaneous metabolic perturbation, might help to recognize metabolic patterns associated with the condition. The purpose of this study is to compare urinary metabolomics at birth in 36 newborns with a gestational age below 29 weeks and birth weight <1500 g (very low birth weight - VLBW), admitted in Neonatal Intensive Care Unit (NICU) divided into two groups: the first group (18 cases) consisting of newborns who have not yet developed the disease, but who will subsequently develop it and the second group (18 controls) consisting of newborns not affected by BPD. Urine samples were collected within 24-36 h of life and immediately frozen at -80 °C. The (1)H-NMR spectra were analyzed using a partial least squares discriminant analysis (PLS-DA) model coupled with orthogonal Signal Correction. Using this approach it was possible with urine at birth to discriminate newborns that will be later have a diagnosis of BPD with a high statistics power. In particular, we found five important discriminant metabolites in urine in BPD newborns: lactate, taurine, TMAO, myoinositol (which increased) and gluconate (which decreased). These preliminary results seem to be promising for the identification of predictor's biomarkers characterizing the BPD condition. These data may suggest that BPD is probably the result of an abnormal development (respiratory bud, vascular tree, hypodysplasia of pneumocytes) and could

  3. Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract

    PubMed Central

    van Stralen, Karlijn J.; Verrina, Enrico; Bjerre, Anna; Wanner, Christoph; Heaf, James Goya; Zurriaga, Oscar; Hoitsma, Andries; Niaudet, Patrick; Palsson, Runolfur; Ravani, Pietro; Jager, Kitty J.; Schaefer, Franz

    2013-01-01

    Summary Background and objectives Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of ESRD in children, but the proportion of patients with individual CAKUT entities progressing to ESRD during adulthood and their long-term clinical outcomes are unknown. This study assessed the age at onset of renal replacement therapy (RRT) and patient and renal graft survival in patients with CAKUT across the entire age range. Design, setting, participants, & measurements Patients with CAKUT were compared with age-matched patients who were undergoing RRT for other renal disorders on the basis of data from the European Renal Association-European Dialysis and Transplant Association Registry. Competing risk and Cox regression analyses were conducted. Results Of 212,930 patients commencing RRT from 1990 to 2009, 4765 (2.2%) had renal diagnoses consistent with CAKUT. The proportion of incident RRT patients with CAKUT decreased from infancy to childhood and then increased until age 15–19 years, followed by a gradual decline throughout adulthood. Median age at RRT start was 31 years in the CAKUT cohort and 61 years in the non-CAKUT cohort (P<0.001). RRT was started earlier (median, 16 years) in patients with isolated renal dysplasia than in those with renal hypoplasia and associated urinary tract disorders (median, 29.5–39.5 years). Patients with CAKUT survived longer than age- and sex-matched non-CAKUT controls because of lower cardiovascular mortality (10-year survival rate, 76.4% versus 70.7%; P<0.001). Conclusions CAKUT leads to ESRD more often at adult than pediatric age. Treatment outcomes differ from those of acquired kidney diseases and vary within CAKUT subcategories. PMID:23085722

  4. Renal function in children with congenital neurogenic bladder

    PubMed Central

    Olandoski, Karen Previdi; Koch, Vera; Trigo‐Rocha, Flavio Eduardo

    2011-01-01

    AIMS: Preservation of renal function in children with congenital neurogenic bladder is an important goal of treatment for the disease. This study analyzed the evolution of renal function in patients with congenital neurogenic bladder. METHODS: We reviewed the records of 58 pediatric patients with respect to the following attributes: gender, age, etiology of neurogenic bladder, reason for referral, medical/surgical management, episodes of treated urinary tract infections, urodynamics, DMSA scintigraphy, weight, height, blood pressure, glomerular filtration rate, microalbuminuria and metabolic acidosis. Statistical analysis was performed, adopting the 5% significance level. RESULTS: The mean age at presentation was 4.2 ± 3.5 years. Myelomeningocele was the most frequent etiology (71.4%). Recurrent urinary tract infection was the reason for referral in 82.8% of the patients. Recurrent urinary tract infections were diagnosed in 84.5% of the patients initially; 83.7% of those patients experienced improvement during follow‐up. The initial mean glomerular filtration rate was 146.7 ± 70.1 mL/1.73 m2/min, and the final mean was 193.6 ± 93.6 mL/1.73 m2/min, p  =  0.0004. Microalbuminuria was diagnosed in 54.1% of the patients initially and in 69% in the final evaluation. Metabolic acidosis was present in 19% of the patients initially and in 32.8% in the final assessment. CONCLUSIONS: Patient referral to a pediatric nephrologist was late. A reduction in the number of urinary tract infections was observed with adequate treatment, but microalbuminuria and metabolic acidosis occurred frequently despite adequate management. PMID:21484032

  5. [Pavlik harness for the treatment of congenital hip dysplasia types D III and IV].

    PubMed

    Zajonz, D; Strobel, S; Wojan, M; von der Höh, N; Brandmaier, P; Josten, C; Schumann, E; Heyde, C-E

    2016-01-01

    Up to 4% of all neonates in Central Europe are born with congenital hip dysplasia (CHD), the most common congenital disease of the musculoskeletal system. However, in this retrospective analysis the outcomes of infants with CHD (type D, III or IV according to Graf) have been considered, with Pavlik therapy starting within the first 12 weeks of life. Connections between the start of therapy or the first finding according to Graf`s classification and the ultrasound result achieved, as well as the X-rays taken after 1 and 2 years, were evaluated. No repositioning under Pavlik treatment or side effects and their relevance have been evaluated, especially with regard to avascular necrosis (AVN) of the femoral head. All infants treated using Pavlik treatment for CHD between 2010 and 2012 in our clinic were determined. A total of 62 patients with 79 pathological hips were included. The infants were classified into three groups to evaluate the influence of the start of therapy on the result: group I with the first investigation and start of treatment within the first 10 days of life, group II between the 11th day and the end of week 3, group III within preventive general examinations (U3) after the 4th week. Clinical examinations and the usual ultrasound scans were performed at an average of 1, 3, and 6 months. Furthermore, after 1 and 2 years clinical and radiological investigations were carried out, as well as further examinations depending on the findings. A failure of repositioning of the Pavlik treatment occurred in group I in 1 case (2.2%), in group II in 1 case (7.1%), and in group III in 2 cases (10%). This occurs in hips type D and type III in 1 case each (3.3%) and type IV in 2 cases (10.5%). Maturation disorders of the hips were found in 1 case (2.2%) in group I, 1 case (7.1%) in group II, and 3 cases (15%) in group III. Avascular necrosis of the femoral head was proven in 2 cases (4.4%) in group I, 0% in group II, and in 1 case (5%) in group III. All patients

  6. Clinical management of renal artery fibromuscular dysplasia: temporal trends and outcomes.

    PubMed

    Giavarini, Alessandra; Savard, Sébastien; Sapoval, Marc; Plouin, Pierre-François; Steichen, Olivier

    2014-12-01

    Renal artery fibromuscular dysplasia (FMD) is a heterogeneous condition with a broad and evolving phenotypic and angiographic spectrum. We documented therapeutic management in patients with renal artery FMD, by analyzing the medical records of hypertensive patients diagnosed with FMD at a single referral center from 1986 to 2012. Characteristics at presentation, treatments and outcomes were compared between patients diagnosed with FMD before and after the year 2000. Characteristics at presentation and outcomes were compared between patients managed conservatively, by angioplasty or surgery. Patients seen since 2000 (n = 278) were older, had lower blood pressure (BP) levels and were more often managed conservatively than those diagnosed before 2000 (n = 134). Revascularized patients had more often focal FMD and were more often men, diagnosed with hypertension and FMD at a younger age, had higher BP levels and a higher prevalence of renal asymmetry or infarction than patients treated conservatively. At the most recent visit, BP was below 140/90 mmHg in two-thirds of the patients, in all treatment groups. Multifocal FMD was managed conservatively in 60% of the cases (older patients, less severe hypertension) with similar BP outcome compared to revascularization, even after adjustment for potential confounding factors. The trends towards the diagnosis of FMD in older patients with less severe hypertension underscore the need for a careful selection of patients who might benefit from revascularization. This is especially true for multifocal FMD, which might be adequately managed by medication in a substantial number of cases.

  7. Treatment of hypertension in patients with renal artery stenosis due to fibromuscular dysplasia of the renal arteries

    PubMed Central

    Chrysant, George S.

    2014-01-01

    Renal artery stenosis (RAS) from fibromuscular dysplasia (FMD) is an uncommon cause of hypertension that affects mostly women. FMD is a noninflammatory vascular disease that predominantly affects mainly the renal arteries, but can also affect arteries in other vascular territories. The most common type of FMD is the media fibroplasia with the characteristic “string of beads” appearance (80-90%), whereas the two other types, the “intimal” and “adventitial” FMD are much less common accounting for 10% and <5% of cases, respectively. The prevalence of FMD in the general population is not well known. Estimates are derived from screening kidney donors, with a prevalence of about 2.6%. Among patients with renovascular hypertension (RVH), its incidence is about 10%, whereas 80-90% of RVH is due to atherosclerotic renal artery stenosis (ARAS). The treatment of choice of hypertension due to FMD is percutaneous renal angioplasty (PTRA). In contrast, hypertension due to ARAS is not frequently responsive to PTRA. In order to achieve successful control of hypertension in patients with FMD, a combination of PTRA with drugs that block the renin-angiotensin-aldosterone system (RAAS) is often necessary. The purpose of this review was to search the literature for newer diagnostic methods and treatment of FMD. Therefore, a Medline search of the English literature of published papers between 2008 and December 2013 was performed. Of 58 papers reviewed, 19 pertinent papers were selected including, studies, reviews, registries and case reports. The information from these studies together with collateral literature will be discussed in this concise review. PMID:24649423

  8. Treatment of hypertension in patients with renal artery stenosis due to fibromuscular dysplasia of the renal arteries.

    PubMed

    Chrysant, Steven G; Chrysant, George S

    2014-02-01

    Renal artery stenosis (RAS) from fibromuscular dysplasia (FMD) is an uncommon cause of hypertension that affects mostly women. FMD is a noninflammatory vascular disease that predominantly affects mainly the renal arteries, but can also affect arteries in other vascular territories. The most common type of FMD is the media fibroplasia with the characteristic "string of beads" appearance (80-90%), whereas the two other types, the "intimal" and "adventitial" FMD are much less common accounting for 10% and <5% of cases, respectively. The prevalence of FMD in the general population is not well known. Estimates are derived from screening kidney donors, with a prevalence of about 2.6%. Among patients with renovascular hypertension (RVH), its incidence is about 10%, whereas 80-90% of RVH is due to atherosclerotic renal artery stenosis (ARAS). The treatment of choice of hypertension due to FMD is percutaneous renal angioplasty (PTRA). In contrast, hypertension due to ARAS is not frequently responsive to PTRA. In order to achieve successful control of hypertension in patients with FMD, a combination of PTRA with drugs that block the renin-angiotensin-aldosterone system (RAAS) is often necessary. The purpose of this review was to search the literature for newer diagnostic methods and treatment of FMD. Therefore, a Medline search of the English literature of published papers between 2008 and December 2013 was performed. Of 58 papers reviewed, 19 pertinent papers were selected including, studies, reviews, registries and case reports. The information from these studies together with collateral literature will be discussed in this concise review.

  9. No skeletal dysplasia in the Nariokotome boy KNM-WT 15000 (Homo erectus)--a reassessment of congenital pathologies of the vertebral column.

    PubMed

    Schiess, Regula; Haeusler, Martin

    2013-03-01

    The Nariokotome boy skeleton KNM-WT 15000 is the most complete Homo erectus fossil and therefore is key for understanding human evolution. Nevertheless, since Latimer and Ohman (2001) reported on severe congenital pathology in KNM-WT 15000, it is questionable whether this skeleton can still be used as reference for Homo erectus skeletal biology. The asserted pathologies include platyspondylic and diminutive vertebrae implying a disproportionately short stature; spina bifida; condylus tertius; spinal stenosis; and scoliosis. Based on this symptom complex, the differential diagnosis of spondyloepiphyseal dysplasia tarda, an extremely rare form of skeletal dysplasia, has been proposed. Yet, our reanalysis of these pathologies shows that the shape of the KNM-WT 15000 vertebrae matches that of normal modern human adolescents. The vertebrae are not abnormally flat, show no endplate irregularities, and thus are not platyspondylic. As this is the hallmark of spondyloepiphyseal dysplasia tarda and related forms of skeletal dysplasia, the absence of platyspondyly refutes axial dysplasia and disproportionate dwarfism. Furthermore, we neither found evidence for spina bifida occulta nor manifesta, whereas the condylus tertius, a developmental anomaly of the cranial base, is not related to skeletal dysplasias. Other fossils indicate that the relatively small size of the vertebrae and the narrow spinal canal are characteristics of early hominins rather than congenital pathologies. Except for the recently described signs of traumatic lumbar disc herniation, the Nariokotome boy fossil therefore seems to belong to a normal Homo erectus youth without pathologies of the axial skeleton. Copyright © 2013 Wiley Periodicals, Inc.

  10. Spectrum of renal pathology in adult patients with congenital renal anomalies-a series from a tertiary cancer center.

    PubMed

    Dhillon, Jasreman; Mohanty, Sambit K; Kim, Tim; Sexton, Wade J; Powsang, Julio; Spiess, Philippe E

    2014-02-01

    Congenital renal anomalies (CRAs) detected in adults include horseshoe kidney (HK), crossed renal ectopia, and malrotation. Congenital renal anomalies are rare, and renal lesions associated with CRA are rarer. Thirteen patients (11 men and 2 women) were referred to our center with renal masses in the context of CRAs, which included HK (10 cases), crossed renal ectopia (2 cases), and a pelvic kidney (1 case). The mean age at diagnosis was 60 years (37-76 years). All patients were treated with open surgery; 10, partial nephrectomies; 4, radical nephrectomies; and 1, nephroureterectomy with division of the renal isthmus. Pathology ranged from benign (simple cortical cysts, chronic pyelonephritis with secondary hydronephrosis) to malignant (12 cases of renal cell carcinomas [RCCs] and 1 case of urothelial carcinoma). Two patients of HKs presented with bilateral renal masses. The size of the RCC ranged from 2.5 to 13 cm. There were 11 cases of clear cell RCC, 1 case of papillary RCC (type 1), and 1 case of urothelial carcinoma. All the cases of RCC had negative surgical margins. Follow-up available in all patients ranged from 1 month up to 49 months. None of the patients developed any locoregional recurrences or distant metastases. In this patient cohort, the most common congenital anomaly associated with RCC is HK. All tumors behaved in an indolent fashion with prognosis related to pathologic tumor stage. Partial nephrectomy is a safe and effective procedure in appropriately selected patients.

  11. [Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

    PubMed

    Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

    2012-01-01

    Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

  12. Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.

    PubMed

    Yu, Shihui; Shao, Lei; Kilbride, Howard; Zwick, David L

    2010-05-01

    Neonatal deaths account for about 67% of all deaths during the first year of life in the USA. Genetic defects are important factors contributing to neonatal deaths and congenital anomalies. Here we report on the identification of a 1.37 Mb de novo deletion of chromosome 16q24.1-q24.2 by microarray-based comparative genomic hybridization (aCGH) technique in a newborn boy with lethal severe alveolar capillary dysplasia and multiple congenital anomalies who died of irreversible pulmonary hypertension, respiratory failure and cor pulmonale at three days of age. The phenotypic findings and causal genes (FOXF1 and FOXC2) involved in producing this unusual syndrome are detailed. Our findings independently confirm the results in a previous publication describing multiple patients with similar clinical and genetic observations, and highlight the importance of scanning human genomes at high resolution for identifications of micro-imbalances as pathogenic causes in neonates with unexplained congenital anomalies. (c) 2010 Wiley-Liss, Inc.

  13. [Total hip arthroplasty for treatment of Crowe type IV congenital dysplasia of hip with dislocation in adults].

    PubMed

    Li, Wenbo; Zhang, Wenming; Bai, Guochang; Huang, Zida; Shen, Rongkai

    2013-10-01

    To study the effectiveness and acetabular prosthesis selection of the total hip arthroplasty (THA) for Crowe type IV congenital dysplasia of the hip with dislocation in adults. Between June 2008 and May 2012, 8 adult patients (8 hips) with Crowe type IV congenital dysplasia of the hip with dislocation underwent THA. They were all female, aged 20-35 years with a mean age of 25 years. The left hip was involved in 5 cases and the right hip in 3 cases. The Harris score of involved hip was 53.9 +/- 6.6. The shortened length of involved extremity was 4-6 cm (mean, 4.8 cm). The X-ray films showed complete dislocation in all cases. The acetabular prosthesis with diameter of 42-44 mm and S-ROM femoral prosthesis were used in THA. The incisions healed by first intention. There was no hip dislocation events and sciatic nerve injury during the follow-up. Femoral nerve injury occurred in 1 case and asymptomatic venous thrombosis of the leg muscle occurred in 2 cases. All the patients were followed up 1-5 years (mean, 3 years). All cases showed obvious improvement of claudication and could restore to work. At 6 months after operation, the mean length difference between affected and contralateral extremities was 0.4 cm (range, 1.0-0.6 cm); the Harris score was significantly increased to 87.6 +/- 0.3 (t = 1.77, P = 0.00). The X-ray films showed that all cases got bony union at 3-6 months after operation and stable interface between acetabular prosthesis and bone. No revision was involved during the follow-up. THA with small acetabular cup and subtrochanteric osteotomy is an effective method in the treatment of Crowe type IV congenital dysplasia of the hip with dislocation in adults. The early effectiveness is satisfactory. The long-term survival rate of prosthesis needs to be followed up.

  14. Ultrasound examination for the early determination of dysplasia and congenital dislocation of neonatal hips.

    PubMed

    Schuler, P; Feltes, E; Kienapfel, H; Griss, P

    1990-09-01

    Hip sonography enables an accurate and clinically relevant evaluation of hip maturation during the first days of human life. Experience has shown that an integration of hip sonography into neonatal screening programs is useful and necessary because clinical and even roentgenographic examination does not always establish a confirmed diagnosis of dysplasia.

  15. Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

    PubMed Central

    Gellermann, Jutta; Boyer, Olivia; Gribouval, Olivier; Ziętkiewicz, Szymon; Kari, Jameela A.; Shalaby, Mohamed A.; Ozaltin, Fatih; Dusek, Jiri; Melk, Anette; Bayazit, Aysun K.; Massella, Laura; Hyla-Klekot, Lidia; Habbig, Sandra; Godron, Astrid; Szczepańska, Maria; Bieniaś, Beata; Drożdż, Dorota; Odeh, Rasha; Jarmużek, Wioletta; Zachwieja, Katarzyna; Trautmann, Agnes; Antignac, Corinne; Schaefer, Franz

    2017-01-01

    Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-phenotype associations in 34 patients from 28 families, the largest SMARCAL1-associated nephropathy cohort to date. In 11 patients the diagnosis was made unsuspectedly through SRNS gene panel testing. Renal disease first manifested at median age 4.5 yrs, with focal segmental glmerulosclerosis or minimal change nephropathy on biopsy and rapid progression to end-stage kidney disease (ESKD) at median age 8.7 yrs. Whereas patients diagnosed by phenotype more frequently developed severe extrarenal complications (cerebral ischemic events, septicemia) and were more likely to die before age 10 years than patients identified by SRNS-gene panel screening (88 vs. 40%), the subgroups did not differ with respect to age at proteinuria onset and progression to ESKD. Also, 10 of 11 children diagnosed unsuspectedly by Next Generation Sequencing were small at diagnosis and all showed progressive growth failure. Severe phenotypes were usually associated with biallelic truncating mutations and milder phenotypes with biallelic missense mutations. However, no genotype-phenotype correlation was observed for the renal disease course. In conclusion, while short stature is a reliable clue to SIOD in children with SRNS, other systemic features are highly variable. Our findings support routine SMARCAL1 testing also in non-syndromic SRNS. PMID:28796785

  16. Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

    PubMed

    Lipska-Ziętkiewicz, Beata S; Gellermann, Jutta; Boyer, Olivia; Gribouval, Olivier; Ziętkiewicz, Szymon; Kari, Jameela A; Shalaby, Mohamed A; Ozaltin, Fatih; Dusek, Jiri; Melk, Anette; Bayazit, Aysun K; Massella, Laura; Hyla-Klekot, Lidia; Habbig, Sandra; Godron, Astrid; Szczepańska, Maria; Bieniaś, Beata; Drożdż, Dorota; Odeh, Rasha; Jarmużek, Wioletta; Zachwieja, Katarzyna; Trautmann, Agnes; Antignac, Corinne; Schaefer, Franz

    2017-01-01

    Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-phenotype associations in 34 patients from 28 families, the largest SMARCAL1-associated nephropathy cohort to date. In 11 patients the diagnosis was made unsuspectedly through SRNS gene panel testing. Renal disease first manifested at median age 4.5 yrs, with focal segmental glmerulosclerosis or minimal change nephropathy on biopsy and rapid progression to end-stage kidney disease (ESKD) at median age 8.7 yrs. Whereas patients diagnosed by phenotype more frequently developed severe extrarenal complications (cerebral ischemic events, septicemia) and were more likely to die before age 10 years than patients identified by SRNS-gene panel screening (88 vs. 40%), the subgroups did not differ with respect to age at proteinuria onset and progression to ESKD. Also, 10 of 11 children diagnosed unsuspectedly by Next Generation Sequencing were small at diagnosis and all showed progressive growth failure. Severe phenotypes were usually associated with biallelic truncating mutations and milder phenotypes with biallelic missense mutations. However, no genotype-phenotype correlation was observed for the renal disease course. In conclusion, while short stature is a reliable clue to SIOD in children with SRNS, other systemic features are highly variable. Our findings support routine SMARCAL1 testing also in non-syndromic SRNS.

  17. Tarsal Bone Dysplasia in Clubfoot as Measured by Ultrasonography: Can It be Used as a Prognostic Indicator in Congenital Idiopathic Clubfoot? A Prospective Observational Study.

    PubMed

    Chandrakanth, Udayakumar; Sudesh, Pebam; Gopinathan, NirmalRaj; Prakash, Mahesh; Goni, Vijay G

    2016-01-01

    Congenital talipes equinovarus (CTEV )/clubfoot is the most common congenital orthopedic condition. The success rate of Ponseti casting in the hands of the legend himself is not 100%. The prediction of difficult to correct foot and recurrences still remains a mystery to be solved. We all know that tarsal bones are dysplastic in clubfoot and considering it; we hypothesize that the amount of tarsal dysplasia can predict management duration and outcome. In literature we were not able to find studies that satisfactorily quantify the amount of tarsal dysplasia. Hence, it was considered worthwhile to quantify the amount of dysplasia in tarsal bone and to correlate these parameters with the duration and outcome of treatment by conventional method. A total of 25 infants with unilateral idiopathic clubfoot that have not taken any previous treatment were included in the study. An initial ultrasonography was done before start of treatment in 3 standard planes to measure the maximum length of 3 tarsal bones (talus, calcaneus, and navicular). Ponseti method of treatment was used; pirani scoring was done at each OPD (out patient department) visit. Number of casts required for complete correction and need for any surgical intervention were taken as the outcome parameters. We found that there is a significant correlation between number of casts required and the dysplasia of talus (α error=0.05). We also found a significant negative correlation between relative dysplasia of talus and number of casts required (r=-0.629 sig=0.001, r=-0.552 sig=0.004). Tarsal bone dysplasia as quantified by using ultrasonography can be used as a prognostic indicator in congenital idiopathic clubfoot. Although promising the method needs further studies and can be more useful after long-term follow-up where recurrences if any can be documented. Level II.

  18. Evaluation of the Reliability and Validity of the Crawford Classification of Congenital Tibial Dysplasia

    DTIC Science & Technology

    2007-12-01

    was sent to 27 consented volunteers in the radiology and orthopedic communities, and 21 provided a rating. Each volunteer was asked to re-classify...tested. Our objective is to analyze both the reliability and the validity of the Crawford radiologic classification of tibial dysplasia. Radiographs...and determined appropriate ways to identify and request xrays that had been compiled in the Department of Radiology . IRB approval was clarified from

  19. Molecular basis of renal adaptation in a murine model of congenital obstructive nephropathy.

    PubMed

    Becknell, Brian; Carpenter, Ashley R; Allen, Jordan L; Wilhide, Michael E; Ingraham, Susan E; Hains, David S; McHugh, Kirk M

    2013-01-01

    Congenital obstructive nephropathy is a common cause of chronic kidney disease and a leading indication for renal transplant in children. The cellular and molecular responses of the kidney to congenital obstruction are incompletely characterized. In this study, we evaluated global transcription in kidneys with graded hydronephrosis in the megabladder (mgb (-/-)) mouse to better understand the pathophysiology of congenital obstructive nephropathy. Three primary pathways associated with kidney remodeling/repair were induced in mgb (-/-) kidneys independent of the degree of hydronephrosis. These pathways included retinoid signaling, steroid hormone metabolism, and renal response to injury. Urothelial proliferation and the expression of genes with roles in the integrity and maintenance of the renal urothelium were selectively increased in mgb (-/-) kidneys. Ngal/Lcn2, a marker of acute kidney injury, was elevated in 36% of kidneys with higher grades of hydronephrosis. Evaluation of Ngal(high) versus Ngal(low) kidneys identified the expression of several novel candidate markers of renal injury. This study indicates that the development of progressive hydronephrosis in mgb (-/-) mice results in renal adaptation that includes significant changes in the morphology and potential functionality of the renal urothelium. These observations will permit the development of novel biomarkers and therapeutic approaches to progressive renal injury in the context of congenital obstruction.

  20. Molecular Basis of Renal Adaptation in a Murine Model of Congenital Obstructive Nephropathy

    PubMed Central

    Allen, Jordan L.; Wilhide, Michael E.; Ingraham, Susan E.; Hains, David S.; McHugh, Kirk M.

    2013-01-01

    Congenital obstructive nephropathy is a common cause of chronic kidney disease and a leading indication for renal transplant in children. The cellular and molecular responses of the kidney to congenital obstruction are incompletely characterized. In this study, we evaluated global transcription in kidneys with graded hydronephrosis in the megabladder (mgb−/−) mouse to better understand the pathophysiology of congenital obstructive nephropathy. Three primary pathways associated with kidney remodeling/repair were induced in mgb−/− kidneys independent of the degree of hydronephrosis. These pathways included retinoid signaling, steroid hormone metabolism, and renal response to injury. Urothelial proliferation and the expression of genes with roles in the integrity and maintenance of the renal urothelium were selectively increased in mgb−/− kidneys. Ngal/Lcn2, a marker of acute kidney injury, was elevated in 36% of kidneys with higher grades of hydronephrosis. Evaluation of Ngalhigh versus Ngallow kidneys identified the expression of several novel candidate markers of renal injury. This study indicates that the development of progressive hydronephrosis in mgb−/− mice results in renal adaptation that includes significant changes in the morphology and potential functionality of the renal urothelium. These observations will permit the development of novel biomarkers and therapeutic approaches to progressive renal injury in the context of congenital obstruction. PMID:24023768

  1. The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report.

    PubMed

    Akhter, N; Begum, B N; Newaz, M

    2015-07-01

    We report on a 22 years old lady with aplasia of uterus and most of the vagina with normal secondary sexual characteristics, unilateral renal hypoplasia and anomalies of cervico throacic somites (MURCS Association), growth retardation, cardiac defect and congenital urethrovaginal fistula. Although there is a broad spectrum of anomalies described with MURCS association genitourinary fistula is not yet reported and reviewed in published articles. The relevance of this paper is to show the importance of further investigation in cases of primary amenorrhoea with mullerian agenesis to establish that the patient has MURCS association and not simply MRKH (Mayer Rokitansky-Kusterhauser Syndrome) syndrome. Consequently we should provide guidance to the patients and their families about the best way to conduct the case including genetic counseling and family screening.

  2. Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.

    PubMed

    Weiss, Karin; Applegate, Carolyn; Wang, Tao; Batista, Denise A S

    2015-11-01

    Haploinsufficiency of TAB2 was recently implicated as a cause for a variety of congenital heart defects. Reported cases have genomic deletions of 2-10 Mbs including TAB2 at 6q24-25 are almost always de novo and show variable cardiac and extra cardiac phenotype. We report on an inherited, 281 kb deletion in a three generation family. This is the smallest reported deletion involving TAB2 that segregates with congenital heart defects. Three affected individuals in this family present with myxomatous cardiac valves in addition to structural heart defects commonly associated with TAB2 deletions. Findings from this family support a key role of TAB2 haploinsufficiency in congenital heart defects and expand the phenotypic spectrum of TAB2-microdeletion syndrome.

  3. Overexpression of Indian hedgehog partially rescues short stature homeobox 2-overexpression-associated congenital dysplasia of the temporomandibular joint in mice

    PubMed Central

    LI, XIHAI; LIANG, WENNA; YE, HONGZHI; WENG, XIAPING; LIU, FAYUAN; LIN, PINGDONG; LIU, XIANXIANG

    2015-01-01

    The role of short stature homeobox 2 (shox2) in the development and homeostasis of the temporomandibular joint (TMJ) has been well documented. Shox2 is known to be expressed in the progenitor cells and perichondrium of the developing condyle. A previous study by our group reported that overexpression of shox2 leads to congenital dysplasia of the TMJ via downregulation of the Indian hedgehog (Ihh) signaling pathway, which is essential for embryonic disc primordium formation and mandibular condylar growth. To determine whether overexpression of Ihh may rescue the overexpression of shox2 leading to congenital dysplasia of the TMJ, a mouse model in which Ihh and shox2 were overexpressed (Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice) was utilized to assess the consequences of this overexpression on TMJ development during post-natal life. The results showed that the developmental process and expression levels of runt-related transcription factor 2 and sex determining region Y-box 9 in the TMJ of the Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice were similar to those in wild-type mice. Overexpression of Ihh rescued shox2 overexpression-associated reduction of extracellular matrix components. However, overexpression of Ihh did not inhibit the shox2 overexpression-associated increase of matrix metalloproteinases (MMPs) MMP9, MMP13 and apoptosis in the TMJ. These combinatory cellular and molecular defects appeared to account for the observed congenital dysplasia of TMJ, suggesting that overexpression of Ihh partially rescued shox2 overexpression-associated congenital dysplasia of the TMJ in mice. PMID:26096903

  4. Overexpression of Indian hedgehog partially rescues short stature homeobox 2-overexpression-associated congenital dysplasia of the temporomandibular joint in mice.

    PubMed

    Li, Xihai; Liang, Wenna; Ye, Hongzhi; Weng, Xiaping; Liu, Fayuan; Lin, Pingdong; Liu, Xianxiang

    2015-09-01

    The role of short stature homeobox 2 (shox2) in the development and homeostasis of the temporomandibular joint (TMJ) has been well documented. Shox2 is known to be expressed in the progenitor cells and perichondrium of the developing condyle. A previous study by our group reported that overexpression of shox2 leads to congenital dysplasia of the TMJ via downregulation of the Indian hedgehog (Ihh) signaling pathway, which is essential for embryonic disc primordium formation and mandibular condylar growth. To determine whether overexpression of Ihh may rescue the overexpression of shox2 leading to congenital dysplasia of the TMJ, a mouse model in which Ihh and shox2 were overexpressed (Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice) was utilized to assess the consequences of this overexpression on TMJ development during post-natal life. The results showed that the developmental process and expression levels of runt-related transcription factor 2 and sex determining region Y-box 9 in the TMJ of the Wnt1-Cre; pMes-stop shox2; pMes-stop Ihh mice were similar to those in wild‑type mice. Overexpression of Ihh rescued shox2 overexpression-associated reduction of extracellular matrix components. However, overexpression of Ihh did not inhibit the shox2 overexpression-associated increase of matrix metalloproteinases (MMPs) MMP9, MMP13 and apoptosis in the TMJ. These combinatory cellular and molecular defects appeared to account for the observed congenital dysplasia of TMJ, suggesting that overexpression of Ihh partially rescued shox2 overexpression‑associated congenital dysplasia of the TMJ in mice.

  5. Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

    PubMed Central

    Grampa, Valentina; Odye, Gweltas; Thomas, Sophie; Elkhartoufi, Nadia; Filhol, Emilie; Niel, Olivier; Silbermann, Flora; Lebreton, Corinne; Collardeau-Frachon, Sophie; Rouvet, Isabelle; Alessandri, Jean-Luc; Devisme, Louise; Dieux-Coeslier, Anne; Cordier, Marie-Pierre; Capri, Yline; Khung-Savatovsky, Suonavy; Sigaudy, Sabine; Salomon, Rémi; Antignac, Corinne; Gubler, Marie-Claire; Benmerah, Alexandre; Terzi, Fabiola; Attié-Bitach, Tania; Jeanpierre, Cécile; Saunier, Sophie

    2016-01-01

    Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to identify novel genes whose mutations would cause severe developmental ciliopathies, >500 patients/fetuses were analyzed by a targeted high throughput sequencing approach allowing exome sequencing of >1200 ciliary genes. NEK8/NPHP9 mutations were identified in five cases with severe overlapping phenotypes including renal cystic dysplasia/hypodysplasia, situs inversus, cardiopathy with hypertrophic septum and bile duct paucity. These cases highlight a genotype-phenotype correlation, with missense and nonsense mutations associated with hypodysplasia and enlarged cystic organs, respectively. Functional analyses of NEK8 mutations in patient fibroblasts and mIMCD3 cells showed that these mutations differentially affect ciliogenesis, proliferation/apoptosis/DNA damage response, as well as epithelial morphogenesis. Notably, missense mutations exacerbated some of the defects due to NEK8 loss of function, highlighting their likely gain-of-function effect. We also showed that NEK8 missense and loss-of-function mutations differentially affect the regulation of the main Hippo signaling effector, YAP, as well as the expression of its target genes in patient fibroblasts and renal cells. YAP imbalance was also observed in enlarged spheroids of Nek8-invalidated renal epithelial cells grown in 3D culture, as well as in cystic kidneys of Jck mice. Moreover, co-injection of nek8 MO with WT or mutated NEK8-GFP RNA in zebrafish embryos led to shortened dorsally curved body axis, similar to embryos injected with human YAP RNA. Finally, treatment with Verteporfin, an inhibitor of YAP transcriptional activity, partially rescued the 3D spheroid defects of Nek8-invalidated cells and the abnormalities of NEK8-overexpressing zebrafish embryos

  6. Megabladder mouse model of congenital obstructive nephropathy: genetic etiology and renal adaptation.

    PubMed

    McHugh, Kirk M

    2014-04-01

    Congenital obstructive nephropathy remains one of the leading causes of chronic renal failure in children. The direct link between obstructed urine flow and abnormal renal development and subsequent dysfunction represents a central paradigm of urogenital pathogenesis that has far-reaching clinical implications. Even so, a number of diagnostic, prognostic, and therapeutic quandaries still exist in the management of congenital obstructive nephropathy. Studies in our laboratory have characterized a unique mutant mouse line that develops in utero megabladder, variable hydronephrosis, and progressive renal failure. Megabladder mice represent a valuable functional model for the study of congenital obstructive nephropathy. Recent studies have begun to shed light on the genetic etiology of mgb (-/-) mice as well as the molecular pathways controlling disease progression in these animals.

  7. Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.

    PubMed Central

    Myong, N. H.; Park, J. W.; Chi, J. G.

    1998-01-01

    Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys, in a 28 week old female fetus. She was born dead to a 28 year old mother, showing a hydropic change, narrow thorax, and shortened limbs with postaxial heptasyndactyly of both hands and feet. Radiologic examination revealed short horizontal ribs, curved short tubular limb bones, small ilia and scapula, and a mild vertebral abnormality. Postmortem examination disclosed pulmonary hypoplasia, pancreatic cysts, hepatic fibrosis, and left persistent superior vena cava. In addition this case had bilateral huge polycystic renal dysplasia that was seldom described in any type of SRPS. Histologic sections of the vertebrae disclosed abnormal enchondral ossification with irregular and retarded hypertrophic zone. PMID:9610623

  8. Ectodermal dysplasias.

    PubMed

    Itin, Peter H; Fistarol, Susanna K

    2004-11-15

    Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic). The ectodermal dysplasias, as a rule, are not pure "one-layer diseases." Mesodermal and, rarely, endodermal dysplasias coexist. Embryogenesis exhibits distinct tissue organizational fields and specific interactions among the germ layers that may lead to a wide range of ectodermal dysplasias when genes important for development are mutated or otherwise altered in expression. Of the approximately 200 different ectodermal dysplasias, about 30 have been studied at the molecular level with identification of the causative gene. Freire-Maia and Pinheiro used the clinical aspects for their classification, and Priolo integrated molecular genetic and clinical aspects for her scheme. Those two more historical classification schemes have the difficulty that, when applied strictly, several additional groups of diseases should be integrated within the term "ectodermal dysplasias," e.g. keratodermas with skin or hair alterations or the ichthyoses with associated features. Such consequent classification would lead to an endless list of diseases and would be useless for the practical work. Recent evidence implicates a genetic defect in different pathways orchestrating ectodermal organogenesis. Modern molecular genetics will increasingly elucidate the basic defects of the different syndromes and yield more insight into the regulatory mechanisms of embryology. In this way, a reclassification of ectodermal dysplasias will be possible according to the function of their involved mutated genes. Lamartine recently proposed a helpful classification according to the functions of the genes discovered in different types of ectodermal dysplasias

  9. The occurrence and suspected mode of inheritance of congenital subaortic stenosis and tricuspid valve dysplasia in Dogue de Bordeaux dogs.

    PubMed

    Ohad, D G; Avrahami, A; Waner, T; David, L

    2013-08-01

    The Dogue de Bordeaux (DdB) breed has gone through several genetic 'bottle necks' and has a relatively small effective population size. Importing new stock into Israel has been limited, further narrowing the already restricted local gene-pool and increasing the chances of inherited defects. In 56 DdB dogs examined between 2003 and 2010, the authors sought to study the proportion congenital subaortic stenosis (SAS) and tricuspid valve dysplasia (TVD). The aim was also to identify a probable mode of inheritance (MOI) using segregation and pedigree analyses of genealogical data available from 13/21 DdB dogs diagnosed with these conditions between 2004 and 2007. Among all breeds in the country, TVD was highest in the DdB breed, which also displayed the second highest proportion of SAS. Echocardiographic measurements and selected physical examination findings from 26 normal DdB dogs, 18 DdB dogs with SAS, and 12 DdB dogs with TVD are reported. Based on pedigree and segregation analyses, the most probable MOI appeared to be autosomal recessive. Pedigree analyses helped to identify three ancestors that might have introduced these two congenital heart defects into the local DdB population. Excluding those three dogs and their progeny from future mating could therefore reduce the prevalence of these diseases in the DdB population in Israel. The unusual local breeding circumstances may offer a unique opportunity to identify associated SAS and TVD genes in the DdB, as well as in other dog breeds. Copyright © 2013 Elsevier Ltd. All rights reserved.

  10. Biomechanical evaluation of different abduction splints for the treatment of congenital hip dysplasia.

    PubMed

    Kreuz, Peter C; Fröhlich, Susanne; Lindner, Tobias; Olbertz, Dirk; Bader, Rainer; Mittelmeier, Wolfram

    2012-11-01

    Abduction splints for the treatment of hip dysplasia normally operate on curbing the legs at the hip flexion and abduction. The forces are absorbed in different designs of shoulder straps and thus diverted to the shoulder and the spine. The present study is the first comparing these undesired forces of two spread orthoses and subsequently the transmitted forces to the infant's spine. Between March 2009 and October 2009 the hips of 290 infants were investigated by ultrasound within the first 3 days after birth. Thereof 20 infants with a hip dysplasia Graf type IIc, D or IIIa met our inclusion criteria and were investigated with a Tübinger and a Superior abduction splint. Biomechanical evaluation was performed by using a high-sensitive strain gauge sensor applied to the infant's orthoses between pelvic harness and shoulder straps. The transmitted forces to the infant's shoulders correlated significantly with their body mass (P<0.05). Maximal forces on the shoulder of the infants and subsequently transmitted forces on the spine were significantly higher (P<0.05) with the Tübinger splint (range 7.6N to 32.3N; arithmetic mean M: 13.7N) in comparison to the Superior orthosis (range 0.0N to 3.5N; M: 0.7N). The Superior orthosis works with primary load transmission to the pelvic bone. Using the Tübinger splint the shoulders of the newborn infants are loaded with a maximum of 93.9% of their body mass. This may influence the development of the growing infant's spine. Copyright © 2012 Elsevier Ltd. All rights reserved.

  11. Arthroplasty in patients with congenital hip dysplasia--early evaluation of a treatment method.

    PubMed

    Bożek, Marek; Bielecki, Tomasz; Nowak, Roman; Żelawski, Maciej

    2013-01-01

    Developmental hip dysplasia (DHD) is the most common cause of secondary hip osteoarthritis (OA). It often leads to OA in young, active and working adults. The aim of our study is to evaluate the results of THA in patients with DHD. Total hip arthroplasty was performed in 15 patients with DHD - 13 women (average age - 39) and 2 men (average age - 44) between June 2010 to June 2011. Patient's hips were estimated by Crowe classification to evaluate the severity of degenerative arthritis. Patients we reassessed with Harris Hip Score before and after the surgery. The mean preoperative score was 44.6 points, directly after surgery 62.4 pts., 6 months after 78.6 points. After artrhroplasty, improvement was noted in walking stairs without railing, walking without support, sitting on chair for more than 1 hour. Before the surgery average difference in limbs" length was 4 cm After the treatment it was reduced to 0.5 cm. Mean hip flexion was 40 ° before, 90 ° after the surgery, mean abduction was respectively 0° and 25°. Our study proves that total hip arthroplasty in patients with developmental dysplasia of hip helps to improve stability and mobility of joint and to reduce the pain. 1. In the type 1 and 2 according to Crow's classification, good clinical results may be achieved using standard prosthesis stem sizes and press-fit acebutalar component with possibly the smallest diameter providing stable placing. 2. In the case of ty pe III good results are observed using acetabular press-fit method for fixing, after reconstruction of bone defects with osteogenous bone graft. 3. The usage of big head dimensions gives beneficial effects on the osseointegration of the acetabular component and reduces the risk of dislocation. 4. A short follow-up period of the group of patients presented requires further prospective study to evaluate the long-term results.

  12. Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux

    SciTech Connect

    Devriendt, K.; Fryns, J.P.

    1995-11-20

    Robson et al. suggest that renal agenesis, multicystic renal dysplasia (MRD), and uretero-pelvic junction (PUJ) stenosis are pathogenetically related. They proposed a vascular disruption as the cause, with the variable severity of the disorder related to the timing of the abnormal blood supply to the ureteric bud. Alternatively, there exists convincing evidence of a genetic cause transmitted as an autosomal dominant disorder with variable expression, and with a candidate gene localized on chromosome arm 6p. Combinations of these urological malformations occur in the same individual or in different relatives in the same family. In several families with PUJ-stenosis, linkage with the HLA-locus on 6p has been demonstrated. Furthermore, we recently described a patient with a de novo reciprocal translocation involving the same region on 6p in a patient with bilateral multicystic renal dysplasia. Most disease-associated reciprocal translocations appear to have a breakpoint within a candidate gene: therefore, it is reasonable to hypothesize that the breakpoint on 6p in this patient resides within a gene causing MRD. This suggests that mutations in the same gene may lead either to PUJ-stenosis or, when the stenosis is complete, to MRD. A translocation is expected to result in a complete disruption of the gene, and this could explain the severe clinical expression of bilateral MRD. Less severe mutations in the same gene, associated with a partially conserved gene function, could lead to PUJ-stenosis. 11 refs.

  13. Misexpression of Six2 is Associated with Heritable Frontonasal Dysplasia and Renal Hypoplasia in 3H1 Br Mice

    PubMed Central

    Fogelgren, Ben; Kuroyama, Mari C.; McBratney-Owen, Brandeis; Spence, Allyson A.; Melahn, Laura E.; Anawati, Mireille K.; Cabatbat, Chantelle; Alarcon, Vernadeth B.; Marikawa, Yusuke; Lozanoff, Scott

    2010-01-01

    A radiation-induced mouse mutant, Brachyrrhine (Br), exhibits frontonasal dysplasia and renal hypoplasia, two malformations associated with deficiencies in mesenchymal condensation. The purpose of this study was to resolve the Br locus, evaluate possible candidate genes, and identify developmental defects in the mutant chondrocranium. Linkage analysis mapped the Br mutation to a critical region distal to D17Mit76 which contains only one gene, the transcription factor Six2. Sequence analysis of the Six2 gene, including 1.5 kb of the promoter, failed to reveal the Br mutation. However, homozygous Br/Br embryos showed almost complete absence of Six2 mRNA and protein in craniofacial and renal tissues while heterozygous Br/+ embryos displayed intermediate Six2 levels. Mutant embryos displayed malformations of neural crest-derived structures of the anterior cranium where Six2 is normally expressed. These data suggest a mutation in a novel cis-acting regulatory region inhibits Six2 expression and is associated with frontonasal dysplasia and renal hypoplasia. PMID:18570229

  14. [An ultrasonographic study of the correlation between developmental dysplasia of the hip and congenital muscular torticollis in children].

    PubMed

    Wang, Na; Zhang, Yu-le; Guan, Bu-Yun; Zhu, Li-Ling; He, Xue-Hua; Fang, Qian; Liang, Zhi-Cheng

    2017-07-20

    To investigate the significance of early screening of pediatric developmental dysplasia of the hip (DDH) and congenital muscular torticollis (CMT) using ultrasonography and establish a simultaneous screening model for pediatric DDH and CMT. From January, 2013 to January, 2016, a total of 5060 pediatric patients with suspected DDH and CMT underwent ultrasonic examinations. The diagnostic results of the two diseases were classified into different clinical types, and Chi-square test was used to analyze the one-way relationship between different types of DDH and CMT; correspondence analysis was used for multivariate analysis of the variables. Chi-square test was used to analyze the difference between the detection rates in suspected CMT patients and the normal population. GrafIIa type DDH was associated with mass-type CMT in the children (χ(2)=331.800, P<0.001). DDH of GrafIIb, GrafIIc, Graf III, and Graf IV types were related with non-tumor type of CMT. The children with a suspected diagnosis of CMT showed a significantly higher detection rate of DDH than the normal subjects (χ(2)=321.889, P<0.001). DDH is closely related with CMT. Early simultaneous screening of DDH and CMT can help to improve the early diagnosis rate of CMT in children.

  15. The utility of ultrasonography for the diagnosis of developmental dysplasia of hip joint in congenital muscular torticollis.

    PubMed

    Park, Hyeng Kue; Kang, Eun Young; Lee, Sung Hoon; Kim, Kyoung Min; Jung, A Young; Nam, Doo Hyoun

    2013-02-01

    To determine whether a routine ultrasonography (US) is necessary for diagnosis of developmental dysplasia of hip (DDH), presenting with congenital muscular torticollis (CMT). Cases of 133 patients (81 males, 52 females) diagnosed as CMT were reviewed, retrospectively. We reviewed the medical charts and diagnostic examination. We also assessed the coincidence of CMT and DDH, and investigated the clinical features of CMT related to DDH. Twenty (15.0%) patients out of 133 CMT patients were diagnosed as having DDH by US. Of whom, 8 patients were radiographically positive and 4 patients were both clinically and radiographically positive. Nine patients were treated with a harness and 1 of them needed closed reduction and casting. Out of 9 patients treated with a harness, only 4 were clinically positive. The difference and ratio of the sternocleidomastoid (SCM) muscle thickness between the normal and abnormal side was significantly greater in DDH patients (p=0.014). Further, receiver operating characteristic analysis showed when the SCM ratio is greater than 2.08 and the SCM difference is greater than 6.1 mm, the efficiency of US for the diagnosis of the DDH was found to be the best (p<0.05). To evaluate DDH, physical examination showed low sensitivity and radiologic study has limitation for the child before 4 to 6 months of age. Therefore, we recommend that hip is screened by US for the diagnosis of DDH associated with CMT when physical examination is positive or CMT patients with large SCM difference and high SCM ratio.

  16. Extensive papillomatosis of the palate exhibiting epithelial dysplasia and HPV 16 gene expression in a renal transplant recipient.

    PubMed

    Al-Osman, Abdulrahman; Perry, John B; Birek, Catalena

    2006-05-01

    We report a unique case of extensive papillomatosis of the palate in a renal transplant recipient. The condition resembled inflammatory papillary hyperplasia; it exhibited severe epithelial dysplasia and concurred with generalized gingival hyperplasia. We document and discuss the probable multifactorial etiology of the lesions, including evidence for human papillomavirus (HPV) type 16 expression, as detected by in situ reverse transcription polymerase chain reaction. This report illustrates the need for careful clinical investigation and follow-up of immunosuppressed individuals presenting with apparently benign, common oral lesions.

  17. Congenital solitary kidney with multiple renal arteries: case report using MDCT angiography.

    PubMed

    Matusz, Petru; Miclăuş, Graţian Dragoslav; Banciu, Christian Dragoş; Sas, Ioan; Joseph, Shamfa C; Pirtea, Laurenţiu Cornel; Tubbs, R Shane; Loukas, Marios

    2015-01-01

    A congenital solitary kidney with multiple renal arteries is a rare congenital abnormality that can occur in the presence of multiple other anomalies. We describe an atypical case of a right congenital solitary kidney with three renal arteries (RA) one main RA and two additional renal arteries in a 75-year-old woman with uterine didelphys. The main RA had an intraluminal diameter larger than the diameter of the additional renal arteries (AdRAs) at the origin (0.53 cm for the main RA; 0.49 cm and 0.32 cm for the two AdRAs). Both the AdRAs had a greater length than the main RA (3.51 cm for the main RA; 3.70 cm and 4.77 cm for the two AdRAs). The calculated volume of the kidney was 283 cm³, while the volume of the renal parenchyma was 258 cm³. Knowledge of this variant is extremely important in clinical practice as it has been found to be associated with proteinuria, hypertension and renal insufficiency.

  18. Renal artery stenosis in association with congenital anomalies of the kidney and urinary tract.

    PubMed

    Kari, Jameela A; Roebuck, Derek J; Tullus, Kjell

    2014-10-01

    To describe 8 cases of renal artery stenosis (RAS) in children with congenital anomalies of the renal tract. We conducted a retrospective chart review of 78 children with RAS who were followed up at Great Ormond Street Hospital, London, United Kingdom between 2003 and 2012. We used an interventional radiology database to identify all patients who had RAS confirmed by digital subtraction angiography and examined all cases of congenital anomaly of the renal tract that had been diagnosed during childhood. We documented the following renal anomalies: multicystic dysplastic kidney (n=2), renal hypoplasia (n=1), congenital solitary kidney with hydronephrosis (n=1), and unilateral vesicoureteric reflux with poorly functioning kidneys (n=2). The anomaly was unknown in 2 cases. Seven children had unilateral nephrectomy at a median age of 2.5 years (range, 0.4-10 years) for various urological abnormalities. All children were confirmed to have RAS after presentation with hypertension at a median age of 10 (3.5-16.2) years. Angioplasty was performed in 7 children, of which 6 achieved control of their blood pressure on reduced medications. We highlight the association between RAS and other renal anomalies, which indicates that they could share a common genetic background.

  19. Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

    PubMed Central

    Wang, Li; Lin, Qiong-Fen; Wang, Hong-Yang; Guan, Jing; Lan, Lan; Xie, Lin-Yi; Yu, Lan; Yang, Ju; Zhao, Cui; Liang, Jin-Long; Zhou, Han-Lin; Yang, Huan-Ming; Xiong, Wen-Ping; Zhang, Qiu-Jing; Wang, Da-Yong; Wang, Qiu-Ju

    2017-01-01

    Background: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases. Methods: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was performed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial HDR syndrome cases analyzed were provided. Results: In Chinese family 7121, a heterozygous nonsense mutation c.826C>T (p.R276*) was identified in GATA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations. Conclusions: This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated. PMID:28303854

  20. Increased prevalence of preeclampsia among women undergoing procedural intervention for renal artery fibromuscular dysplasia.

    PubMed

    Vance, Chardonnay J; Taylor, Robert N; Craven, Timothy E; Edwards, Matthew S; Corriere, Matthew A

    2015-08-01

    Renal artery fibromuscular dysplasia (RA-FMD) has a higher prevalence among women and a presumed hormonal etiology. Although preeclampsia has a clinical presentation similar to symptomatic RA-FMD and occurs exclusively in women, associations between these 2 diseases have not been characterized. To explore epidemiologic associations between RA-FMD and preeclampsia, we administered a validated screening instrument for preeclampsia to a cohort of women with a history of pregnancy who had previously been treated with procedural intervention for symptomatic RA stenosis. Women with a history of pregnancy who had previously undergone procedural intervention (including angioplasty and/or bypass) for symptomatic RA stenosis were identified from a prospectively maintained operative registry and screened for remote history of preeclampsia using a validated survey instrument. Univariable associations between RA-FMD and preeclampsia among participants with a history of pregnancy were evaluated using t-tests for continuous factors and chi-squared tests for dichotomous factors. Multivariable associations were evaluated using logistic regression models. A total of 144 women were identified who met the study inclusion criteria, including 94 with atherosclerotic RA stenosis and 50 with RA-FMD. Sixty-nine patients were contacted, 59 consented to participate, and 52 had a history of pregnancy (and therefore were at risk for preeclampsia). Participants completed the survey instrument at a mean of 7.1 ± 3.1 vs. 6.9 ± 3.6 years after RA procedural intervention, respectively. Survey responses indicated a history of preeclampsia in 19/52 (36.5%) of participants overall, including 14/27 (51.9%) with RA-FMD versus 5/20 (20.0%) with RA atherosclerosis (P = 0.02). Preeclampsia remained associated with FMD in a multivariable model adjusting for smoking status, age at time of surgery, and estimated glomerular filtration rate (odds ratio [OR] 9.51, 95% confidence interval [CI] 1.49-60.6, P = 0

  1. Renal function in congenital anomalies of the kidney and urinary tract.

    PubMed

    Kemper, M J; Müller-Wiefel, D E

    2001-11-01

    Congenital anomalies of the kidneys and urinary tract are a major cause of chronic and end-stage renal failure in children. The molecular mechanisms having been elaborated, there is now growing evidence that kidney function is to a large extent determined genetically at an early stage. Assessment of kidney function is an important tool in clinical medicine and is feasible in utero. Postnatally, determination of absolute glomerular filtration rate and also of split and excretory renal function play an important role in the determination of treatment and prognosis. This is supplemented by other biochemical, molecular and interventional prognostic factors, which are of help in preservation of kidney survival by minimizing modulating factors. If chronic or terminal renal failure ensues in childhood or even in early infancy, however, improved medical care has led to encouraging results, ultimately influencing the motivation in the care of children with congenital anomalies of the kidney and urinary tract.

  2. Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene.

    PubMed

    Kamezaki, Michitsugu; Kusaba, Tetsuro; Adachi, Takaomi; Yamashita, Noriyuki; Nakata, Mayumi; Ota, Noriyoshi; Shiotsu, Yayoi; Ishida, Mami; Usui, Takeshi; Tamagaki, Keiichi

    2017-01-01

    Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant disease caused by GATA3 mutations. Although several cases with variable renal features have been reported, the presence of histological changes within the glomeruli in adult patients is unclear. We herein report an adult case of HDR syndrome with a novel p.C288W (TGC>TGG) missense mutation in GATA3. His renal histology showed a membranoproliferative glomerulonephritis-like glomerular lesion. Additional renal histological analyses of HDR syndrome patients will be needed to clarify the role of GATA3 in both the developing and adult kidney.

  3. The Utility of Ultrasonography for the Diagnosis of Developmental Dysplasia of Hip Joint in Congenital Muscular Torticollis

    PubMed Central

    Park, Hyeng Kue; Lee, Sung Hoon; Kim, Kyoung Min; Jung, A Young; Nam, Doo Hyoun

    2013-01-01

    Objective To determine whether a routine ultrasonography (US) is necessary for diagnosis of developmental dysplasia of hip (DDH), presenting with congenital muscular torticollis (CMT). Methods Cases of 133 patients (81 males, 52 females) diagnosed as CMT were reviewed, retrospectively. We reviewed the medical charts and diagnostic examination. We also assessed the coincidence of CMT and DDH, and investigated the clinical features of CMT related to DDH. Results Twenty (15.0%) patients out of 133 CMT patients were diagnosed as having DDH by US. Of whom, 8 patients were radiographically positive and 4 patients were both clinically and radiographically positive. Nine patients were treated with a harness and 1 of them needed closed reduction and casting. Out of 9 patients treated with a harness, only 4 were clinically positive. The difference and ratio of the sternocleidomastoid (SCM) muscle thickness between the normal and abnormal side was significantly greater in DDH patients (p=0.014). Further, receiver operating characteristic analysis showed when the SCM ratio is greater than 2.08 and the SCM difference is greater than 6.1 mm, the efficiency of US for the diagnosis of the DDH was found to be the best (p<0.05). Conclusion To evaluate DDH, physical examination showed low sensitivity and radiologic study has limitation for the child before 4 to 6 months of age. Therefore, we recommend that hip is screened by US for the diagnosis of DDH associated with CMT when physical examination is positive or CMT patients with large SCM difference and high SCM ratio. PMID:23524480

  4. Congenital capillary proliferation of the kidney: a distinctive renal vascular lesion of childhood.

    PubMed

    Cajaiba, Mariana M; North, Paula E; Gong, Shunyou; Dickman, Paul S; Mroczek-Musulman, Elizabeth; Sauer, David A; Perlman, Elizabeth J

    2017-08-01

    Renal vascular lesions (RVL) are rare, and their morphological spectrum remains largely unknown, particularly in children. In this study, we characterize the clinicopathological features of RVL in a cohort of 12 children. Seven lesions were classified as previously recognized entities: vascular malformations (4), papillary endothelial hyperplasia (2), and pyogenic granuloma (lobular capillary hemangioma; 1). An eighth lesion showed nonspecific findings, which were interpreted as reactive during our review. The remaining 4 cases presented either prenatally, at birth, or shortly after birth and were morphologically similar. These were characterized by a peculiar pattern of capillary proliferation with entrapment of native renal structures, variable amounts of extramedullary hematopoiesis and reactive lymphocytes, foci of infarction and hemorrhage, and the presence of feeding and draining vessels at their periphery. To our knowledge, this represents a previously undescribed congenital vascular lesion involving the kidney, which we have descriptively and provisionally termed congenital capillary proliferation of the kidney (CCPK). While it is unclear whether CCPK represents a malformation or neoplastic proliferation, it shows overlapping features with congenital hemangioma of the liver (solitary congenital hepatic hemangioma) and congenital nonprogressive hemangioma (CNH) of the skin and soft tissue, suggesting a possible common pathogenesis among these 3 entities. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Congenital seminal vesicle cyst and coexisting renal agenesis: laparoscopic approach.

    PubMed

    Liatsikos, Evangelos N; Lee, Benjamin; Filos, Kriton S; Barbalias, George A

    2004-03-01

    We report a case of laparoscopic excision of a large symptomatic left seminal vesicle cyst and ipsilateral renal agenesis. A 26-year-old man presented with a 15-year history of dysuria and irritative voiding symptoms. The diagnostic evaluation revealed a 62 x 40 x 35-mm left seminal vesicle cyst. In addition, he had a solitary, right, functioning kidney, with no evidence of the left renal unit. Transperitoneal laparoscopic excision of the cyst was performed successfully. The total operative time was 190 minutes, and blood loss was minimal. The patient was discharged from the hospital on the second postoperative day and did not present with any complaints or complications thereafter.

  6. Kidney Dysplasia

    MedlinePlus

    ... Disease Ectopic Kidney Medullary Sponge Kidney Kidney Dysplasia Kidney Dysplasia What is kidney dysplasia? Kidney dysplasia is a condition in which ... Kidney dysplasia in one kidney What are the kidneys and what do they do? The kidneys are ...

  7. A rare case of renal hydatidosis in a child with congenital solitary kidney.

    PubMed

    Tirnea, Livius; Minciu, Radu; Olariu, Tudor Rares; Dumitrascu, Victor; Neghina, Adriana Maria; Neghina, Raul

    2014-08-01

    Hydatid cyst of a solitary congenital kidney is a rare entity because of the small percentage of cases with renal hydatidosis and the reduced number of cases with this renal anomaly. We report a case presenting this extremely rare combination and having a favorable outcome. The diagnosis was confirmed based on an association of imagistic techniques and positive serology. The case was managed using a minimal invasive surgical technique (PAIR) that reduced the operative risks. Additionally, an antihelminthic agent (albendazole) was administered. To our knowledge, this is the first case with such comorbidity and treated through percutaneous approach.

  8. Medical management of congenital anomalies of the kidney and urinary tract.

    PubMed

    Hiraoka, Masahiro

    2003-10-01

    Renal damage in children has been found to be more congenital in origin than was previously thought. Congenital anomalies of the kidney and urinary tract (CAKUT) involve renal dysplasia, renal hypoplasia, urinary tract obstruction and vesicoureteral reflux. CAKUT are sometimes bilateral and different types often coexist. Depending on their types and severity, children with CAKUT often have varying degrees of a reduced number of nephrons at birth. CAKUTare now the leading cause of renal failure in children. Children with renal dysplasia or obstructive uropathy may have abnormal renal tubules, and tend to lose essential water and sodium in urine. This can lead to poor body growth unless they are supplemented with water and sodium. Children with severe ureteric reflux often develop urinary infection and renal scarring. Renal scarring can further increase the risk of renal failure in children who already have other CAKUTand fewer nephrons than normal. Hypertension and proteinuria may develop in children with renal dysplasia and further aggravate renal function unless they are treated. Recent advances in the understanding and management of CAKUT make it possible for children with CAKUT to grow normally, have fewer complications such as urinary infection, have longer renal survival, and survive even with end-stage renal diseases through renal replacement therapy.

  9. Cutting Balloon Angioplasty (CBA) for the Treatment of Renal Artery Fibromuscular Dysplasia (FMD) in Six Patients: 5-Year Long-Term Results.

    PubMed

    Cotroneo, Antonio Raffaele; Amoroso, Luigi; Giammarino, Alberto; Galasso, Daniele; Taglialatela, Francesco; Timpani, Carmine; Gabrielli, Daniela

    2017-04-01

    To evaluate long-term outcomes in terms of hypertension control, recurrent stenosis, and reinterventions from patients who underwent cutting balloon angioplasty (CBA) for symptomatic renal artery fibromuscular dysplasia (FMD). From 2011, six consecutive renal artery FMD women underwent CBA for poorly controlled hypertension, despite antihypertensive therapy. Follow-up consisted of blood pressure monitoring and duplex ultrasonography at 1, 6, and 12 months and thereafter annually for 5 years. All treatments were technically successful. Recurrence of hypertension was found in two patients within 12 months, and reinterventions were performed using CBA. Results show the efficacy of CBA for renal artery FMD.

  10. Congenital hip dysplasia treated by total hip arthroplasty using cementless tapered stem in patients younger than 50 years old: results after 12-years follow-up.

    PubMed

    Faldini, Cesare; Miscione, Maria Teresa; Chehrassan, Mohammadreza; Acri, Francesco; Pungetti, Camilla; d'Amato, Michele; Luciani, Deianira; Giannini, Sandro

    2011-12-01

    Congenital hip dysplasia may lead to severe acetabular and femoral abnormalities that can make total hip arthroplasty a challenging procedure. We assessed a series of patients affected by developmental hip dysplasia treated with total hip arthroplasty using cementless tapered stem and here we report the outcomes at long-term follow-up. Twenty-eight patients (24 women and 4 men) aged between 44 and 50 years (mean 47 years) were observed. Clinical evaluation was rated with the Harris Hip Score. Radiographic evaluation consisted in standard anteroposterior and axial view radiographs of the hip. According to Crowe's classification, 16 hips presented dysplasia grade 1, 14 grade 2, and 4 grade 3. All patients were treated with total hip arthroplasty using a cementless tapered stem (Wagner Cone Prosthesis). Six patients were operated bilaterally, with a totally of 34 hips operated. After surgery, the patients were clinically and radiographically checked at 3, 6, and 12 months and yearly thereafter until an average follow-up of 12 years (range 10-14 years). Average Harris Hip Score was 56 ± 9 (range 45-69) preoperatively, 90 ± 9 (range 81-100) 12 months after surgery, and 91 ± 8 (range 83-100) at last follow-up. Radiographic evaluation demonstrated excellent osteointegration of the implants. Signs of bone resorption were present in 6 hips, nevertheless no evidence of loosening was observed and none of the implants has been revised. Even in dysplasic femur, the tapered stem allowed adequate stability and orientation of the implant. We consider tapered stem a suitable option for total hip arthroplasty in developmental hip dysplasia, also in case of young patients, thanks to the favourable long-term results.

  11. [Prevalence of selected congenital anomalies in the Czech Republic: renal and cardiac anomalies and congenital chromosomal aberrations].

    PubMed

    Šípek, Antonín; Gregor, Vladimír; Horáček, Jiří; Šípek, Antonín; Langhammer, Pavel

    2013-09-01

    Analysis of the prevalence rates of selected diagnoses of congenital anomalies in the Czech Republic in 1994-2009. Retrospective epidemiological analysis of postnatal and total (including prenatally diagnosed cases) prevalence of congenital anomalies from the database of the National Registry of Congenital Anomalies of the Czech Republic. Data from the National Registry of Congenital Anomalies (NRCA) maintained by the Institute of Health Information and Statistics of the Czech Republic (IHIS CR) were used. Data on congenital anomalies in general and selected types of congenital anomalies were analyzed for the entire Czech Republic from 1994-2009. Additional data on prenatally diagnosed anomalies were obtained from medical genetics centres in the Czech Republic thanks to voluntary cooperation. This study analyzed postnatal and overall prevalence of congenital anomalies, with the latter including results of positive prenatal diagnosis. More detailed analysis was carried out for the following diagnoses: cystic kidney disease, renal agenesis/hypoplasia, tetralogy of Fallot, large vessel transposition, left heart hypoplasia, aortic coarctation, Down syndrome, Edward syndrome, and Patau syndrome. Cystic kidney disease showed a significant increase in 1999 and 2000, mainly due to postnatally diagnosed cases. This can be explained, on the one hand, by the modification made to the reporting of congenital anomalies in the Czech Republic and, on the other hand, by an earlier and more complete detection of postnatal cases. Since 2000, there has been a significant increase in reported cystic kidney disease as a result of postnatal kidney screening. In 1994-1999, the prevalence rates of this diagnosis ranged from 1.7 to 3.1 per 10,000 live births. Similar trend is seen in the prevalence of renal agenesis/hypoplasia. In the monitored period, prenatally diagnosed cases showed a slight increase while postnatally diagnosed cases showed a considerable rise. In 1994-1999, the

  12. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

    PubMed

    Borochowitz, Z; Langer, L O; Gruber, H E; Lachman, R; Katznelson, M B; Rimoin, D L

    1993-02-01

    We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

  13. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

    PubMed Central

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel–Joubert, short rib, Bardet–Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

  14. Use of renal near-infrared spectroscopy measurements in congenital diaphragmatic hernia patients on ECMO.

    PubMed

    Lau, Patricio E; Cruz, Stephanie; Garcia-Prats, Joseph; Cuevas, Milenka; Rhee, Christopher; Cass, Darrell L; Horne, Sarah E; Lee, Timothy C; Welty, Stephen E; Olutoye, Oluyinka O

    2017-05-01

    This study tests the hypothesis that renal tissue oxygen saturation as measured by Near Infrared Spectroscopy (NIRS) would correlate with urine output in neonates with congenital diaphragmatic hernia (CDH) on extracorporeal membrane oxygenation (ECMO). Between 2012 and 2015, neonates with CDH were enrolled as part of a comprehensive study that provided renal/cerebral/abdominal NIRS monitoring for the duration of ECMO support. Continuous NIRS measurements, mean arterial pressure, and urine output were recorded. Periods of anuria (NU), adequate urine output >1ml/kg/h (AU), and low urine output <1ml/kg/h (LU) were noted and analyzed. Over 1500h of continuous renal NIRS were obtained from six neonates. NIRS values were significantly different during periods of AU, LU, and anuria (84±6%, 76±3%, and 67±6%, p<0.01). ROC curves identified NIRS >76% as highly predictive of adequate urine output (AUC=0.96). MAP was significantly lower only in anuric patients, 36.42±10.26, compared to patients with AU and LU - 42.99±5.25 and 42.85±7.4, respectively (p<0.001). Renal NIRS measurements correlate with urine production. Lower values are noted as urine output declines and precedes a decline in MAP. Renal NIRS may have promise as a non-invasive means of determining adequacy of renal perfusion and urine output in neonates with complex fluid shifts. IIb. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. Novel Allelic Variants in the Canine Cyclooxgenase-2 (Cox-2) Promoter Are Associated with Renal Dysplasia in Dogs

    PubMed Central

    Whiteley, Mary H.; Bell, Jerold S.; Rothman, Debby A.

    2011-01-01

    Renal dysplasia (RD) in dogs is a complex disease with a highly variable phenotype and mode of inheritance that does not follow a simple Mendelian pattern. Cox-2 (Cyclooxgenase-2) deficient mice have renal abnormalities and a pathology that has striking similarities to RD in dogs suggesting to us that mutations in the Cox-2 gene could be the cause of RD in dogs. Our data supports this hypothesis. Sequencing of the canine Cox-2 gene was done from clinically affected and normal dogs. Although no changes were detected in the Cox-2 coding region, small insertions and deletions of GC boxes just upstream of the ATG translation start site were found. These sequences are putative SP1 transcription factor binding sites that may represent important cis-acting DNA regulatory elements that govern the expression of Cox-2. A pedigree study of a family of Lhasa apsos revealed an important statistical correlation of these mutant alleles with the disease. We examined an additional 22 clinical cases from various breeds. Regardless of the breed or severity of disease, all of these had one or two copies of the Cox-2 allelic variants. We suggest that the unusual inheritance pattern of RD is due to these alleles, either by changing the pattern of expression of Cox-2 or making Cox-2 levels susceptible to influences of other genes or environmental factors that play an unknown but important role in the development of RD in dogs. PMID:21346820

  16. A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

    PubMed

    Nanba, Kazutaka; Usui, Takeshi; Nakamura, Michikazu; Toyota, Yuko; Hirota, Keisho; Tamanaha, Tamiko; Kawashima, Sachiko-Tsukamoto; Nakao, Kanako; Yuno, Akiko; Tagami, Tetsuya; Naruse, Mitsuhide; Shimatsu, Akira

    2013-01-01

    Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed. Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome. We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.

  17. Congenital renal anomaly: evaluation with 99mTc-dimercaptosuccinic acid renal scintigraphy.

    PubMed

    Hosokawa, S; Kawamura, J; Tomoyoshi, T; Yoshida, O

    1983-05-01

    Technetium 99m-2,3, dimercaptosuccinic acid (99mTc-DMSA) preferentially accumulates in the renal cortex, demonstrating functioning cortical mass. We used 99mTc-DMSA renal scintigraphy in ten patients with horseshoe kidneys and five patients with unilateral fused kidneys. The results show that 99mTc-DMSA renal scintigraphy reliably establishes the diagnosis of horseshoe kidney and clearly shows the isthmus, which is very essential for proper management. The technique also aids in the definitive assessment of separate kidney function and of total radionuclide uptake is possible using 99mTc-DMSA scintigraphy.

  18. Congenital renal anomaly: evaluation with 99mTc-dimercaptosuccinic acid renal scintigraphy

    SciTech Connect

    Hosokawa, S.; Kawamura, J.; Tomoyoshi, T.; Yoshida, O.

    1983-05-01

    Technetium 99m-2,3, dimercaptosuccinic acid (99mTc-DMSA) preferentially accumulates in the renal cortex, demonstrating functioning cortical mass. We used 99mTc-DMSA renal scintigraphy in ten patients with horseshoe kidneys and five patients with unilateral fused kidneys. The results show that 99mTc-DMSA renal scintigraphy reliably establishes the diagnosis of horseshoe kidney and clearly shows the isthmus, which is very essential for proper management. The technique also aids in the definitive assessment of separate kidney function and of total radionuclide uptake is possible using 99mTc-DMSA scintigraphy.

  19. Association of smoking with phenotype at diagnosis and vascular interventions in patients with renal artery fibromuscular dysplasia.

    PubMed

    Savard, Sébastien; Azarine, Arshid; Jeunemaitre, Xavier; Azizi, Michel; Plouin, Pierre-François; Steichen, Olivier

    2013-06-01

    The pathogenesis of fibromuscular dysplasia (FMD) remains unclear, but tobacco use is thought to be involved. This retrospective cross-sectional study aimed to evaluate smoking first as a risk factor for renal artery FMD diagnosis and second as a modifier of the clinical and radiological phenotype of this disease. We retrieved 337 adult patients diagnosed with FMD in a referral center for hypertension management, who were first individually matched to controls with essential hypertension for sex, age, systolic blood pressure, number of antihypertensive drugs, and year of visit. Smoking status and other relevant data were collected at first visit. The proportion of current smokers was higher for patients with FMD than for the controls (30% and 18%, respectively, P<0.001; odds ratio, 2.5 [95% confidence interval, 1.6-3.9]). Second, characteristics of FMD were compared between current smokers and other patients. Among patients with multifocal FMD, current smokers experienced an earlier diagnosis of hypertension (36 versus 42 years, respectively; P<0.001) and FMD (43 versus 51 years; P<0.001) than other patients, and a greater likelihood of renal artery interventions (57% versus 31%; P<0.001) and of kidney asymmetry (21% versus 4%; P=0.001). In conclusion, current smoking is associated with a higher likelihood of renal artery FMD diagnosis. Rather than a higher incidence of FMD, this may reflect a more aggressive course in smokers, who have earlier hypertension leading to increased and earlier recognition of the disease. Smoking cessation should be strongly encouraged in patients with FMD.

  20. The urological evaluation and management of patients with congenital lower urinary tract anomalies prior to renal transplantation.

    PubMed

    Marshall, F F; Smolev, J K; Spees, E K; Jeffs, R D; Burdick, J F

    1982-06-01

    Previously, patients with chronic renal failure and major congenital anomalies of the lower urinary tract (often with urinary diversion) were thought to be poor candidates for renal transplantation. Pre-transplant evaluation and possible urinary reconstruction are essential in these patients to achieve successful renal transplantation. Ten patients, including 7 adults, presented with congenital anomalies of the lower urinary tract that were responsible for renal failure. Percutaneous suprapubic cystostomy aided in the assessment of bladder function. Undiagnosed posterior urethral valves were found in 2 adults. Patients with exstrophy, neurogenic bladder or a contracted bladder (with augmentation cystoplasty) had urinary drainage into the bladder at the time of renal transplantation. Sometimes an imperfect bladder can be used for urinary drainage with transplantation but, otherwise, intestinal conduits are still a viable alternative.

  1. Genomic and epigenomic analyses of monozygotic twins discordant for congenital renal agenesis.

    PubMed

    Jin, Meiling; Zhu, Shida; Hu, Panpan; Liu, Dongbing; Li, Qinggang; Li, Zuoxiang; Zhang, Xueguang; Xie, Yuansheng; Chen, Xiangmei

    2014-07-01

    Monozygotic twins have been widely studied to distinguish genetic and environmental factors in the pathogenesis of human diseases. For renal agenesis, the one-sided absence of renal tissue, the relative contributions of genetic and environmental factors to its pathogenesis are still unclear. In this study of a pair of monozygotic twins discordant for congenital renal agenesis, the genomic profile was analyzed from a set of blood samples using high-throughput exome-capture sequencing to detect single-nucleotide polymorphisms (SNPs), copy number variations (CNVs), and insertions and deletions (indels). Also, an epigenomic analysis used reduced-representation bisulfite sequencing to detect differentially methylated regions (DMRs). No discordant SNPs, CNVs, or indels were confirmed, but 514 DMRs were detected. KEGG analysis indicated the DMRs localized to 10 signaling pathways and 25 genes, including the mitogen-activated protein kinase pathway and 6 genes (FGF18, FGF12, PDGFRA, MAPK11, AMH, CTBP1) involved in organ development. Although methylation results from our adult patient and her sister may not represent the pattern that was present during kidney development, we could at least confirm a lack of obvious differences at the genome level, which suggests that nongenetic factors may be involved in the pathogenesis of renal agenesis.

  2. Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment.

    PubMed

    Shimizu, Yoshio; Kamoda, Tomohiro; Nagata, Michio; Yoh, Keigyo; Hashimoto, Yuko; Matsui, Akira; Yoshikawa, Hiroyuki; Yamagata, Kunihiro; Koyama, Akio

    2009-01-01

    We report a successful case of pregnancy in a female patient with congenital chloride diarrhea (CLD) and reduced renal function due to interruption of treatment. CLD is an autosomal recessive disorder of intestinal electrolyte absorption caused by mutations in the solute carrier family 26, member 3 (SLC26A3) gene, and continuous production of watery diarrhea induces dehydration, metabolic alkalosis and many kinds of electrolyte disturbances in CLD patients. The patient in our case was a 24-year-old female CLD patient with moderate renal impairment; a renal biopsy specimen showed minimal glomerular changes, but tubulointerstitial damage by crystal formation, consistent with renal function data. One year after our initial examination and reinstitution of therapy, the patient got married and soon conceived. There were no major problems during the course of pregnancy, and the patient successfully delivered a healthy full-term infant vaginally. The symptoms and clinical course of the patient were particularly mild, and we discuss possible reasons for these observations from a perspective of genotype, phenotype and environmental conditions.

  3. Is fibromuscular dysplasia underdiagnosed? A comparison of the prevalence of FMD seen in CORAL trial participants versus a single institution population of renal donor candidates.

    PubMed

    Hendricks, Nicholas J; Matsumoto, Alan H; Angle, John F; Baheti, Aparna; Sabri, Saher S; Park, Auh W; Stone, James R; Patrie, James T; Dworkin, Lance; Cooper, Christopher J; Murphy, Timothy P; Cutlip, Donald E

    2014-10-01

    Renal artery fibromuscular dysplasia (FMD) may be underdiagnosed. We evaluated the prevalence of FMD in CORAL (Cardiovascular Outcomes in Renal Atherosclerotic Lesions) renal artery stent trial participants, in which FMD was an exclusion criterion for inclusion. We also evaluated the prevalence of FMD in a relatively healthy population of patients undergoing computed tomographic angiographic (CTA) screening for renal donor evaluation. All renal donor CTAs performed at our institution from January 2003 through November 2011 were retrospectively reviewed for the presence of FMD along with patient sex and age. These results were compared to angiographic core lab (ACL) findings for the CORAL trial. The CORAL ACL database contained 997 patients (mean age 69.3 years; 50% female). Fifty-eight (5.8%) CORAL trial patients (mean age 71.8 years; 75.9% female) demonstrated incidental FMD. The renal donor cohort included 220 patients (mean age 40.5 years; 64.5% female). Five (2.3%) demonstrated FMD (mean age 48.6 years; all female). The odds of FMD in the CORAL cohort were 2.65 times that seen in the renal donor cohort (95% CI: 1.12, 7.57). In C: onclusion, the 5.8% prevalence of renal artery FMD in the CORAL trial population, the presence of which was biased against, suggests underdiagnosis. © The Author(s) 2014.

  4. Use of the translabyrinthine approach to repair congenital spontaneous cerebrospinal fluid leakage in five Chinese patients with Mondini dysplasia.

    PubMed

    Yi, H J; Guo, H; Ch, W; Yang, S M; Liu, P N

    2013-12-01

    To introduce a more effective surgical technique for the repair of spontaneous incurable cerebrospinal fluid (CSF) leakage (CSF otorrhea). The cases of five Chinese patients with Mondini dysplasia and CSF leakage were reviewed. All patients presented with rhinorrhea or otorrhea from childhood and recurrent meningitis attacks. CSF leakage was repaired surgically using the translabyrinthine approach. Facial paralysis occurred in the first two patients, but was cured 2 months later. The other three patients recovered well and had no facial paralysis or complication. CSF leakage did not recur in any patient after follow-up periods of 0.5-3 years. Mondini dysplasia with CSF leakage is rare. Adequate diagnosis and treatment are required to avoid life-threatening complications, such as meningitis. We recommend the translabyrinthine approach as an alternative surgical technique that reduces recurrence. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  5. Responses of proximal tubular cells to injury in congenital renal disease: fight or flight.

    PubMed

    Chevalier, Robert L; Forbes, Michael S; Galarreta, Carolina I; Thornhill, Barbara A

    2014-04-01

    Most chronic kidney disease in children results from congenital or inherited disorders, which can be studied in mouse models. Following 2 weeks of unilateral ureteral obstruction (UUO) in the adult mouse, nephron loss is due to proximal tubular mitochondrial injury and cell death. In neonatal mice, proximal tubular cell death is delayed beyond 2 weeks of complete UUO, and release of partial UUO allows remodeling of remaining nephrons. Progressive cyst expansion develops in polycystic kidney disease (PKD), a common inherited renal disorder. The polycystic kidney and fibrosis (pcy)-mutant mouse (which develops late-onset PKD) develops thinning of the glomerulotubular junction in parallel with growth of cysts in adulthood. Renal insufficiency in nephropathic cystinosis, a rare inherited renal disorder, results from progressive tubular cystine accumulation. In the Ctns knockout mouse (a model of cystinosis), proximal tubular cells become flattened, with loss of mitochondria and thickening of tubular basement membrane. In each model, persistent obstructive or metabolic stress leads ultimately to the formation of atubular glomeruli. The initial "fight" response (proximal tubular survival) switches to a "flight" response (proximal tubular cell death) with ongoing oxidative injury and mitochondrial damage. Therapies should be directed at reducing proximal tubular mitochondrial oxidative injury to enhance repair and regeneration.

  6. Congenital renal damage associated with primary vesicoureteral reflux detected prenatally in male infants.

    PubMed

    Marra, G; Barbieri, G; Dell'Agnola, C A; Caccamo, M L; Castellani, M R; Assael, B M

    1994-05-01

    To assess the course of vesicoureteral reflux, we performed cystography, renal scintigraphy, and urography in all neonates with the prenatal diagnosis of renal pelvic dilation and revealed the presence of primary reflux (grades I to V) in 27 cases. Higher grades of reflux were associated with congenital renal damage, as shown by reduced tracer uptake during scintigraphy. Reflux was diagnosed more frequently in male infants (male/female ratio, 6:1), in many of whom bladder abnormalities were found by cystography. In another group of seven infants, in whom the reflux was associated with other urologic abnormalities, there was no sex prevalence. We conclude that severe primary reflux associated with hydronephrosis usually affects male infants and may be due to abnormal embryologic development of the male urethra, and that the kidney damage is primary and not the result of urinary tract infections. This pattern differs from that of vesicoureteric reflux diagnosed at an older age, which is observed most commonly in female patients.

  7. Responses of Proximal Tubular Cells to Injury in Congenital Renal Disease: Fight or Flight

    PubMed Central

    Chevalier, Robert L.; Forbes, Michael S.; Galarreta, Carolina I.; Thornhill, Barbara A.

    2013-01-01

    Most chronic kidney disease in children results from congenital or inherited disorders, which can be studied in mouse models. Following 2 weeks of unilateral ureteral obstruction (UUO) in the adult mouse, nephron loss is due to proximal tubular mitochondrial injury and cell death. In neonatal mice, proximal tubular cell death is delayed beyond 2 weeks of complete UUO, and release of partial UUO allows remodeling of remaining nephrons. Progressive cyst expansion develops in polycystic kidney disease (PKD), a common inherited renal disorder. The PCY mutant mouse (which develops late-onset PKD) develops thinning of the glomerulotubular junction in parallel with growth of cysts in adulthood. Renal insufficiency in nephropathic cystinosis, a rare inherited renal disorder, results from progressive tubular cystine accumulation. In the Ctns knock out mouse (a model of cystinosis), proximal tubular cells become flattened, with loss of mitochondria and thickening of tubular basement membrane. In each model, persistent obstructive or metabolic stress leads ultimately to the formation of atubular glomeruli. The initial “fight” response (proximal tubular survival) switches to a “flight” response (proximal tubular cell death) with ongoing oxidative injury and mitochondrial damage. Therapies should be directed at reducing proximal tubular mitochondrial oxidative injury to enhance repair and regeneration. PMID:23949631

  8. Pharmacokinetic analysis of cyclosporine in a renal transplant recipient with congenital absence of the portal vein.

    PubMed

    Nakazawa, Ryuto; Sato, Yuichi; Sasaki, Hideo; Shibagaki, Yugo; Kimura, Kenjiro; Chikaraishi, Tatsuya

    2015-08-01

    Here we report therapeutic drug monitoring of cyclosporine in a kidney transplant recipient lacking enterohepatic circulation. The patient developed steroid-resistant nephrotic syndrome at age 14 years, and was medicated with an oral cyclosporine microemulsion. However, her cyclosporine trough level was unexpectedly elevated, and subsequent investigations showed that she was deficient in drug metabolism as a result of the congenital absence of the portal vein. Her renal function gradually decreased and she became dialysis-dependent at the age of 21 years, and kidney transplantation was planned. Based on pretransplant therapeutic drug monitoring, we started cyclosporine microemulsion at half of the conventional dosage. After transplantation, the dosage was successfully adjusted to achieve a target trough level. The post-transplant course was stable with no symptoms of rejection or cyclosporine-associated nephrotoxicity. © 2015 The Japanese Urological Association.

  9. Progression of renal fibrosis in congenital CKD model rats with reduced number of nephrons.

    PubMed

    Yasuda, Hidenori; Tochigi, Yuki; Katayama, Kentaro; Suzuki, Hiroetsu

    2017-02-06

    A congenital reduction in the number of nephrons is a critical risk factor for both onset of chronic kidney disease (CKD) and its progression to end-stage kidney disease (ESKD). Hypoplastic kidney (HPK) rats have only about 20% of the normal number of nephrons and show progressive CKD. This study used an immunohistological method to assess glomerular and interstitial pathogenesis in male HPK rats aged 35-210days. CD68 positive-macrophages were found to infiltrate into glomeruli in HPK rats aged 35 and 70days and to infiltrate into interstitial tissue in rats aged 140 and 210days. HPK rats aged 35 and 70days showed glomerular hypertrophy, loss of normal linear immunostaining of podocine, and increased expression of PDGFr-β, TGF-β, collagens, and fibronectin, with all of these alterations gradually deteriorating with age. α-SMA-positive myofibroblasts were rarely detected in glomerular tufts, whereas α-SMA-positive glomerular parietal epithelium (GPE) cells were frequently observed along Bowman's capsular walls. The numbers of PDGFr-β-positive fibroblasts in interstitial tissue were increased in rats aged 35days and older, whereas interstitial fibrosis, characterized by the increased expression of tubular PDGF-BB, the appearance of myofibroblasts doubly positive for PDGFr-β and α-SMA, and increased expression of collagens and fibronectin, were observed in rats aged 70 and older. These results clearly indicate that congenital CKD with only 20% of nephrons cause renal fibrosis in rats.

  10. A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.

    PubMed

    Eytan, O; Sarig, O; Israeli, S; Mevorah, B; Basel-Vanagaite, L; Sprecher, E

    2014-03-01

    Palmoplantar keratoderma punctata (PPKP) is a heterogeneous group of disorders characterized by hyperkeratotic papules occurring over the palms and soles during adolescence. PPKP type 1, also known as PPKP Buschke-Fischer-Brauer type, was recently found to result from mutations in the AAGAB gene, encoding the p34 protein. PPKP type 1 is usually not associated with extracutaneous features. To investigate a large family in which PPKP1 was present in association with congenital dysplasia of the hip (CDH). A combination of direct sequencing of candidate genes and reverse-transcription PCR was used to identify the molecular basis underlying the clinical features displayed by the patients. Direct sequencing showed a novel intronic mutation in AAGAB, which was found to cosegregate with PPKP and CDH throughout the family. The mutation was found to result in aberrant RNA splicing, leading to exon 4 skipping. This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development. © 2013 British Association of Dermatologists.

  11. Unilateral Congenital Lacrimal Fistula with Renal Agenesis and Pelvic Kidney: A Case Report and Review of the Literature

    PubMed Central

    Altun, A.; Kurna, S. A.; Sengor, T.; Altun, G.; Oflaz, A.; Sonmez, H. S.

    2015-01-01

    A 12-year-old boy presented to the clinic of ophthalmology because of watering and discharge from his left lower eyelid. The inspection examination revealed an orifice that was associated with congenital lacrimal fistula (CLF). He underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings. Systemic evaluation revealed multiple renal anomalies: right renal agenesis and left ectopic pelvic kidney. This case is unique because this is the first reported case of CLF accompanied with ectopic pelvic kidney in the literature. PMID:26090250

  12. Unilateral Congenital Lacrimal Fistula with Renal Agenesis and Pelvic Kidney: A Case Report and Review of the Literature.

    PubMed

    Altun, A; Kurna, S A; Sengor, T; Altun, G; Oflaz, A; Sonmez, H S

    2015-01-01

    A 12-year-old boy presented to the clinic of ophthalmology because of watering and discharge from his left lower eyelid. The inspection examination revealed an orifice that was associated with congenital lacrimal fistula (CLF). He underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings. Systemic evaluation revealed multiple renal anomalies: right renal agenesis and left ectopic pelvic kidney. This case is unique because this is the first reported case of CLF accompanied with ectopic pelvic kidney in the literature.

  13. Familial tetrasomy 4q35.2 associated with congenital diaphragmatic hernia and unilateral renal agenesis: a case report.

    PubMed

    Bogs, Thomas; Kipfmüller, Florian; Kohlschmidt, Nicolai; Gembruch, Ulrich; Müller, Andreas; Reutter, Heiko

    2016-03-30

    Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agenesis and left-sided, isolated congenital diaphragmatic hernia in his son, who inherited the chromosomal aberration from his father. Given that the aberration occurred de novo in the father and was transmitted to his son, with both presenting with unilateral left-sided developmental field defects, we suggest a gene dosage effect of the tetrasomic region to be involved in the phenotype of our two patients. Furthermore, we suggest performing a genetic workup in multiplex families with congenital malformations.

  14. Neonatal orchitis mimicking cystic dysplasia of the testis.

    PubMed

    Martin, George L; Cassell, Ian L S; deMello, Daphne E; Ritchey, Michael L

    2010-12-01

    Neonatal orchitis is an extremely rare disease, usually related to a congenital genitourinary anomaly. We present a 36 weeks' gestation infant who presented at 3 days old with a firm and enlarged right testicle. Testicular US revealed a heterogeneous right testicle with numerous cystic spaces as well as decreased testicular blood flow. The clinical concerns included testicular tumor and cystic dysplasia of the testis because of concurrent renal dysplasia. The scrotal/testicular area was without tenderness or overlying erythema. Radical inguinal orchiectomy revealed diffuse gram-negative orchitis.This case represents an atypical presentation of orchitis. This entity should be added to the differential diagnoses of testicular mass in the neonate even in the absence of physical findings suggestive of infection.

  15. Identical twins with lethal congenital pulmonary airway malformation type 0 (acinar dysplasia): further evidence of familial tendency.

    PubMed

    DeBoer, Emily M; Keene, Sarah; Winkler, Annne M; Shehata, Bahig M

    2012-08-01

    We report a case of identical twins with lethal congenital pulmonary airway malformation (CPAM) type 0. Twin A expired several hours after birth, and twin B was sustained by extra-corporeal membrane oxygenation (ECMO) support; however, care was withdrawn from twin B following the autopsy of twin A, which revealed a diagnosis of CPAM type 0. Both twins showed pulmonary hypoplasia, histologically consistent with CPAM type 0 and pulmonary hypertension. Furthermore, the family also had a previous male who presented with pulmonary hypoplasia and respiratory failure and died shortly after birth; however, no autopsy was performed to confirm a diagnosis of CPAM. Here, in discussing our case, as well as previously reported cases, we demonstrate CPAM type 0's high prevalence among females (9:1 ratio). From the reported cases, it appears that CPAM type 0's tendency to recur in families is up to 40%, suggesting an autosomal recessive inheritance pattern. However, the actual tendency of familial recurrence is hard to assess due to the rarity of the disease and the potential lack of reporting CPAM type 0 cases. To our knowledge, our report represents the first description of CPAM type 0 in identical twins.

  16. [Prevalence of hyperechoic renal pyramid syndrome in neonates and infants with congenital heart disease--ultrasound study of the abdominal cavity in the years 1996-2000].

    PubMed

    Czarniak, Piotr; Kosiak, Wojciech; Chojnicki, Maciej; Maternik, Michał; Zurowska, Aleksandra; Ereciński, Jan

    2005-01-01

    The normal medullary pyramids both in children and in adults are non-echoic on ultrasound evaluation when compared with renal cortex. Hyperechoic pyramids are associated with abnormal function of renal tubules. This sonographic finding has been described in various diseases including transient renal insufficiency in neonates and hypercalciuria induced by long-term furosemide therapy. The aim of this study was to evaluate the occurrence of hyperechoic pyramids in neonates and infants with congenital heart diseases. The examined population consisted of 350 neonates and infants (187 male - 53%, 163 female - 47%), mean age 54,9 +/- 75,7 days (range 1 - 349 days) with new recognized congenital heart disease. All renal sonographic evaluations were performed from January 1st 1996 to December 31st 2000. A total of 19 (5.5%) neonates had increased echogenicity of the renal medullary pyramids. Almost 2/3 of cases were diagnosed in neonates with cyanotic congenital heart diseases. In infants with congenital heart disease hyperechoic pyramids were found in 5 (1.4%) cases. 1. In our study was shown, that the main reason of hyperechoic pyramids syndrome was neonatal asphyxia in association with cyanotic congenital heart disease. 2. Further nephrological evaluation is necessary in all case of hyperechoic pyramids syndrome. 3. Ultrasound examination of urinary tract should be an integral part of a complex evaluation of a patient with congenital heart disease.

  17. Closed reduction for congenital dysplasia of the hip. Functional and radiographic results after an average of thirty years.

    PubMed

    Malvitz, T A; Weinstein, S L

    1994-12-01

    The functional and radiographic results of closed reduction in 152 congenitally dislocated hips of 119 patients who had been managed between 1938 and 1969 were reviewed retrospectively. The average age of the patients at the time of the reduction was twenty-one months (range, one to ninety-six months). At the time of the latest follow-up evaluation, the average age was thirty-one years (range, sixteen to fifty-six years). The average duration of follow-up was thirty years (range, fifteen to fifty-three years). At the latest follow-up evaluation, the Iowa hip rating averaged 91 points (range, 38 to 100 points) and the Harris hip score averaged 90 points (range, 33 to 100 points). Thirty-five hips were rated Severin Class I; thirty-five, Class II; twenty-eight, Class III; fifty-three, Class IV; and one, Class VI. Disturbance of growth in the proximal end of the femur occurred in ninety-one hips (60 per cent). Eight contralateral hips that had appeared normal also demonstrated disturbance of proximal femoral growth. In many hips, partial physeal arrest could not be determined for ten to twelve years after the reduction. Seventeen hips (twelve patients) had a total replacement when the patients were an average age of thirty-six years (range, nineteen to fifty-three years). Sixty-five hips (43 per cent) had radiographic evidence of degenerative joint disease. Patients who did not have a growth disturbance of the proximal end of the femur or evidence of subluxation tended to function extremely well for many years despite a radiographic result that was less than anatomical. Function tended to deteriorate with time, even in the absence of disturbance of growth in the proximal end of the femur. Despite generally good function at the latest follow-up evaluation, the prognosis for these patients remained guarded.

  18. Renal tract malformations: perspectives for nephrologists.

    PubMed

    Kerecuk, Larissa; Schreuder, Michiel F; Woolf, Adrian S

    2008-06-01

    Renal tract malformations are congenital anomalies of the kidneys and/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dysplasia, although rare, lead to renal failure. With advances in dialysis and transplantation for young children, it is now possible to prevent the early death of at least some individuals with severe malformations. Other renal tract malformations, such as congenital pelviureteric junction obstruction and primary vesicoureteric reflux, are relatively common. Renal tract malformations are, collectively, the major cause of childhood end-stage renal disease. Their contribution to the number of adults on renal replacement therapy is less clear and has possibly been underestimated. Renal tract malformations can be familial, and specific mutations of genes involved in renal tract development can sometimes be found in affected individuals. These features provide information about the causes of malformations but also raise questions about whether to screen relatives. Whether prenatal decompression of obstructed renal tracts, or postnatal initiation of therapies such as prophylactic antibiotics or angiotensin blockade, improve long-term renal outcomes remains unclear.

  19. Limb malformations with associated congenital constriction rings in two unrelated Egyptian males, one with a disorganization-like spectrum and the other with a probable distinct type of septo-optic dysplasia.

    PubMed

    Temtamy, Samia A; Aglan, Mona S; Ashour, Adel M; El-Badry, Tarek H

    2010-01-01

    In this report, we describe two unrelated Egyptian male infants with limb malformations and constriction rings. The first case is developing normally but has severe limb anomalies, congenital constriction rings, scoliosis because of vertebral anomalies, a left accessory nipple, a small tumor-like swelling on his lower back with tiny skin tubular appendages, a hypoplastic scrotum, and an anchored penis. The second case is developmentally delayed with limb malformations, congenital constriction rings, a lumbar myelomeningeocele, hemangioma, and tiny tubular skin appendages on the back. The patient also had bilateral optic atrophy. The constellation of features in our patients cannot be fully explained by the amniotic disruption complex. The first patient may represent an additional case of the human homolog of the mouse disorganization mutant. The presence of bilateral optic atrophy in the second case, although without an absent septum pellucidum nor other brain anomalies resembles the infrequently reported disorder of septo-optic dysplasia with limb anomalies. Both cases were sporadic and could be caused by a new dominant mutation because of the high paternal age of case 1 and the history of paternal occupational exposure to heat for both fathers. We draw attention to the phenotypic overlap between the disorganization-like syndrome and septo-optic dysplasia with limb anomalies.

  20. Allelic variation in the canine Cox-2 promoter causes hypermethylation of the canine Cox-2 promoter in clinical cases of renal dysplasia

    PubMed Central

    2014-01-01

    Background Novel allelic variants in the promoter of the canine cyclooxygenase-2 (Cox-2) gene are associated with renal dysplasia (RD). These variants consist of either deletions of putative SP1 transcription factor-binding sites or insertions of tandem repeats of SP1-binding sites located in the CpG island just upstream of the ATG translation initiation site. The canine Cox-2 gene was studied because Cox-2-deficient mice have renal abnormalities and a pathology that is strikingly similar to RD in dogs. Findings The allelic variants were associated with hypermethylation of the Cox-2 promoter only in clinical cases of RD. The wild-type allele was never methylated, even in clinical cases that were heterozygous for a mutant allele. In cases that were biopsy-negative, the promoter remained unmethylated, regardless of the genotype. Methylated DNA was found in DNA from various adult tissues of dogs with clinical RD. Conclusions The mechanism of action of the allelic variation in the canine Cox-2 promoter most likely involves variation in the extent of epigenetic downregulation of this gene. This epigenetic downregulation must have occurred early in development because methylated Cox-2 promoter DNA sequences are found in various adult tissues. PMID:24708682

  1. Technical and Clinical Results After Percutaneous Angioplasty in Nonmedial Fibromuscular Dysplasia: Outcome After Endovascular Management of Unifocal Renal Artery Stenoses in 30 Patients

    SciTech Connect

    Barrier, Pierre Julien, Auriol; Guillaume, Canevet; Philippe, Otal; Herve, Rousseau; Francis, Joffre

    2010-04-15

    Although percutaneous transluminal renal angioplasty (PTRA) is associated with excellent results in medial fibromuscular dysplasia (FMD), the clinical and technical outcome in the less common nonmedial subtype of FMD is not clearly known. Angiographic PTRA results and clinical follow-up were documented, to report technical and clinical results in 30 patients with unifocal, nonmedial dysplastic stenoses. Balloon angioplasty was technically successful in only 65% of the lesions. Additional stenting, performed after PTRA failure in six patients, increased the initial technical success rate to 82%. Stenting was used in another lesion after restenosis, and long-term patency was achieved in only three of the seven stented lesions. Frequent restenoses and unusual complications were observed during follow-up. Stent fracture occurred in two cases. Overall, long-term clinical and technical successes were sustained in 70 and 76%, respectively. We conclude that nonmedial, unifocal renal artery dysplastic stenoses do not share the excellent prognosis of the medial type and that stenting should be avoided. Therefore, surgery should be considered in lesions remaining unresponsive to balloon dilatation, after a second PTRA attempt.

  2. Chondroectodermal Dysplasia: A Rare Syndrome

    PubMed Central

    Tahririan, Dana; Eshghi, Alireza; Givehchian, Pirooz; Tahririan, Mohammad Ali

    2014-01-01

    Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities. PMID:25628672

  3. Very Long Segment Congenital Thoracoabdominal Aortic Coarctation (Diffuse Aortic Dysplasia) with Infrarenal Aortobi-Iliac and Cavobi-Iliac Aplasia in a 30-Year-Old Patient.

    PubMed

    Mamopoulos, Apostolos; Luther, Bernd

    2015-10-01

    Congenital dysplastic aortic syndromes range from coarctation at the aortic isthmus to more extended aortic disease (midaortic syndrome). The latter is usually restricted to dysplastic aortic segments of up to 15 cm. Long segment dysplasia of the entire abdominal or thoracic aorta is extremely rare. This case of a 30-year-old patient with a very long segment congenital thoracoabdominal aortic coarctation and infrarenal aortobi-iliac and cavobi-iliac aplasia represents to our knowledge the most extended congenital vascular malformation in a surviving adult patient. The developed extensive collateral pathways ensured the survival of the patient, so that the main clinical manifestation was a refractory hypertension. Because of the extent of the disease, open surgery represented the only viable option. Interestingly, after 30 years of uncontrollable hypertension, the patient's blood pressure promptly responded to surgical treatment. A concomitant infrarenal aplasia of both the aorta and cava vein is also very unusual and points to a major developmental deficit during vascular embryogenesis.

  4. Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis.

    PubMed

    Tyagi, Vineet; Bornstein, Eran; Schacht, Robert; Lala, Shailee; Milla, Sarah

    2016-10-01

    Tuberous sclerosis (TS) is an autosomal dominant condition associated with mutations in the TSC1 and/or TSC2 genes. Clinical manifestations are multisystemic, and they often include lesions in the brain, skin, heart, kidneys, and bones. TSC2 gene mutations can be seen concomitantly with autosomal dominant polycystic kidney disease gene mutations. We present a case of a fetus with prenatal diagnosis of TS that had unique asymmetrical distribution of renal cystic disease. We describe the extensive work up with both fetal and neonatal magnetic resonance imaging with correlating images of the unilateral polycystic renal disease in addition to typical TS brain findings.

  5. Potential Usefulness of 99mTc-DMSA for Radio-Guided Surgery in Pediatric Renal Dysplasia.

    PubMed

    Familiari, Demetrio; Di Franco, Davide; Cacciaguerra, Sebastiano; Ruggeri, Antonella; Russo, Simona; Fornito, Maria Concetta

    2016-02-01

    We report a case of an ectopic/hypoplastic kidney removed by radio-guided surgery. A 7-year-old girl, with a history of vaginal drainage of urine, underwent renal scintigraphy with Tc-DMSA. SPECT/CT revealed a focal uptake in the pelvis, corresponding to hypoplastic kidney as confirmed by MRI. Based on SPECT/CT findings, the patient underwent laparoscopic surgery, using Tc-DMSA scan to help the surgeon to detect the small ectopic kidney. Intraoperatory histological report confirmed the renal origin of the specimen.

  6. Renal replacement therapy after repair of congenital heart disease in children. A comparison of hemofiltration and peritoneal dialysis.

    PubMed

    Fleming, F; Bohn, D; Edwards, H; Cox, P; Geary, D; McCrindle, B W; Williams, W G

    1995-02-01

    The development of renal failure necessitating peritoneal dialysis after cardiac operations is associated with a reported mortality greater than 50%. Improved fluid removal and nutritional support have been reported with the use of continuous arteriovenous hemofiltration and continuous venovenous hemofiltration techniques. We have compared our experience with all three techniques in managing children who required renal replacement therapy after cardiac operations in terms of efficacy (fluid removal, calorie intake, and clearance of urea and creatinine), complications, and outcome. Over a 5-year period renal replacement therapy was initiated in 42 children, and in 34 of them it was successfully established for more than a 24-hour period: 17 were managed with peritoneal dialysis, 8 with continuous arteriovenous hemofiltration, and 9 with continuous venovenous hemofiltration. A net negative fluid balance was achieved in only 6 (35%) patients treated with peritoneal dialysis compared with 50% of those treated with continuous venovenous hemofiltration and 89% of those treated with continuous venovenous hemofiltration. In terms of nutritional support, calorie intake increased by 43% after peritoneal dialysis was started compared with 515% and 409% in the arteriovenous and venovenous hemofiltration groups, respectively, (p < 0.005). The serum urea levels fell by 36% (p = 0.02) and 39% (p = 0.005) compared with pre-therapy levels with arteriovenous and venovenous hemofiltration, respectively, and the creatinine content was reduced by 19% and 33% (p = 0.003). Neither parameter was reduced in the peritoneal dialysis group. We conclude that the use of hemofiltration as a renal replacement therapy after surgical correction of congenital heart disease offers significant advantages over the more traditional approach of peritoneal dialysis. In addition, we suggest that a more aggressive approach to the management of fluid overload and nutritional depletion with hemofiltration may

  7. Occult Congenital Ureteropelvic Junction Obstruction in Two Adults Presenting with Collecting System Rupture After Blunt Renal Trauma: A Case Report Series

    PubMed Central

    Hoffner, Haley E.; Dagrosa, Lawrence M.; Pais, Vernon M.

    2015-01-01

    Abstract We report two adult cases of congenital ureteropelvic junction obstruction detected incidentally in the setting of blunt abdominal trauma. CT images are provided to describe the presentation, while review of the literature and management of renal trauma are discussed. PMID:27579396

  8. Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR).

    PubMed

    Sheehan-Rooney, Kelly; Swartz, Mary E; Zhao, Feng; Liu, Dong; Eberhart, Johann K

    2013-09-01

    The severity of most human birth defects is highly variable. Our ability to diagnose, treat and prevent defects relies on our understanding of this variability. Mutation of the transcription factor GATA3 in humans causes the highly variable hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome. Although named for a triad of defects, individuals with HDR can also exhibit craniofacial defects. Through a forward genetic screen for craniofacial mutants, we isolated a zebrafish mutant in which the first cysteine of the second zinc finger of Gata3 is mutated. Because mutation of the homologous cysteine causes HDR in humans, these zebrafish mutants could be a quick and effective animal model for understanding the role of gata3 in the HDR disease spectrum. We demonstrate that, unexpectedly, the chaperone proteins Ahsa1 and Hsp90 promote severe craniofacial phenotypes in our zebrafish model of HDR syndrome. The strengths of the zebrafish system, including rapid development, genetic tractability and live imaging, make this an important model for variability.

  9. Congenital solitary kidney with renovascular hypertension diagnosed by means of captopril-enhanced renography and magnetic resonance angiography.

    PubMed

    Hayashida, Mie; Watanabe, Noboru; Imamura, Hiroshi; Kumazaki, Setsuo; Kitabayashi, Hiroshi; Takahashi, Wataru; Uchikawa, Shin-Ichiro; Yazaki, Yoshikazu; Kubo, Keishi

    2005-03-01

    A 24 year-old woman had a congenital solitary kidney with renovascular hypertension due to fibromuscular dysplasia. She had been treated as having essential hypertension until she developed preeclampsia and HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome at 28 weeks of gestation. Plasma renin activity and captopril test results did not indicate any abnormalities. However, renography revealed captopril-induced deterioration. Magnetic resonance angiography was also useful to detect renal artery stenosis. These findings were confirmed by renal angiography. After successful percutaneous transluminal renal angioplasty, her blood pressure and the pattern of captopril renography normalized.

  10. Fibromuscular Dysplasia

    MedlinePlus

    ... for this author on this site Article Figures & Tables Info & Metrics eLetters Jump to Article What Is ... Are Available for Patients With FMD? Disclosures Figures & Tables Info & Metrics eLetters fibromuscular dysplasia patient education peripheral ...

  11. Pulmonary arterial hypertension associated with bronchopulmonary dysplasia and congenital heart disease in preterm infants. A case report of a preterm infant with recurrent pulmonary hypertension after corrective cardiac surgery and review of the literature.

    PubMed

    Muneuchi, Jun; Kuraoka, Ayako; Watanabe, Mamie; Ochiai, Yoshie; Joo, Kunitaka

    2015-01-01

    In preterm infants with congenital heart disease, concomitant bronchopulmonary dysplasia (BPD) is associated with relatively poor clinical outcomes because of the increased pulmonary vascular resistance and adverse effects of inflammation on the damaged lungs, even after surgery. We present herein a 1-year-old female who developed recurrent pulmonary arterial hypertension 6 months after closure of a ventricular septal defect. She was born at 26 weeks of gestation (birth weight, 470 g), and developed BPD requiring oxygen supplementation. Her systemic-to-pulmonary blood flow ratio was 2.1 preoperatively and 1.0 postoperatively, pulmonary arterial pressure was 61/15 (mean 39) mmHg preoperatively and 41/17 (mean 24) mmHg postoperatively, and pulmonary vascular resistance was 4.2 mmHg/L·minute·m(2) preoperatively and 3.6 mmHg/L·minute·m(2) postoperatively. At 1 year of age, echocardiography showed an increase in her estimated right ventricular pressure, indicating worsening pulmonary hypertension. After 3 years of treatment with oxygen supplementation, prostacyclin, and bosentan, her pulmonary arterial pressure improved to the normal range. The pathophysiology of pulmonary arterial hypertension is heterogeneous in preterm infants with congenital heart disease and concomitant BPD. Careful management of these patients is warranted even after corrective cardiac surgery.

  12. Dysplasia of the contralateral hip in patients with unilateral late-detected congenital dislocation of the hip: 50 years' follow-up of 48 patients.

    PubMed

    Terjesen, T

    2014-09-01

    The aim of this study was to investigate the incidence of dysplasia in the 'normal' contralateral hip in patients with unilateral developmental dislocation of the hip (DDH) and to evaluate the long-term prognosis of such hips. A total of 48 patients (40 girls and eight boys) were treated for late-detected unilateral DDH between 1958 and 1962. After preliminary skin traction, closed reduction was achieved at a mean age of 17.8 months (4 to 65) in all except one patient who needed open reduction. In 25 patients early derotation femoral osteotomy of the contralateral hip had been undertaken within three years of reduction, and later surgery in ten patients. Radiographs taken during childhood and adulthood were reviewed. The mean age of the patients was 50.9 years (43 to 55) at the time of the latest radiological review. In all, eight patients (17%) developed dysplasia of the contralateral hip, defined as a centre-edge (CE) angle < 20° during childhood or at skeletal maturity. Six of these patients underwent surgery to improve cover of the femoral head; the dysplasia improved in two after varus femoral osteotomy and in two after an acetabular shelf operation. During long-term follow-up the dysplasia deteriorated to subluxation in two patients (CE angles 4° and 5°, respectively) who both developed osteoarthritis (OA), and one of these underwent total hip replacement at the age of 49 years. In conclusion, the long-term prognosis for the contralateral hip was relatively good, as OA occurred in only two hips (4%) at a mean follow-up of 50 years. Regular review of the 'normal' side is indicated, and corrective surgery should be undertaken in those who develop subluxation. ©2014 The British Editorial Society of Bone & Joint Surgery.

  13. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities.

    PubMed

    Bui, Peter H; Dorrani, Naghmeh; Wong, Derek; Perens, Gregory; Dipple, Katrina M; Quintero-Rivera, Fabiola

    2013-07-01

    Deletions of the long arm of chromosome 18 have been previously reported in many patients. Most cases involve the more distal regions of the long arm (18q21.1->qter). However, proximal interstitial deletions involving 18q11.2 are extremely rare. Here we report on a 14-month-old female with a 4.7 Mb (19,667,062-24,401,876 hg19) de novo interstitial deletion within chromosomal band 18q11.2, which includes GATA6 and 24 other RefSeq genes. The clinical features of our patient include complex congenital heart defects, a double outlet right ventricle, a subaortic ventricular septal defect, D-malposed great arteries, an atrial septal defect, a dysplastic aortic valve and patent ductus arteriosus. In addition, she had renal anomalies-a duplicated collecting system on the left and mild right hydronephrosis. These heart and renal defects are not reported in other patients with 18q proximal interstitial deletions. Heterozygous point mutations in GATA6, encoding for a zinc finger transcription factor, have been shown to cause congenital heart defects. Given the well-established biological role of GATA6 in cardiac development, a deletion of GATA6 is very likely responsible for our patient's complex congenital heart defects. This is the smallest and most proximal 18q11.2 deletion involving GATA6 that is associated with complex congenital heart disease and renal anomalies. Copyright © 2013 Wiley Periodicals, Inc.

  14. [Craniofacial fibrous dysplasia].

    PubMed

    Couturier, A; Aumaître, O; Mom, T; Gilain, L; André, M

    2016-12-01

    Fibrous dysplasia of bone is a benign, uncommon, sporadic, congenital skeletal disorder resulting in deformity. This disease arises from activating somatic mutation in GNAS which encodes the α subunit of the G stimulatory protein associated with proliferation of undifferentiated osteogenic cells resulting in marrow fibrosis, abnormal matrix production, and stimulation of osteoclastic resorption upon overproduction of IL-6 observed in dysplastic cells. Fibrous dysplasia may be monostotic or polyostotic. This mutation affecting many tissues, café au lait skin macules and endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome) may be associated in McCune-Albright syndrome, but also myxoma in Mazabraud syndrome or phosphate diabetes. Diagnosis of craniofacial fibrous dysplasia should be considered in the presence of headache, neuralgia, sensory disorders (vision, hearing, balance, smelling), functional disorders (nasal obstruction, nasolacrimal duct obstruction, non-matching occlusion), infectious complications (sinusitis, otitis, mastoiditis). Such symptoms should lead to perform craniofacial CT scan completed with MRI. Bone biopsy is not systematic. Surgical treatment is discussed in cases of nervous complication, facial deformity or active lesions. In case of pain resistant to conventional analgesics, intravenous bisphosphonates can be proposed. In non-responder patients, several case reports suggest the efficacy of a monoclonal antibody directed against the IL-6 receptor which requires to be confirmed by randomized studies.

  15. Holoprosencephaly with caudal dysplasia. Pseudo-trisomy 13 or a distinct entity?

    SciTech Connect

    Hicks, R.P.B.; Aylsworth, A.S.; Timmons, M.C.

    1994-09-01

    We have studied three chromosomally normal patients with multiple anomalies that include holoprosencephaly and caudal dysplasia. Each has features found in patients with pseudo-trisomy 13, though each lacks malformations common in that syndrome. Patients 1 and 2 did not have polydactyly and patients 2 and 3 had no congenital heart malformation. Patient 1 is also unusual in that he does not have typical holoprosencephalic facies and is alive at age 25 months. We have also identified two other similar patients in the London Dysmorphology Database, each of which had holoprosencephaly, congenital heart malformation, and imperforate anus. Isolated caudal dysplasia and holoprosencephaly are both causally heterogeneous. They have been reported together rarely in patients with several different syndromes including chromosomal abnormalities, monogenic syndromes, teratogenic insults, and syndromes of unknown cause. Over thirty cases of {open_quotes}pseudo-trisomy 13{close_quotes} have now been reported and eight of these have had features of caudal dysplasia. There have been four with imperforate anus or anal stenosis, one with lumbosacral vertebral anomaly, and three others with bilateral renal agenesis or hypoplasia. Based on our patients and this review of other reported and unreported cases, we suggest that caudal dysplasia may be a significant clinical feature of pseudo-trisomy 13. Alternatively, holoprosencephaly and caudal dysplasia with a normal karyotype may represent a similar though distinct entity. Some may have submicroscopic chromosomal deletions. Molecular studies of regions known to be associated with holoprosencephaly are currently in progress on tissue from Patient 1. We hope these observations will stimulate reports of similarly affected patients to allow better definition of pseudo-trisomy 13 and other overlap syndromes.

  16. Population-based study of the incidence of congenital hip dysplasia in preterm infants from the Survey of Neonates in Pomerania (SNiP).

    PubMed

    Lange, A E; Lange, J; Ittermann, Till; Napp, M; Krueger, Paul-Christian; Bahlmann, H; Kasch, R; Heckmann, M

    2017-03-16

    Some etiological factors involved in developmental dysplasia of the hip (DDH) occur in the last trimester of pregnancy, which could result in a decreased incidence of DDH in preterm infants. The aim of this study was to compare the incidence of DDH between preterm and term infants. Ultrasound of the hip joint was performed in 2,534 term infants and 376 preterm infants within the population-based Survey of Neonates in Pomerania (SNiP) study. A total of 42 (1.66%) term infants had DDH (Graf type II c, 0.8%; type D, 0.3% left and 0.4% right; type III a, 0.2% left). Eighteen infants had bilateral findings. Hip dysplasia occurred more frequently in female neonates (32/1,182 vs. 10/1,302, p < 0.023; 95% CI 0.012-0.022, χ (2) test). A familial disposition for DDH was found in 169 (6.7%) term infants and 181 (7.1%) infants in the overall population. In preterm infants, dysplasia of the hip was found in only three late preterm infants with gestational age between 36 and 37 weeks (n = 97) and not in preterm infants <36 weeks gestational age (n = 279). Regression analysis revealed a narrowly significant association between gestational week of birth and DDH (relative risk = 1.17; 95% confidence interval 0.99-1.37; p = 0.065). Our study suggests that preterm infants <36 weeks gestational age have a decreased risk of DDH.

  17. Congenital giant plexiform neurofibroma with occipital calvarial dysplasia in association with meningoencephalocele in neurofibromatosis Type 1 and segmental neurofibromatosis: report of 2 cases.

    PubMed

    Dadlani, Ravi; Sadanand, Venkatraman; Ghosal, Nandita; Hegde, Alangar S

    2013-11-01

    Giant plexiform neurofibroma (GPNF) of the scalp is an extremely rare lesion reported in association with neurofibromatosis. Occipital location of GPNF is even more infrequent, especially in association with occipital dysplasia (OD). The authors report 2 pediatric cases of GPNF associated with OD. The first case had an associated meningoencephalocele, and the second had large vascular channels within the lesion and the dominant ipsilateral transverse sinus lying in the center of the calvarial defect. The authors present these 2 unusual cases with a review of literature and discuss the radiological findings, theories of etiopathogenesis of the OD, and management dilemmas.

  18. [Association between fluid overload and acute renal injury after congenital heart disease surgery in infants].

    PubMed

    Luo, De-Qiang; Chen, Zi-Li; Dai, Wei; Chen, Feng

    2017-04-01

    To study the association between fluid overload and acute kidney injury (AKI) after congenital heart disease surgery in infants. A retrospective analysis was performed on 88 infants aged less than 6 months who underwent a radical surgery for congenital heart disease. The treatment outcomes were compared between the infants with AKI after surgery and those without. The effect of cumulative fluid overload on treatment outcomes 2 days after surgery was analyzed. The risk factors for the development of AKI after surgery were assessed by logistic regression analysis. Compared with those without AKI after surgery, the patients with AKI had younger age, lower body weights, higher serum creatinine levels and higher vasoactive-inotropic score, as well as longer durations of intraoperative extracorporeal circulation and aortic occlusion (P<0.05). Compared with those without AKI after surgery, the patients with AKI had a higher transfusion volume, a higher incidence rate of low cardiac output syndrome, a longer duration of mechanical ventilation, a longer length of stay in the intensive care unit (ICU), a longer length of hospital stay, a higher application rate of extracorporeal membrane oxygenation, a higher 30-day mortality rate, and higher levels of cumulative fluid overload 2 and 3 days after surgery (P<0.05). The logistic regression analysis showed that fluid overload and low cardiac output syndrome were major risk factors for the development of AKI after surgery. The children with cumulative fluid overload >5% at 2 days after surgery had a higher incidence rate of low cardiac output syndrome, a longer duration of mechanical ventilation, a longer length of stay in the ICU, a longer length of hospital stay, and a higher mortality rate (P<0.05). Infants with fluid overload after surgery for congenital heart disease tend to develop AKI, and fluid overload may be associated with poor outcomes after surgery.

  19. MicroRNA-211 causes ganglion cell dysplasia in congenital intestinal atresia via down-regulation of glial-derived neurotrophic factor.

    PubMed

    Xia, Z-Q; Ding, D-K; Zhang, N; Wang, J-X; Yang, H-Y; Zhang, D

    2016-02-01

    MicroRNAs (miRNAs) are known to be involved in normal brain functions and nervous system diseases. Some evidence have pointed to the dysregulation of miRNAs in congenital intestinal atresia. In this study, we investigated the differential expression of miRNAs and the posttranscriptional regulation of glial-derived neurotrophic factor (GDNF) by endogenous miRNA in congenital intestinal atresia. Quantitative real-time PCR and a Western blot were performed to determine the regulation of miRNA and GDNF in patients with congenital intestinal atresia. The results were verified in rat model of intestinal atresia and bone marrow derived stem cell BMSCs-derived into intestinal ganglion cells. The effects of miRNA and GDNF on the cell proliferation and apoptosis of isolated intestinal ganglion cells were detected with an 3-(4,5-dimethylthiazol)-2,5-diphenyl tetrazolium (MTT) assay and a terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay, respectively. Only miR-211 was greatly up-regulated in the patients with congenital intestinal atresia. The other miRNAs examined showed no change. Overexpression of miR-211 suppressed the differentiation of BMSCs into intestinal ganglion cells. In retinal ganglion cells (RGC-5 cells), miR-211 regulated the expression of GDNF. The MTT and TUNEL assays revealed that miR-211 overexpression suppressed the cell proliferation of isolated intestinal ganglion cells and that GDNF overexpression reversed the effect of pre-miR-211 on cell proliferation and apoptosis. Our results indicate that overexpression of miR-211 suppresses the differentiation of BMSCs into intestinal ganglion cells by directly down-regulating the expression of GDNF. The findings elucidate the role of miRNA in congenital intestinal atresia. © 2015 John Wiley & Sons Ltd.

  20. Renal

    MedlinePlus

    ... term "renal" refers to the kidney. For example, renal failure means kidney failure. Related topics: Kidney disease Kidney disease - diet Kidney failure Kidney function tests Renal scan Kidney transplant

  1. [Spondyloepiphyseal and metaphyseal dysplasia].

    PubMed

    Wirth, T

    2008-01-01

    Spondyloepiphyseal, metaphyseal and spondylometaphyseal dysplasias are a group of hereditary skeletal diseases, which lead to small stature, axial deformities of the lower extremities and spinal deformities. They differ in pathophysiology, heredity and in their clinical and radiologic appearance. The orthopaedic surgeon treats the spinal manifestations and the axial malalignment of the disease. Among the spinal deformities there are instabilities of the upper cervical spine as well as structural deformities like kyphosis and scoliosis. More frequently, the axial malalignment caused by congenital coxa vara, severe genu varum or genu valgum requires treatment. These deformities are managed by corrective osteotomies of the proximal femur, supracondylar or proximal tibial osteotomies around the knee and by temporary epiphyseodeses. Despite a high recurrence rate requiring repeated surgery the patients report great satisfaction with the treatment results. Well-timed orthopaedic treatment helps avoid or delay the inevitable long-term sequelae of untreated patients such as painful degenerative changes of the spine or early onset of severe osteoarthritis.

  2. Renal Aplasia in Humans Is Associated with RET Mutations

    PubMed Central

    Skinner, Michael A.; Safford, Shawn D.; Reeves, Justin G.; Jackson, Margaret E.; Freemerman, Alex J.

    2008-01-01

    In animal models, kidney formation is known to be controlled by the proteins RET, GDNF, and GFRA1; however, no human studies to date have shown an association between abnormal kidney development and mutation of these genes. We hypothesized that stillborn fetuses with congenital renal agenesis or severe dysplasia would possess mutations in RET, GDNF, or GFRA1. We assayed for mutations in these genes in 33 stillborn fetuses that had bilateral or unilateral renal agenesis (29 subjects) or severe congenital renal dysplasia (4 subjects). Mutations in RET were found in 7 of 19 fetuses with bilateral renal agenesis (37%) and 2 of 10 fetuses (20%) with unilateral agenesis. In two fetuses, there were two different RET mutations found, and a total of ten different sequence variations were identified. We also investigated whether these mutations affected RET activation; in each case, RET phosphorylation was either absent or constitutively activated. A GNDF mutation was identified in only one fetus with unilateral agenesis; this subject also had two RET mutations. No GFRA1 mutations were seen in any fetuses. These data suggest that in humans, mutations in RET and GDNF may contribute significantly to abnormal kidney development. PMID:18252215

  3. Abnormal sodium pump distribution during renal tubulogenesis in congenital murine polycystic kidney disease.

    PubMed

    Avner, E D; Sweeney, W E; Nelson, W J

    1992-08-15

    Congenital polycystic kidney disease is characterized by the formation of large fluid-filled cysts in kidney tubules. It has been postulated that increased epithelial cell proliferation and altered transtubular fluid transport are necessary for cyst formation. To address the latter problem, we have studied the plasma membrane distribution of the alpha 1 and beta 1 subunits of Na+/K(+)-ATPase during progressive stages of proximal and collecting tubular cyst formation in the CPK mouse, a murine model of autosomal recessive polycystic kidney disease. In both control and cystic proximal tubules, Na+/K(+)-ATPase distribution was restricted to the basal-lateral membrane of cells. However, in newborn through day 5 kidney tissue, 16% of control vs. 47% of cystic outer cortical, 6% of control vs. 46% of cystic inner cortical, and 2% of control vs. 63% of cystic medullary collecting tubules demonstrated apical and lateral membrane distribution of Na+/K(+)-ATPase. In all nephrogenic zones, the percentage of control or cystic collecting tubules demonstrating apical membrane distribution of Na+/K(+)-ATPase decreased over time, but the percentage of cystic collecting tubules with apical membrane Na+/K(+)-ATPase remained significantly greater than in developmentally matched controls. No alterations in the normal distributions of other apical or basal-lateral membrane marker proteins were noted at any stage of control or cystic proximal or collecting tubule development. We conclude that apical-lateral membrane Na+/K(+)-ATPase expression is a normal transient feature of early collecting tubule development. However, apical membrane Na+/K(+)-ATPase persists in cystic kidneys, suggesting that such expression may be a manifestation of the relatively undifferentiated phenotype of epithelial cells lining collecting tubule cysts. The persistence of apical membrane Na+/K(+)-ATPase, if the enzyme is functional, may have pathogenic important in abnormal transtubular fluid transport in

  4. Thanatophoric Dysplasia: A Case Report

    PubMed Central

    Jyoti; Jain, Rekha; Devendra

    2015-01-01

    Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat vertebral bodies) and macrocephaly. TD is divided into two clinically defined subtypes: type I and II with some clinical overlap between the two subtypes. They can be differentiated by the skull shape and femur morphology. Ultrasound examination in the second trimester is often straight forward in diagnosing the congenital anomaly. We report a case of pre term fresh stillborn baby with dysmorphic facies, macrocephaly, micromelia with short stubby fingers and deep skin creases, narrow thorax and protuberant abdomen which delivered at our hospital. The ultrasound examination showed shortening of long bones with femur shaped like telephone receiver. Dysmorphic facial features and skeletal abnormalities in the baby lead us to make the diagnosis of TD type I. Because of the rarity of this condition we report this case of thanatophoric dysplasia with a short review of literature. PMID:26675119

  5. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies

    PubMed Central

    Gajbhiye, Rahul; Kadam, Kaushiki; Khole, Aalok; Gaikwad, Avinash; Kadam, Seema; Shah, Rupin; Kumaraswamy, Rangaswamy; Khole, Vrinda

    2016-01-01

    Background & objectives: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. Methods: Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened. Results: Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A) were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings. PMID:27488005

  6. Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.

    PubMed

    Gajbhiye, Rahul; Kadam, Kaushiki; Khole, Aalok; Gaikwad, Avinash; Kadam, Seema; Shah, Rupin; Kumaraswamy, Rangaswamy; Khole, Vrinda

    2016-05-01

    The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens and unilateral renal agenesis (CBAVD-URA) has been controversial. Here, we report the cases of five Indian males with CBAVD-URA. The objective was to evaluate the presence or absence of CFTR gene mutations and variants in CBAVD-URA. The female partners of these males were also screened for cystic fibrosis (CF) carrier status. Direct DNA sequencing of CFTR gene was carried out in five Indian infertile males having CBAVD-URA. Female partners (n=5) and healthy controls (n=32) were also screened. Three potential regulatory CFTR gene variants (c.1540A>G, c.2694T>G and c.4521G>A) were detected along with IVS8-5T mutation in three infertile males with CBAVD-URA. Five novel CFTR gene variants (c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC and c.4375-69C>T), four potential regulatory CFTR gene variants (M470V, T854T, P1290P, Q1463Q) and seven previously reported CFTR gene variants (c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A) were detected in infertile men having CBAVD and renal anomalies Interpretation & conclusions: Based on our findings, we speculate that CBAVD-URA may also be attributed to CFTR gene mutations and can be considered as CFTR-related disorder (CFTR-RD). The CFTR gene mutation screening may be offered to CBAVD-URA men and their female partners undergoing ICSI. Further studies need to be done in a large sample to confirm the findings.

  7. Skeletal Dysplasias

    PubMed Central

    Krakow, Deborah

    2015-01-01

    Synoposis The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care it is important to determine a precise diagnosis to aid in management, familial recurrence and identify those disorders highly associated with mortality. Long-term management of these disorders is predicated on an understanding of the associated skeletal system abnormalities and these children are best served by a team approach to health care surveillance. PMID:26042906

  8. Branchio-oto-renal syndrome plus; a contiguous gene constellation of congenital anomalies?

    SciTech Connect

    Kelly, T.E.

    1994-09-01

    A term female infant was referred to the University Hospital because of respiratory distress secondary to bilateral choanal stenosis. Her examination revealed bilateral pre-auricular pits, branchial fistulae, cupped shaped ears, and bilateral athelia. She failed ABR screening; her creatinine was elevated to 1.5 mgs% and renal ultra-sonography showed reduced kidney size bilaterally. She was the product of her mother`s third pregnancy. The first produced a now normal 5 year old son. The second pregnancy was complicated by oligohydramnios and resulted in a premature delivery at 27 weeks gestation. The infant expired secondary to pulmonary hypoplasia. The mother had bilateral neurosensory deafness, pre-auricular pits, cupped shaped ears, lacrimal stenois and bilateral athelia. She wore dentures having earlier been diagnosed with dentogeneis imperfecta. She was shorter than her three normal sisters and had experienced academic problems throughout her school years. The maternal grandfather had an adult onset neurosensory hearing loss, but he and the maternal grandmother exhibited no other features of the BOR syndrome. Althelia was present only in the mother and daughter. The mother clearly has BOR syndrome transmitted to one, and possibly two, of her three offspring. The additional features of athelia, choanal stenosis and dentogenesis imperfecta are thought to represent additional autosomal dominant traits. Greenberg described an infant with athelia and choanal atresia. By family linkage studies, the BOR syndrome has been mapped to 8q13-21 with no recombination observed with loci D8S530 and D8S279. Given a normal prophase karyotype in the proband, it is speculated that a sub-microscopic deletion at 8q13-21 is the likely basis for the constellation of birth defects seen in this mother and daughter. Analysis of D8S530 and D8S279 is currently underway in this family.

  9. Congenital alterations of glutamic acid 223 in the second NEMO alpha-helix result in Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Normal Serum IgG Levels

    PubMed Central

    Karamchandani-Patel, Gital; Hanson, Eric P.; Saltzman, Rushani; Kimball, C. Eve; Sorensen, Ricardo U.; Orange, Jordan S.

    2011-01-01

    Background Hypomorphic mutations in the NF-κB essential modulator (NEMO) gene result in a variable syndrome of somatic and immunological abnormalities. Clinically relevant genotype-phenotype associations are essential to understanding this complex disease. Objective Two unrelated boys with novel NEMO mutations altering codon 223 were studied for similarity in phenotype in consideration of potential genotype-phenotype associations. Methods Clinical and Laboratory features including cell counts, immunoglobulin quantity and quality, NK cell cytotoxicity, Toll-like and TNF receptor signaling were evaluated. Since both mutations affected NEMO codon 223 and were novel, consideration was given to new potential genotype-phenotype associations. Results Both patients were diagnosed with hypohydrotic ectodermal dysplasia and had severe or recurrent infections. One had recurrent sinopulmonary infections and the other necrotizing soft tissue MRSA infection and Streptococcus anginosus subdural empyema with bacteremia. NEMO gene sequence demonstrated a three-nucleotide deletion (c.667_669delGAG) in one patient and a substitution (667G>A) in the other. These predict either the deletion of NEMO glutamic acid 223 or it being replaced with lysine, respectively. Both patients had normal serum IgG levels but poor specific antibodies. NK cell cytotoxicity, Toll-like and TNF receptor signaling was also impaired. Serious bacterial infection did not occur in both patients after immunoglobulin replacement therapy. Conclusions Two different novel mutations affecting NEMO glutamic acid 223 resulted in clinically relevant similar phenotypes providing further evidence to support genotype-phenotype correlations in this disease. They suggest NEMO residue 223 is required for ectodermal development and immunity and is apparently dispensable for quantitative IgG production, but may be required for specific antibody production. PMID:21704885

  10. Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.

    PubMed

    Karamchandani-Patel, Gital; Hanson, Eric P; Saltzman, Rushani; Kimball, C Eve; Sorensen, Ricardo U; Orange, Jordan S

    2011-07-01

    Hypomorphic mutations in the nuclear factor-κB (NF-κB) essential modulator (NEMO) gene result in a variable syndrome of somatic and immunologic abnormalities. Clinically relevant genotype-phenotype associations are essential to understanding this complex disease. To study 2 unrelated boys with novel NEMO mutations altering codon 223 for similarity in phenotype in consideration of potential genotype-phenotype associations. Clinical and laboratory features, including cell counts, immunoglobulin quantity and quality, natural killer cell cytotoxicity, and Toll-like and tumor necrosis factor receptor signaling, were evaluated. Because both mutations affected NEMO codon 223 and were novel, consideration was given to new potential genotype-phenotype associations. Both patients were diagnosed as having hypohidrotic ectodermal dysplasia and had severe or recurrent infections. One had recurrent sinopulmonary infections and the other necrotizing soft tissue methicillin-resistant Staphylococcus aureus infection and Streptococcus anginosus subdural empyema with bacteremia. NEMO gene sequence demonstrated a 3-nucleotide deletion (c.667_669delGAG) in one patient and a substitution (667G>A) in the other. These findings predict either the deletion of NEMO glutamic acid 223 or it being replaced with lysine, respectively. Both patients had normal serum IgG levels but poor specific antibodies. Natural killer cell cytotoxicity and Toll-like and tumor necrosis factor receptor signaling were also impaired. Serious bacterial infection did not occur in both patients after immunoglobulin replacement therapy. Two different novel mutations affecting NEMO glutamic acid 223 resulted in clinically relevant similar phenotypes, providing further evidence to support genotype-phenotype correlations in this disease. They suggest NEMO residue 223 is required for ectodermal development and immunity and is apparently dispensable for quantitative IgG production but may be required for specific antibody

  11. Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies.

    PubMed

    Johnston, D R; Whittemore, K; Poe, D; Robson, C D; Perez-Atayde, A R

    2011-10-01

    Described is the first case report, to our knowledge, of a middle-ear dermoid in a child with branchio-oto-renal (BOR) syndrome. Radiographic, pathologic, and intraoperative figures are shown. This was a diagnostic and surgical challenge as the presentation was similar to a congenital cholesteatoma and the child had numerous significant temporal bone abnormalities. After the intraoperative findings suggested a non-destructive process, the treatment strategy was altered. This case reiterates the need for a cautious, flexible operative approach in a syndromic child. Included is a relevant review of the literature and a detailed clinical analysis. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  12. Does the serum uric acid level have any relation to arterial stiffness or blood pressure in adults with congenital renal agenesis and/or hypoplasia?

    PubMed

    Yazici, Raziye; Guney, İbrahim; Altintepe, Lutfullah; Yazici, Mehmet

    2017-01-01

    The relationship between serum uric acid and arterial stiffness or blood pressure is not clear. The serum uric acid level and its association with cardiovascular risk is not well known in patients with reduced renal mass. We aimed to investigate the relation between serum uric acid levels and arterial stiffness and also blood pressure in patients with congenital renal agenesis and/or hypoplasia. In this single center, cross-sectional study, a total of 55 patients (39 (% 70.9) with unilateral small kidney and 16 (%29.1) with renal agenesis) were included. The median age was 35 (21-50) years. The study population was divided into tertiles of serum uric acid (according to 2.40-3.96, 3.97-5.10, and 5.11-9.80 mg/dl cut-off values of serum uric acid levels). Official and 24-h ambulatory non-invasive blood pressures of all patients were measured. The arterial stiffness was assessed by pulse wave velocity (PWV). PWV values were increased from first to third tertile (5.5 ± 0.6, 5.7 ± 0.8, 6.1 ± 0.7, respectively), but this gradual increase between tertiles did not reach significance. Linear regression analyses showed a positive correlation between serum uric acid levels and PWV (β = 0.40, p = 0.010), but no correlation was found between uric acid and daytime systolic blood pressure (β = 0.24, p = 0.345). In congenital renal agenesis/hypoplasia, the serum uric acid level was positively correlated with arterial stiffness, but there was no correlation with blood pressure.

  13. [Fibrous dysplasia].

    PubMed

    Rödl, R; Götze, C

    2008-01-01

    Fibrous dysplasia is a tumorlike, benign lesion, caused by sporadic mutation during early embryogenesis. The skeletal involvement becomes increasingly visible during growth. The number and extent of dysplastic lesions increase until the age of 15. The polyostotic form is often associated with endocrine dysfunction, which should be diagnosed and treated early. Malignant transformation of fibrous dysplastic lesions is less than 1%; therefore, treatment or resection of the lesion itself is not necessary. The progress of the lesions during growth can lead to pain, fractures, and deformities. Bisphosphonates are effective for pain relief, but have no assured effect on the natural history of the disease. Fracture healing is not compromised by the disease. Conservative treatment with casts is therefore effective, especially for the upper limbs. The surgical approach with deformity correction and stabilization remains challenging particularly with regard to the proximal femur. Intramedullary devices should be preferred to plates, if possible.

  14. Camptomelic dysplasia: prenatal diagnosis by ultrasound.

    PubMed

    Natasha, Gupta; Ghai, Rajeev; Shah, Dheeraj; Kiran, P S

    2006-09-01

    We report a case of camptomelic dysplasia, an extremely rare lethal congenital bony dysplasia with an incidence of about 2 per million live births. Diagnosis was made antenatally at a gestational age of about 25 weeks by sonographic demonstration of anterior bowing of long bones, hypoplastic scapulae, bilateral talipes equinovarus, and normally ossified unfractured ribs. The mother elected to terminate the pregnancy, and the diagnosis was confirmed on clinical and radiographic examination of the fetus. Radiological features and differential diagnoses of this entity are discussed.

  15. Congenital ureteropelvic junction obstruction: physiopathology, decoupling of tout court pelvic dilatation-obstruction semantic connection, biomarkers to predict renal damage evolution.

    PubMed

    Alberti, C

    2012-02-01

    The widespread use of fetal ultrasonography results in a frequent antenatally observation of hydronephrosis, ureteropelvic junction obstruction (UPJO) accounting for the greatest fraction of congenital obstructive nephropathy. UPJO may be considered, in most cases, as a functional obstructive condition, depending on defective fetal smooth muscle/nerve development at this level, with lack of peristaltic wave propagation--aperistaltic segment--and, therefore, poor urine ejection from the renal pelvis into the ureter. The UPJO-related physiopathologic events are, at first, the compliant dilatation of renal pelvis that, acting as hydraulic buffer, protects the renal parenchyma from the rising intrapelvic pressure-related potential damages, and, subsequently, beyond such phase of dynamic balance, the tubular cell stretch-stress induced by increased intratubular pressure and following parenchymal inflammatory lesions: inflammatory infiltrates, fibroblast proliferation, activation of myofibroblasts, tubulo-interstitial fibrosis. Reactive oxygen species (ROS), nitric oxide (NO), several chemo- and cytokines, growth factors, prostaglandins and eicosanoids, angiotensin-II are the main pathogenetic mediators of the obstructive nephropathy. Apoptosis of tubular cells is the major cause of the tubular atrophy, together with epithelial-mesenchymal transdifferentiation. Some criticisms on tout court semantic renal pelvis dilatation-obstruction connection have been raised considering that the renal pelvis expansion isn't, in any case, linked to an ostructive condition, as it may be verified by diuretic (furosemide) renogram together with scintiscan-based evaluation of differential renal function. In this regard, rather than repetitive invasive nuclear procedures that expose the children to ionizing radiations, an intriguing noninvasive strategy, based on the evaluation of urinary biomarkers and urinary proteome, can define the UPJO-related possible progress of parenchymal lesions

  16. Severity grading in radial dysplasia.

    PubMed

    Vilkki, S K

    2014-11-01

    A functional scoring method to grade the usefulness and quality of the upper limbs in congenital radial dysplasia is presented. It is based on the author's examinations of 44 arms with congenital deficiency of the radius. The hand (H), wrist (W) and proximal parts (P) of the extremity are each scored from 0 to 10 points for severity. The scoring is expressed similarly to the TNM (tumour, nodes, metastasis) tumour classification, for example as H5W4P2. The maximum severity index is 30 points. A severity grade of mild is between 1 and 8 points, moderate between 9 and 16 points and severe 17 points and over. In the author's series, the grades were mild in eight, moderate in 21 and severe in 15 cases. The functional severity grading should allow better comparison of radially deficient limbs and the results of treatment between groups of patients. © The Author(s) 2014.

  17. Genetics Home Reference: boomerang dysplasia

    MedlinePlus

    ... Dysplasia MalaCards: boomerang dysplasia Orphanet: Boomerang dysplasia Patient Support and Advocacy Resources (3 links) International Skeletal Dysplasia Registry, UCLA March of Dimes: Loss and Grief The Compassionate Friends GeneReviews (1 link) FLNB-Related ...

  18. Oculodentodigital dysplasia

    PubMed Central

    Doshi, Dharmil C; Limdi, Purvi K; Parekh, Nilesh V; Gohil, Neepa R

    2016-01-01

    Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo), teeth (dento), and fingers and/or toes (digital). The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood. PMID:27146935

  19. Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case

    PubMed Central

    Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

    2013-01-01

    Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition. PMID:24179947

  20. Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type.

    PubMed

    Chaudhuri, Abanti; Kambham, Neeraja; Sutherland, Scott; Grimm, Paul; Alexander, Steven; Concepcion, Waldo; Sarwal, Minnie; Wong, Cynthia

    2012-08-01

    Congenital nephrotic syndrome (CNS) of the Finnish type due to mutation in the NPHS-1 gene results in massive proteinuria due to structural abnormality in the glomerular slit diaphragm, and is usually refractory to immunosuppressive therapy. Patients eventually require bilateral nephrectomy and renal replacement therapy, with transplantation being the ultimate goal. Post-transplant recurrence of nephrotic syndrome occurs in about 25% of children and is thought to be immune-mediated secondary to antibodies formed against the nephrin protein in renal allograft. Conventional therapy with calcineurin inhibitors (CNI), cyclophosphamide and corticosteroids with or without plasmapheresis often fails to achieve remission resulting in graft loss in 12-16%. There is limited experience with use of rituximab (RTX) in pediatric organ transplant recipients. We report the first case of post-transplant recurrence of nephrotic syndrome in a 4-yr-old child with CNS due to NPHS-1 mutation in whom CNI, corticosteroid and cyclophosphamide therapy was unsuccessful, but who achieved remission after depletion of B cells with RTX, associated with a decrease in the level of anti-nephrin antibodies. The child remains in remission 5 yr following treatment. Our experience suggests that activated B cells may play a pivotal role in the recurrence of nephrosis after renal transplantation in children with CNS.

  1. [Fibrous dysplasia of bone].

    PubMed

    Orcel, Philippe; Chapurlat, Roland

    2007-10-31

    Fibrous dysplasia of bone is a congenital non hereditary benign bone disease, where normal bone is replaced by a fibrous-like tissue with immature osteogenesis. Prevalence is difficult to estimate, due to frequent asymptomatic lesions. Bone lesions are mono- or polyostotic and may be associated with bone pain and fragility, leading to fractures. In some patients or bone sites, they are hypertrophic, responsible for neurological complications. Imaging and, when necessary, histology are the cornerstones of the diagnosis. A common molecular defect, i.e. activating mutations of the GNAS gene, encoding the a subunit of the Gs protein in target cells, is responsible for bone cell alterations as well as for the involvement of other cells/tissues bearing the same molecular defect (melanocytes, endocrine cells). These mutations affect only somatic cells and are therefore not hereditary: antenatal diagnosis is not appropriate for this disease and genetic counselling is not very useful, except for reassuring the patients. The conventional therapeutic approach is essentially symptomatic (pain killers) and orthopaedic (prevention and treatment of bone complications). Recent publications have focused attention on pamidronate, which rapidly relieves bone pain in most patients, and progressively increases bone mineralization in osteolytic areas in about half of the patients. Tubular phosphate wasting is common and should be treated with phosphate supplement and calcitriol. The prognosis should improve with therapeutic advances, but this remains to be properly evaluated.

  2. [Unilateral pulmonary agenesis, aplasia and dysplasia].

    PubMed

    Dembinski, J; Kroll, M; Lewin, M; Winkler, P

    2009-04-01

    Unilateral pulmonary anomalies are rare events of unknown etiology and large clinical variability. Neonatal history does not allow for a reliable prognosis. Interdisciplinary mangament includes prenatal diagnostics and obstetrics, genetics, neonatology, pediatric cardiology and surgery as well as pediatric orthopedics. Neonatal history and long-term follow-up in three patients are presented here including a discussion of prenatal diagnostics and the embryo-genetic basics of lung development. In three term neonates the diagnoses of unilateral pulmonary agenesis, aplasia and dysplasia, respectively, were based on angiography, MRI and bronchoscopy. Neonatal presentation and long-term consequences were studied in the context of the current literature. Neonatal complications ranged from mild repiratory distress to pulmonary failure requiring mechanical ventilation. One patient developed scoliosis on long-term follow-up. Cardiac failure or pulmonary hypertension did not occur during follow-up, in one case lung malformation was accompanied by VACTER-association. Unilateral lung malformation is frequently associated with other, singular or complex anomalies (e.g., renal and vascular). A possible relationship to disrupted regulation of embryo-genetic factors such as T-BOX genes, PITX2 and growth factors ( FGF10), which regulate ASYMMETRICAL pulmonary morphogenesis is discussed. Disruptive unilateral pulmonary malformations may serve as a model for embryological lung development and other anomalies (e.g., congenital diaphragmatic hernia, unilateral hypoplasia and CCAM). Prenatal diagnosis is characterized by unilateral hyperechogenicity of the affected lung. Neonatal presentation is determined by mediastinal shift which may be corrected by tissue-expander implantation. Associated anomalies require cytogenetic analysis and sequencing of currently known mutations. Long-term follow-up by echocardiography and pulmonary function testing is mandatory in these patients.

  3. Pseudoachondroplastic Dysplasia

    PubMed Central

    Stevens, Jeff W

    1999-01-01

    Lamellar inclusions of the rough endoplasmic reticulum in growth plate chondrocytes, first identified (1972) in the Department of Orthopaedic Surgery, University of Iowa, has become the cytochemical hallmark for the pseudoachondroplastic dysplasia (PSACH) phenotype, linking an endoplasmic reticulum storage disorder with the osteochondrodysplasia. Since this original observation, great advances have been made, leading to the molecular understanding of this altered longitudinal bone growth anomaly. A PSACH canine model suggested that abatement of cumulative vertical growth of growth plate chondrocytes seen in PSACH results from (1) altered extracellular matrix constraints for horizontal growth and (2) uncoupling of endochondral and perichondral growth that causes metaphyseal flaring. PSACH, an autosomal dominant disease, is linked to mutation of the cartilage oligomeric matrix protein (COMP) gene. Amino acid substitutions, deletions, or additions is proposed to alter COMP structure that cause its retention in the rough endoplasmic reticulum of growth plate chondrocytes, leading to (1) compositional and structural change of the extracellular matrix, and (2) altered cellular proliferation and volume expansion. Normal growth and development occurs in COMP gene knockout mice that do not synthesis COMP, demonstrating that a mutant COMP, not absence of COMP, is required for the PSACH phenotype. The mechanism by which mutant COMP induces a PSACH phenotype remains to be elucidated. At the University of Iowa a cell culture system has been developed whereby mutant COMP transgenes are introduced into chondrocytes and the expressed product COMP is retained in the endoplasmic reticulum. This readily manipulated system makes it possible to decipher systematically the system's cellular secretory processing pathway, in order to clarify the mechanism(s) by which the mutant COMP is retained within the endoplasmic reticulum. Concurrent with this is the development of transgenic mice

  4. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

    The management of congenital scoliosis requires a systematic approach with careful attention to detail. Any fortuitous diagnosis of vertebral anomalies in infancy, even if there is no significant scoliosis at that time on x-ray, requires frequent clinical and radiographic follow-up to detect progression. The presence of associated anomalies of the spinal cord, the kidneys and the heart should be evaluated by MRI, renal ultrasound or IVP, with cardiology evaluation as indicated. Curve progression or severe vertebral anomalies known to cause curve progression require immediate treatment to prevent deformity. Significant thoracic deformity, especially in a patient with thoracic insufficiency syndrome, is best treated with expansion thoracoplasty. The patient with congenital scoliosis requires a long term commitment to care with frequent orthopaedic follow-up throughout the growing years along with routine pulmonary function assessment once the patient is able to cooperate with testing.

  5. Schimke immuno-osseous dysplasia: case report and review of 25 patients

    PubMed Central

    Saraiva, J.; Dinis, A.; Resende, C.; Faria, E.; Gomes, C.; Correia, A; Gil, J.; da Fonseca, N.

    1999-01-01

    Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, the same diagnosis of Schimke immuno-osseous dysplasia should apply to them all. The aetiology and physiopathology of this rare osteochondrodysplasia of presumed autosomal recessive inheritance remain unknown.


Keywords: osteochondrodysplasia; immuno-osseous dysplasia; spondyloepiphyseal dysplasia; defective cellular immunity PMID:10528861

  6. A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)

    PubMed Central

    2014-01-01

    Background Schimke immuno-osseous dysplasia (SIOD, OMIM #242900) is an autosomal-recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. SIOD is caused by mutations in the gene SMARCAL1. Case presentation We report the clinical and genetic diagnosis of a 5-years old girl with SIOD, referred to our Center because of nephrotic-range proteinuria occasionally detected during the follow-up for congenital hypothyroidism. Mutational analysis of SMARCAL1 gene was performed by polymerase chain reaction (PCR) and bidirectional sequencing. Sequence analysis revealed that patient was compound heterozygous for two SMARCAL1 mutations: a novel missense change (p.Arg247Pro) and a well-known nonsense mutation (p.Glu848*). Conclusion This report provided the clinical and genetic description of a mild phenotype of Schimke immuno-osseous dysplasia associated with nephrotic proteinuria, decreasing after combined therapy with ACE inhibitors and sartans. Our experience highlighted the importance of detailed clinical evaluation, appropriate genetic counseling and molecular testing, to provide timely treatment and more accurate prognosis. PMID:24589093

  7. Glomerular filtration rate and renal volume in dogs with congenital portosystemic vascular anomalies before and after surgical ligation.

    PubMed

    Deppe, T A; Center, S A; Simpson, K W; Erb, H N; Randolph, J F; Dykes, N L; Yeager, A E; Reynolds, A J

    1999-01-01

    Glomerular filtration rate (GFR) and renal volume were evaluated in dogs with confirmed portosystemic vascular anomalies (PSVA) before and after surgical ligation of their PSVA. Pre- and postligation CBC, serum biochemistry, urinalysis, abdominal ultrasonography with measurement of renal volume, and per rectal scintigraphy were performed to document resolution of abnormalities consistent with portosystemic shunting. GFR was estimated by plasma 99mTc-diethylenetriaminepentaacetic acid (99mTc-DTPA) clearance before (n = 21) and after (n = 12) surgical correction of PSVA. Preligation 99mTc-DTPA GFR was increased (median, 5.64 mL/minute/kg; range, 3.53-8.49 mL/minute/kg; reference range, 2.83-4.47 mL/minute/kg) in 81% (17/21) of dogs. Postligation 99mTc-DTPA GFR decreased in all 12 evaluated dogs (median change = -42%; P < .001). Preligation renal volume was above the reference range for the left and right kidneys in 71% (10/14) and 69% (11/16) of dogs evaluated, respectively. Right renal volume decreased significantly (n = 5; median change, -45%; P = .03) after surgical ligation of PSVA. These findings document increased GFR and renal volume in dogs with PSVA, which may explain in part the low blood urea nitrogen and serum creatinine concentrations encountered in these dogs. Knowledge of changes in GFR associated with PSVA ligation may prove helpful in the anesthetic, drug, and dietary management of affected dogs.

  8. Genetics Home Reference: Czech dysplasia

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Czech dysplasia Czech dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Czech dysplasia is an inherited condition that affects joint ...

  9. Retinal dysplasia of holoprosencephaly.

    PubMed

    Gorovoy, Ian R; Layer, Noelle; de Alba Campomanes, Alejandra G

    2014-03-04

    Retinal dysplasia occurs in the setting of sporadic and syndromic holoprosencephaly, which often has associated ocular malformations. The pathology of this dysplasia, which includes rosettes, has been previously described. However, its funduscopic findings have not been well documented. The authors present the fundus images of a patient with severe holoprosencephaly with retinal dysplasia and bilateral optic nerve colobomas that resulted in death 2 weeks after birth.

  10. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

    PubMed

    Bergmann, Carsten; Fliegauf, Manfred; Brüchle, Nadina Ortiz; Frank, Valeska; Olbrich, Heike; Kirschner, Jan; Schermer, Bernhard; Schmedding, Ingolf; Kispert, Andreas; Kränzlin, Bettina; Nürnberg, Gudrun; Becker, Christian; Grimm, Tiemo; Girschick, Gundula; Lynch, Sally A; Kelehan, Peter; Senderek, Jan; Neuhaus, Thomas J; Stallmach, Thomas; Zentgraf, Hanswalter; Nürnberg, Peter; Gretz, Norbert; Lo, Cecilia; Lienkamp, Soeren; Schäfer, Tobias; Walz, Gerd; Benzing, Thomas; Zerres, Klaus; Omran, Heymut

    2008-04-01

    Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list of clinical manifestations and affected tissues in cilia-related disorders (ciliopathies) such as nephronophthisis is broad and has been attributed to the wide expression pattern of ciliary proteins. However, little is known about the molecular mechanisms leading to this dramatic diversity of phenotypes. We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration. Here, we chose a combinatorial approach in mice and humans to define the phenotypic spectrum of NPHP3/Nphp3 mutations and the role of the nephrocystin-3 protein. We demonstrate that the pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice. In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT). On the functional level, we show that nephrocystin-3 directly interacts with inversin and can inhibit like inversin canonical Wnt signaling, whereas nephrocystin-3 deficiency leads in Xenopus laevis to typical planar cell polarity defects, suggesting a role in the control of canonical and noncanonical (planar cell polarity) Wnt signaling.

  11. Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

    PubMed Central

    Bergmann, Carsten; Fliegauf, Manfred; Brüchle, Nadina Ortiz; Frank, Valeska; Olbrich, Heike; Kirschner, Jan; Schermer, Bernhard; Schmedding, Ingolf; Kispert, Andreas; Kränzlin, Bettina; Nürnberg, Gudrun; Becker, Christian; Grimm, Tiemo; Girschick, Gundula; Lynch, Sally A.; Kelehan, Peter; Senderek, Jan; Neuhaus, Thomas J.; Stallmach, Thomas; Zentgraf, Hanswalter; Nürnberg, Peter; Gretz, Norbert; Lo, Cecilia; Lienkamp, Soeren; Schäfer, Tobias; Walz, Gerd; Benzing, Thomas; Zerres, Klaus; Omran, Heymut

    2008-01-01

    Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list of clinical manifestations and affected tissues in cilia-related disorders (ciliopathies) such as nephronophthisis is broad and has been attributed to the wide expression pattern of ciliary proteins. However, little is known about the molecular mechanisms leading to this dramatic diversity of phenotypes. We recently reported hypomorphic NPHP3 mutations in children and young adults with isolated nephronophthisis and associated hepatic fibrosis or tapetoretinal degeneration. Here, we chose a combinatorial approach in mice and humans to define the phenotypic spectrum of NPHP3/Nphp3 mutations and the role of the nephrocystin-3 protein. We demonstrate that the pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice. In humans, we show that NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects comprising situs inversus, polydactyly, central nervous system malformations, structural heart defects, preauricular fistulas, and a wide range of congenital anomalies of the kidney and urinary tract (CAKUT). On the functional level, we show that nephrocystin-3 directly interacts with inversin and can inhibit like inversin canonical Wnt signaling, whereas nephrocystin-3 deficiency leads in Xenopus laevis to typical planar cell polarity defects, suggesting a role in the control of canonical and noncanonical (planar cell polarity) Wnt signaling. PMID:18371931

  12. Hypohidrotic ectodermal dysplasia: a felicitous approach to esthetic and prosthetic management.

    PubMed

    Singh, Tapan; Singh, Ronauk; Singh, Gurendra Pal; Singh, Jitender Pal

    2013-05-01

    Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. This case report describes the prosthodontic oral rehabilitation of a 16 years old female pediatric patient with ectodermal dysplasia. How to cite this article: Singh T, Singh R, Singh GP, Singh JP. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management. Int J Clin Pediatr Dent 2013;6(2):140-145.

  13. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management

    PubMed Central

    Singh, Ronauk; Singh, Gurendra Pal; Singh, Jitender pal

    2013-01-01

    ABSTRACT Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. This case report describes the prosthodontic oral rehabilitation of a 16 years old female pediatric patient with ectodermal dysplasia. How to cite this article: Singh T, Singh R, Singh GP, Singh JP. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management. Int J Clin Pediatr Dent 2013;6(2):140-145. PMID:25206210

  14. Acute renal failure in the newborn.

    PubMed

    Andreoli, Sharon Phillips

    2004-04-01

    Acute renal failure in the newborn is a common problem and is typically classified as prerenal, intrinsic renal disease including vascular insults, and obstructive uropathy. In the newborn, renal failure may have a prenatal onset in congenital diseases such as renal dysplasia with or without obstructive uropathy and in genetic diseases such as autosomal recessive polycystic kidney disease. Acute renal failure in the newborn is also commonly acquired in the postnatal period because of hypoxic ischemic injury and toxic insults. Nephrotoxic acute renal failure in newborns is usually associated with aminoglycoside antibiotics and nonsteroidal anti-inflammatory medications used to close a patent ductus arteriosis. Alterations in renal function occur in approximately 40% of premature newborns who have received indomethacin and such alterations are usually reversible. Renal artery thrombosis and renal vein thrombosis will result in renal failure if bilateral or if either occurs in a solitary kidney. Cortical necrosis is associated with hypoxic/ischemic insults due to perinatal anoxia, placenta abruption and twin-twin or twin-maternal transfusions with resultant activation of the coagulation cascade. As in older children, hospital acquired acute renal failure is newborns is frequently multifactorial in origin. Although the precise incidence and prevalence of acute renal failure in the newborn is unknown, several studies have shown that acute renal failure is common in the neonatal intensive care unit. Recent interesting studies have demonstrated that some newborns may have genetic risks factors for acute renal failure. Once intrinsic renal failure has become established, management of the metabolic complications of acute renal failure continues to involve appropriate management of fluid balance, electrolyte status, acid-base balance, nutrition and the initiation of renal replacement therapy when appropriate. Renal replacement therapy may be provided by peritoneal dialysis

  15. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.

    PubMed

    Goumy, Carole; Laffargue, Fanny; Eymard-Pierre, Eléonore; Kemeny, Stéphen; Gay-Bellile, Mathilde; Gouas, Laetiti; Gallot, Denis; Francannet, Christine; Tchirkov, Andrei; Pebrel-Richard, Céline; Vago, Philippe

    2015-01-01

    Microdeletions of 17q12 encompassing TCF2 are associated with maturity-onset of diabetes of the young type 5, cystic renal disease, pancreatic atrophy, Mullerian aplasia in females and variable cognitive impairment. We report on a patient with a de novo 17q12 microdeletion, 1.8 Mb in size, associated with congenital diaphragmatic hernia (CDH). The 5-year-old male patient presented multicystic renal dysplasia kidneys, minor facial dysmorphic features and skeletal anomalies, but neither developmental delay nor behavioral abnormalities. CDH has been previously associated with the 17q12 microdeletion syndrome only in one prenatal case. The present study reinforces the hypothesis that CDH is part of the phenotype for 17q12 microdeletion and that 17q12 encompasses candidate(s) gene(s) involved in diaphragm development. We suggest that PIGW, a gene involved in an early step of GPI biosynthesis, could be a strong candidate gene for CDH.

  16. Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins.

    PubMed

    Dharnidharka, V R; Ruteshouser, E C; Rosen, S; Kozakewich, H; Harris, H W; Herrin, J T; Huff, V

    2001-03-01

    While a genetic basis for the association of developmental lung and kidney defects has been suspected, the involvement of specific genes in this process is under active investigation. We report such a possible genetic linkage present in identical twins with a mutant Wilms tumor (WT1) gene. Twin girls, born at 35 weeks gestation, manifested symptoms of congenital nephrotic syndrome, renal failure, and severe respiratory abnormalities refractory to assisted ventilation. Both died at 1 month of age. Renal biopsies and autopsy kidney tissue from both the girls revealed diffuse mesangial sclerosis (DMS). Autopsy lung tissue revealed pulmonary dysplasia and hypoplasia in both twins. The WT1 gene from renal tissue in both twins was analyzed for mutations using polymerase chain reaction (PCR) amplification and the single-strand conformation polymorphism (SSCP) technique. Both twins possessed an identical missense mutation in exon 8 of the WT1 gene, resulting in replacement of arginine by histidine at amino acid 366 (arg366his) in the WTI protein. This mutation has previously been described in Denys-Drash syndrome. The WT1 gene plays a role in mesenchymal epithelial (ME) interactions in the developing urogenital system, and possibly has a similar role during lung morphogenesis. We propose that this WT1 gene mutation contributes to both DMS and developmental pulmonary abnormalities by altering ME interactions in both organs.

  17. Craniofacial fibrous dysplasia: A 10-case series.

    PubMed

    Couturier, A; Aumaître, O; Gilain, L; Jean, B; Mom, T; André, M

    2017-09-01

    Fibrous dysplasia of bone is a rare sporadic benign congenital condition in which normal cancellous bone is replaced by fibro-osseous tissue with immature osteogenesis. Sarcomatous transformation is exceptional. Lesions may involve one bone (monostotic) or several (polyostotic). Fibrous dysplasia may be associated with café-au-lait skin macules and endocrinopathy in McCune-Albright syndrome, or with myxoma in Mazabraud's syndrome. We report ten cases of patients followed up for craniofacial fibrous dysplasia in our center between 2010 and 2015. Mean age was 43 years (range, 10-72 years). Clinical symptoms comprised headache (n=3) and sensorineural disorder: recurrent anterior uveitis (n=1), visual acuity loss, epiphora and vestibular syndrome (n=1), and hearing loss (n=1). All cases were monostotic. The sphenoid bone was most commonly involved (n=5), followed by the ethmoid (n=1), frontal (n=1), fronto-ethmoid (n=1), temporal (n=1) and fronto-ethmoido-sphenoid (n=1) bones. Five patients were treated with intravenous pamidronate, a bisphosphonate: evolution was favorable for 3 of them at 1-6 months after treatment initiation, with resolution of headache or vestibular syndrome; the other 2 patients were stable. Two patients were operated on. Diagnosis of craniofacial fibrous dysplasia should be considered in case of headache, neuralgia, sensory disorder, functional disorder or infectious ENT complications. A medico-surgical approach is useful for these patients. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. [Acute renal failure due to obstructive ureteral stone associated with norovirus gastroenteritis in an infant with congenital solitary kidney].

    PubMed

    Kato, Taiki; Hamano, Atsushi; Kawamura, Hideki

    2014-10-01

    We report a 35 month-old boy with acute renal failure caused by an obstructive ureteral stone associated with norovirus gastroenteritis. He visited his family physician because of fever, abdominal pain and vomiting. He was diagnosed as acute gastroenteritis. The symptoms relieved once, but abdominal pain and vomiting recurred two days after the visit and the volume of urine decreased. He was diagnosed as norovirus gastoenteritis and acute renal failure which was unresponsive to fluid replacement. Ultrasound study of the abdomen showed a solitary kidney with mild hydronephrosis. He was then admitted to our hospital. He was finally diagnosed as acute postrenal failure due to obstructive ureteral stone with left solitary kidney by abdominal computer tomography (CT). We performed transurethral catheterization immediately. The creatinine and blood urea nitrogen returned to normal level in 2 days. The CT performed on the 28th day post operation showed disappearance of the stone after uric alkalization. Recently, some cases of postrenal failure due to bilateral obstructive ureteral stones, mainly ammonium acid urate stones, associated with viral gastroenteritis were reported. As clinical features, they are common in boys three years or younger after an episode of rotavirus gastroenteritis with high uric acid concentration. By far, the most common cause of acute renal failure in patients with severe gastroenteritis is prerenal failure resulting from hypovolemia. But postrenal cause due to bilateral obstructive stones should be taken in a consideration.

  19. Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome).

    PubMed

    Ellis, D S; Heckenlively, J R; Martin, C L; Lachman, R S; Sakati, N A; Rimoin, D L

    1984-02-01

    Three affected children (a 13-year-old girl and her 7- and 8-year-old brothers) in a sibship of eight had findings consistent with the Saldino-Mainzer syndrome (skeletal dysplasia associated with Leber's congenital amaurosis, familial juvenile nephronophthisis, and cone-shaped epiphyses of the hands). Two also had pigmented midline nevi. Although tapetoretinal degeneration and familial juvenile nephronophthisis are associated in the inherited Senior-Loken syndrome, the rare association of these abnormalities with cone-shaped epiphyses of the hands suggested an autosomal recessive syndrome with variable expression remarkably similar to the Saldino-Mainzer syndrome, which may or may not be distinct from the Senior-Loken syndrome. The association of tapetoretinal degeneration with skeletal dysplasia may indicate asymptomatic renal or hepatic disease.

  20. Conservative management of a congenital seminal vesicle cyst associated with ipsilateral renal agenesis revealed by cystitis: one case report.

    PubMed

    Ahallal, Youness; Tazi, Mohammed Fadl; Khallouk, Abdelhak; Elammari, Jalaleddine; Elfassi, Mohammed Jamal; Farih, Moulay Hassan

    2011-01-01

    Seminal vesicle cyst is an extremely rare disease. Its association with ipsilateral renal agenesis is even more exceptional. We present herein one case of a 16-year-old male who presented with a four-month history of lower urinary tract symptoms (LUTSs) and micturition pain. The digital rectal examination revealed a small mass arising from the prostate. The urine culture showed that E. coli is sensitive to all antibiotics tested. Transrectal ultrasound (TRUS) revealed a cystic mass in the outer prostate. Seminal vesicle cyst and left renal agenesis were confirmed by magnetic resonance imaging (MRI). Maximum flow (Q(max)) at uroflow was greater than 15 mL/sec. We therefore decided to manage this disease conservatively with alpha blockers and antibiotics. After 6-month' followup the patient did not report any complain and the uroflow test was similar to a normal urination. From one case report and literature review, the authors suggest a diagnostic and therapeutic strategy for the management of this rare condition.

  1. Conservative Management of a Congenital Seminal Vesicle Cyst Associated with Ipsilateral Renal Agenesis Revealed by Cystitis: One Case Report

    PubMed Central

    Ahallal, Youness; Tazi, Mohammed Fadl; Khallouk, Abdelhak; Elammari, Jalaleddine; Elfassi, Mohammed Jamal; Farih, Moulay Hassan

    2011-01-01

    Seminal vesicle cyst is an extremely rare disease. Its association with ipsilateral renal agenesis is even more exceptional. We present herein one case of a 16-year-old male who presented with a four-month history of lower urinary tract symptoms (LUTSs) and micturition pain. The digital rectal examination revealed a small mass arising from the prostate. The urine culture showed that E. coli is sensitive to all antibiotics tested. Transrectal ultrasound (TRUS) revealed a cystic mass in the outer prostate. Seminal vesicle cyst and left renal agenesis were confirmed by magnetic resonance imaging (MRI). Maximum flow (Qmax) at uroflow was greater than 15 mL/sec. We therefore decided to manage this disease conservatively with alpha blockers and antibiotics. After 6-month' followup the patient did not report any complain and the uroflow test was similar to a normal urination. From one case report and literature review, the authors suggest a diagnostic and therapeutic strategy for the management of this rare condition. PMID:22606606

  2. Ghosal Type Hematodiaphyseal Dysplasia.

    PubMed

    Jeevan, Amrit; Doyard, Mathilde; Kabra, Madhulika; Daire, Valerie Cormier; Gupta, Neerja

    2016-04-01

    Ghosal Type Hematodiaphyseal Dysplasia is an autosomal recessive disorder characterized by refractory anemia and diaphyseal bone dysplasia. A 3 y 9 mo-old male child presented with progressive anemia and bowing of thighs. Child was found to have a previously reported homozygous point mutation c.1238G>A, (p.Arg413Glu) in Exon 16 of TBXAS1 gene. Low dose steroid therapy resulted in normalization of hemoglobin and prevented further progression of bony changes. Refractory anemia in association with bony deformities should prompt pediatricians to investigate for inherited bony dysplasia.

  3. Living with Bronchopulmonary Dysplasia

    MedlinePlus

    ... Living With Bronchopulmonary Dysplasia Caring for a premature infant can be challenging. You may have: Emotional pain, ... tiredness). Frustration that you can't breastfeed your infant right away. (You can pump and store your ...

  4. Cervical dysplasia - series (image)

    MedlinePlus

    Conization is a procedure in which a "cone" of tissue is removed. This procedure is performed for more advanced cervical dysplasia, which remains limited to the cervix (cervical intraepithelial neoplasia, high ...

  5. Cervical Dysplasia: Is It Cancer?

    MedlinePlus

    ... showed cervical dysplasia. What does that mean? Is it cancer? Answers from Shannon K. Laughlin-Tommaso, M. ... or glandular cells. Dysplasia could go away on its own. Or, rarely, it could develop into cancer. ...

  6. Genetics Home Reference: craniometaphyseal dysplasia

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions craniometaphyseal dysplasia craniometaphyseal dysplasia Enable ...

  7. Genetics Home Reference: oculodentodigital dysplasia

    MedlinePlus

    ... particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are ... area? Other Names for This Condition oculo-dento-digital dysplasia oculo-dento-osseous dysplasia oculodentodigital syndrome oculodentoosseous ...

  8. Developmental Dysplasia of the Hip

    MedlinePlus

    ... to 2-Year-Old Developmental Dysplasia of the Hip KidsHealth > For Parents > Developmental Dysplasia of the Hip A A A What's in this article? What ... Symptoms Diagnosis Treatment Outlook Developmental dysplasia of the hip (DDH) is a problem with the way a ...

  9. Management of Congenital Chest Wall Deformities

    PubMed Central

    Blanco, Felix C.; Elliott, Steven T.; Sandler, Anthony D.

    2011-01-01

    Congenital chest wall deformities are considered to be anomalies in chest wall growth. These can be categorized as either rib cage overgrowth or deformities related to inadequate growth (aplasia or dysplasia). Rib cage overgrowth leads to depression of the sternum (pectus excavatum) or protuberance of the sternum (pectus carinatum) and accounts for greater than 90% of congenital chest wall deformities. The remaining deformities are a result of inadequate growth. Evolution in the management of congenital chest wall deformities has made significant progress over the past 25 years. This article will review chest wall deformities and the current management strategies of these interesting anomalies. PMID:22294949

  10. Frontal Lobe Lipoma Associated with Cortical Dysplasia and Abnormal Vasculature

    PubMed Central

    Baskan, Ozdil; Geyik, Serdar

    2014-01-01

    Summary Intracranial lipomas (ICLs) are rare lesions, the vast majority encountered as incidental findings on imaging studies. ICLs are generally pericallosal midline lesions and thought to be asymptomatic and can be accompanied by additional intracranial congenital malformations. We describe a 17-year old male with an unusual case of ICL on the frontal lobe associated with cortical dysplasia and abnormal vasculature mimicking arteriovenous malformation on magnetic resonance images. PMID:25489889

  11. [Ovarian epithelial dysplasia: Description of a dysplasia scoring scheme].

    PubMed

    Chene, Gautier; Dauplat, Jacques; Raoelfils, Ines; Bignon, Yves-Jean; Cayre, Anne; Jaffeux, Patricia; Aublet-Cuvelier, Bruno; Pomel, Christophe; Penault-Llorca, Frédérique

    2011-02-01

    Precancerous ovarian epithelial dysplasia was first described after prophylactic oophorectomy (OP) for genetic risk (BRCA mutation) or because of a strong family history of ovarian and/or breast cancer. The objective of this study was to describe histopathological features of ovarian dysplasia and to propose a dysplasia scoring sheme with a cut-off. One hundred and twenty-five bilateral oophorectomies (genetic predisposition: n=35 and control group: n=90) were reviewed by two pathologists blinded to clinical data. Eleven epithelial cytological and architectural features were studied and an ovarian dysplasia score was defined to compare the degree of ovarian epithelial abnormalities between the two groups. Mean ovarian dysplasia score was significantly higher in prophylactic oophorectomy group than in control group (9.0 versus 3.5, P<0.001). Dysplasia was more severe in OP with BRCA mutation than in OP without (11.6 in BRCA 1; 7.6 in BCRA 2; 7.1 in family history). The cut off for dysplasia was 8 with a sensitivity of 60% and a specificity of 93.3%. The increased dysplasia score in OP and the gradation in dysplastic severity in OP with proven BRCA mutations may suggest that ovarian dysplasia could be a pre-malignant non invasive histopathological lesion. The 11 cytological and architectural features in the dysplasia scoring sheme could be a useful tool to study ovarian dysplasia. Copyright © 2010 Elsevier Masson SAS. All rights reserved.

  12. Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review.

    PubMed

    Zhao, Qing-Hong; Shi, Hua; Hu, Jia-Qi; Wang, Dan; Fang, Gui; Zhang, Yu-Guo; Wang, Yan-Qing; Yang, Jing

    2017-02-01

    Congenital skeletal deformity of fetus varies and may be attributed to a range of reasons. Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly. The disease brings great pain to victim and their family. We reviewed the fetal prenatal ultrasonic data conducted during period from Jan. 2013 to June 2016, and there were 84 fetuses with skeletal abnormalities among 12 000 cases, and 3 fetuses with thanatophoric dysplasia. Our report described and reviewed three common types of thanatophoric dysplasia, aiming to explore the value of standardized prenatal ultrasonic diagnosis of fetal abnormalities in the skeletal system.

  13. Congenital oligodontia of the deciduous teeth and anodontia of the permanent teeth in a cat.

    PubMed

    Vieira, Ana Luiza S; Ocarino, Natalia de M; Boeloni, Jankerle N; Serakides, Rogeria

    2009-02-01

    This report describes a rare case of congenital oligodontia of the deciduous teeth and anodontia of the permanent teeth in a cat. According to cat's veterinarian, the patient had only two deciduous upper canines and no permanent teeth had ever erupted. Post-mortem evaluation showed a complete absence of teeth in the oral cavity and inflammatory lesions were not found on the gums. Histopathological analysis of serial sections of maxilla and mandible revealed absence of odontogenic epithelium, inflammatory cells and odontoclastic resorptive lesions. Diagnosis was confirmed after both the establishment that there were no remaining dental structures and the exclusion of other relevant diseases that lead to tooth loss, such as periodontal disease, renal fibrous osteodystrophy, odontoclastic resorptive lesions, ectodermal dysplasia and trauma.

  14. Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract

    PubMed Central

    Uy, Natalie; Reidy, Kimberly

    2015-01-01

    Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects and the leading cause of end-stage renal disease in children. There is a wide spectrum of renal abnormalities, from mild hydronephrosis to more severe cases, such as bilateral renal dysplasia. The etiology of the majority of cases of CAKUT remains unknown, but there is increasing evidence that genomic imbalance contributes to the pathogenesis of CAKUT. Advances in human and mouse genetics have contributed to increased understanding of the pathophysiology of CAKUT. Mutations in genes involved in both transcription factors and signal transduction pathways involved in renal development are associated with CAKUT. Large cohort studies suggest that copy number variants, genomic, or de novo mutations may explain up to one-third of all cases of CAKUT. One of the major challenges to the use of genetic information in the clinical setting remains the lack of strict genotype–phenotype correlation. However, identifying genetic causes of CAKUT may lead to improved diagnosis of extrarenal complications. With the advent of decreasing costs for whole genome and exome sequencing, future studies focused on genotype–phenotype correlations, gene modifiers, and animal models of gene mutations will be needed to translate genetic advances into improved clinical care. PMID:27617142

  15. New non-renal congenital disorders associated with medullary sponge kidney (MSK) support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers.

    PubMed

    Ria, Paolo; Fabris, Antonia; Dalla Gassa, Alessandra; Zaza, Gianluigi; Lupo, Antonio; Gambaro, Giovanni

    2016-08-29

    Medullary sponge kidney (MSK) is a congenital renal disorder. Its association with several developmental abnormalities in other organs hints at the likelihood of some shared step(s) in the embryogenesis of the kidney and other organs. It has been suggested that the REarranged during Transfection (RET) proto-oncogene and the Glial cell line-Derived Neurotrophic Factor (GDNF) gene are defective in patients with MSK, and both RET and GDNF are known to have a role in the development of the central nervous system, heart, and craniofacial skeleton. Among a cohort of 143 MSK patients being followed up for nephrolithiasis and chronic kidney disease at our institution, we found six with one or more associated non-renal anomalies: one patient probably has congenital hemihyperplasia and hypertrophic cardiomyopathy with adipose metaplasia and mitral valve prolapse; one has Marfan syndrome; and the other four have novel associations between MSK and nerve and skeleton abnormalities described here for the first time. The discovery of disorders involving the central nervous system, cardiovascular system and craniofacial skeleton in MSK patients supports the hypothesis of a genetic alteration on the RET-GDNF axis having a pivotal role in the pathogenesis of MSK, in a subset of patients at least. MSK seems more and more to be a systemic disease, and the identification of extrarenal developmental defects could be important in arousing the suspicion of MSK in recurrent stone formers.

  16. [Hemorrhagic bilateral renal angiomyolipoma].

    PubMed

    Benjelloun, Mohamed; Rabii, Redouane; Mezzour, Mohamed Hicham; Joual, Abdenbi; Bennani, Saâd; el Mrini, Mohamed

    2003-09-01

    Renal angiomyolipoma is a rare benign tumour, often associated with congenital diseases especially de Bourneville's tuberous sclerosis. Bilateral angiomyolipoma is exceptional. The authors report a case of bilateral renal angiomyolipoma in a 33-year-old patient presenting with haemorrhagic shock. In the light of this case and a review of the literature, the authors discuss the diagnostic and therapeutic aspects of this disease.

  17. Compensatory Growth of Congenital Solitary Kidneys in Pigs Reflects Increased Nephron Numbers Rather Than Hypertrophy

    PubMed Central

    van Vuuren, Stefan H.; Sol, Chalana M.; Broekhuizen, Roel; Lilien, Marc R.; Oosterveld, Michiel J. S.; Nguyen, Tri Q.

    2012-01-01

    Background Patients with unilateral MultiCystic Kidney Dysplasia (MCKD) or unilateral renal agenesis (URA) have a congenital solitary functioning kidney (CSFK) that is compensatory enlarged. The question whether this enlargement is due to increased nephron numbers and/or to nephron hypertrophy is unresolved. This question is of utmost clinical importance, since hypertrophy is associated with a risk of developing hypertension and proteinuria later in life with consequent development of CKD and cardiovascular disease. Methodology/Principal Findings In a cohort of 32,000 slaughter pigs, 7 congenital solitary functioning kidneys and 7 control kidneys were identified and harvested. Cortex volume was measured and with a 3-dimensional stereologic technique the number and volume of glomeruli was determined and compared. The mean total cortex volume was increased by more than 80% and the mean number of glomeruli per kidney was 50% higher in CSFKs than in a single control kidney, equaling 75% of the total nephron number in both kidneys of control subjects. The mean total glomerular volume in the CSFKs was not increased relative to the controls. Conclusions/Significance Thus, in pigs, compensatory enlargement of a CSFK is based on increased nephron numbers. Extrapolation of these findings to the human situation suggests that patients with a CSFK might not be at increased risk for developing hyperfiltration-associated renal and cardiovascular disease in later life due to a lower nephron number. PMID:23185419

  18. Renal outcome in adults with renal insufficiency and irregular asymmetric kidneys

    PubMed Central

    Neild, Guy H; Thomson, Gill; Nitsch, Dorothea; Woolfson, Robin G; Connolly, John O; Woodhouse, Christopher RJ

    2004-01-01

    Background The commonest cause of end-stage renal failure (ESRF) in children and young adults is congenital malformation of the kidney and urinary tract. In this retrospective review, we examine whether progression to ESRF can be predicted and whether treatment with angiotensin converting enzyme inhibitors (ACEI) can delay or prevent this. Methods We reviewed 78 patients with asymmetric irregular kidneys as a consequence of either primary vesico-ureteric reflux or renal dysplasia (Group 1, n = 44), or abnormal bladder function (Group 2, n = 34). Patients (median age 24 years) had an estimated GFR (eGFR) < 60 ml/min/1.73 m2 with at least 5 years of follow up (median 143 months). 48 patients received ACEI. We explored potential prognostic factors that affect the time to ESRF using Cox-regression analyses. Results At start, mean (SE) creatinine was 189 (8) μmol/l, mean eGFR 41 (1) ml/min 1.73 m2, mean proteinuria 144 (14) mg/mmol creatinine (1.7 g/24 hrs). Of 78 patients, 36 (46%) developed ESRF, but none of 19 with proteinuria less than 50 mg/mmol and only two of 18 patients with eGFR above 50 ml/min did so. Renal outcome between Groups 1 and 2 appeared similar with no evidence for a difference. A benefit in favour of treatment with ACEI was observed above an eGFR of 40 ml/min (p = 0.024). Conclusion The similar outcome of the two groups supports the nephrological nature of progressive renal failure in young men born with abnormal bladders. There is a watershed GFR of 40–50 ml/min at which ACEI treatment can be successful at improving renal outcome. PMID:15462683

  19. [Radionuclide studies of congenital kidney abnormalities].

    PubMed

    Vlakhov, N

    1984-06-01

    Using the potentialities of isotope nephrograms as a screening test a total of 4746 patients suspected of renal abnormalities were examined. The author established pathological deviations in 561 cases (11.8%). During further verification using scintigraphy unsuspected congenital renal abnormalities (aplasia, hypoplasia, dystopia, double kidney, horseshoe kidney, solitary cyst and polycystic renal disease) were found in 46 patients (8.2%). The diagnosis was confirmed at subsequent venous x-ray urography. A conclusion has been made as to the role of comprehensive nephrographic-scintigraphic examination in the diagnosis of congenital renal abnormalities.

  20. Retinal manifestations in fibromuscular dysplasia.

    PubMed

    Meire, F M; De Laey, J J; Van Thienen, M N; Schuddinck, L

    1991-01-01

    Fibromuscular dysplasia of the arteries (FMD) is a segmental angiopathy which may produce obstruction of the carotid, cerebral, renal, mesenteric, coronary or iliac arteries. Except for lesions related to arterial hypertension, retinal manifestations have not yet been reported. This paper describes the case of a 10-year-old boy with progressive deafness, a history of an unexplained stroke and progressive occlusions of the retinal arterioles in the fundus periphery. This resulted in retinal neovascularization and recurrent retinal and vitreous hemorrhages. Despite repeated photo- and cryocoagulation the eyes progressed to a tractional retinal detachment which was successfully treated by vitrectomy and scleral buckling. The diagnosis of FMD was made on the basis of a histopathological examination of a temporal artery biopsy. The child also presented an asymptomatic but severe aneurysmal dilatation of the aorta and CT scan and MRI showed dilated cerebral arteries. The father of our patient had died at the age of 27 years either from myocardial infarction or rupture of a dissecting aortic aneurysm. He was highly myopic and had lost one eye from retinal detachment. The younger brother of our patient also presents aneurysmal dilatation of the aorta and tortuous cerebral vessels. Ocular examination is still normal. The findings in this family are compatible with an autosomal dominant inheritance with variable expression.

  1. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  2. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  3. [Hip dysplasia in adolescence].

    PubMed

    Barthès, X; Seringe, R

    1995-01-01

    Hip growth continues on till adolescence with the fusion of the different ossification centers. Does this growth exist in hip dysplasia? What is the role of surgery at adolescence? Is an additional varus osteotomy indicated with a pelvic osteotomy? Clinical and radiological criteria of adolescent hip dysplasia were studied in a series of 18 patients (mean age 12 years). The 28 hips were divided into 4 groups depending on the treatment: non operated hips (group 1, N = 8), hips operated on only by pelvic osteotomy (group 2, N = 8), hips operated on by combined pelvic and femoral osteotomies (group 3, N = 9), and hips operated on only by femoral osteotomy (group 4, N = 3). Tonnis's clinical criteria were used. The acetabular index of the weight bearing zone, the center-edge angle of Wiberg, the acetabular angle of Idelberger and Frank, the neck-shaft angle, the head coverage index were measured and compared between the 4 groups (average follow-up was 46 months). We noted continuation of growth of the acetabulum at adolescence with a correction of moderate hip dysplasia when the head was covered (group 1), the acetabular index of the weight-bearing zone decreased from 20.1 degrees to 11.1 degrees; the center-edge angle of Wiberg increased from 15.25 degrees to 23 degrees. The comparison of groups 2 and 3 showed that an additional femoral osteotomy does not change significantly the radiologic results. Does surgery benefit at adolescence from the growth which exists during this period? The clinical results and the evolution of arthrosis following a Chiari pelvic osteotomy are better when the operation is performed early. A pelvic osteotomy is indicated in symptomatic hips, when the congruity is abnormal, with deficient head coverage, as well as moderate dysplasia when the evolution of the acetabular parameters are not satisfactory. A femoral osteotomy in addition to a pelvic osteotomy does not seem justified.

  4. Imaging of craniofacial fibrous dysplasia.

    PubMed

    Lisle, D A; Monsour, P A J; Maskiell, C D

    2008-08-01

    Fibrous dysplasia is a relatively common disorder of bone. It may affect the bones of the face and skull and, in so doing, produce a wide variety of clinical presentations. Plain film assessment of craniofacial fibrous dysplasia may be difficult because of varying appearances and complex, overlapping structures. The MRI appearances of fibrous dysplasia are often non-specific and may be confusing. Findings on CT are also variable, but more commonly lead to a specific diagnosis. This is because of the characteristic ground-glass appearance of woven bone, seen on CT in most if not all cases of craniofacial fibrous dysplasia.

  5. Familial ectodermal dysplasia: a peers’ agony

    PubMed Central

    Hegde, Karthik; Kashyap, Roopashri Rajesh; Nair, Gopakumar; Nair, Preeti P

    2013-01-01

    Ectodermal dysplasias include a various group of inherited disorders which share primary defect in the development of two or more tissues of embryonic ectodermal origin. Though there are many subtypes, ectodermal dysplasias are mainly hidrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia, among which the most common variety is X linked hypohidrotic ectodermal dysplasia. We report a rare case of X linked hypohidrotic ectodermal dysplasia occurring in a family with various skin, hair and oral abnormalities. PMID:23880572

  6. Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery.

    PubMed

    Hernando, Mónica; Urbasos, María; Amarillo, Viviana Elizabeth; Herrera, María Teresa; García-Peces, Victoria; Plaza, Guillermo

    2014-04-01

    We describe a case with Wildervanck syndrome (cervico-oculo-acoustic syndrome) comprising Klippel-Feil anomaly, retractio bulbi (Duane syndrome), and congenital sensorineural deafness. An 18-month male baby had a severe inner ear dysplasia, and MRI also showed a complex vascular carotid malformation associated.

  7. Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.

    PubMed

    Rossi, A; Miraglia, E; Fortuna, M C; Calvieri, S; Giustini, S

    2017-02-01

    Ectodermal dysplasia is a clinically and genetically heterogeneous group of inherited disorders characterized by abnormal development of two or more of the following ectodermal-derived structures: hair, teeth, nails and sweat glands. The hair is the most frequently affected structure. Hair shaft abnormalities are of great concern to these patients, but no effective treatments are available. We describe three girls with congenital hypotrichosis (9, 5 and 6 years old) caused by ectodermal dysplasia treated with topical cetirizine solution (2 mL. once daily) and oral vitamin D supplementation (1000 IU daily). After 6 months of treatment, the density of hair on the scalp increased in all patients. The vellus hair was replaced by terminal hair. Hair regrowth was evaluated both from the clinical and trichoscopic point of view. We propose a combination of topical cetirizine and oral vitamin D as a rational treatment of choice in congenital hypotrichosis caused by ectodermal dysplasia. © 2016 European Academy of Dermatology and Venereology.

  8. The Epidemiology and Demographics of Hip Dysplasia

    PubMed Central

    Loder, Randall T.; Skopelja, Elaine N.

    2011-01-01

    The etiology of developmental dysplasia of the hip (DDH) is unknown. There are many insights, however, from epidemiologic/demographic information. A systematic medical literature review regarding DDH was performed. There is a predominance of left-sided (64.0%) and unilateral disease (63.4%). The incidence per 1000 live births ranges from 0.06 in Africans in Africa to 76.1 in Native Americans. There is significant variability in incidence within each racial group by geographic location. The incidence of clinical neonatal hip instability at birth ranges from 0.4 in Africans to 61.7 in Polish Caucasians. Predictors of DDH are breech presentation, positive family history, and gender (female). Children born premature, with low birth weights, or to multifetal pregnancies are somewhat protected from DDH. Certain HLA A, B, and D types demonstrate an increase in DDH. Chromosome 17q21 is strongly associated with DDH. Ligamentous laxity and abnormalities in collagen metabolism, estrogen metabolism, and pregnancy-associated pelvic instability are well-described associations with DDH. Many studies demonstrate an increase of DDH in the winter, both in the northern and southern hemispheres. Swaddling is strongly associated with DDH. Amniocentesis, premature labor, and massive radiation exposure may increase the risk of DDH. Associated conditions are congenital muscular torticollis and congenital foot deformities. The opposite hip is frequently abnormal when using rigorous radiographic assessments. The role of acetabular dysplasia and adult hip osteoarthritis is complex. Archeological studies demonstrate that the epidemiology of DDH may be changing. PMID:24977057

  9. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  10. Evolution of the term and definition of dysplasia of the hip - a review of the literature.

    PubMed

    Musielak, Bartosz; Idzior, Maciej; Jóźwiak, Marek

    2015-10-12

    There is no consensus on the definition of dysplasia of the hip (DH). Past and present concepts used to describe DH do not form a complete view of the pathology. Moreover, some authors still present the disease as congenital, not developmental. This prompted authors to analyze the evolution of the definition of DH. Based on the biomedical databases 500 articles and books in the field of hip dysplasia were found and analyzed. Fifteen definitions of hip dysplasia met inclusion criteria, subsequently were analyzed and presented in chronological order. The analysis revealed that currently there is no single, universal definition of hip dysplasia in the aspect of morphological, clinical, and radiological studies. Despite the widely-used term of DH, it is described imprecisely and in different ways. Therefore, it is necessary to develop a multidisciplinary definition of this pathology covering all aspects of hip disorders considered valid in modern orthopaedics.

  11. Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

    PubMed

    Tonni, Gabriele; Palmisano, Marcella; Lituania, Mario; Grisolia, Gianpaolo; Baffico, Ave Maria; Bonasoni, Maria Paola; Pattacini, Pierpaolo; De Felice, Claudio; Araujo Júnior, Edward

    2016-12-01

    Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies. We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management. Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology. The first case was a typical campomelic dysplasia resulting from a de novo mutation in the SOX9 gene. The second fetus was affected by osteogenesis imperfecta Type II carrying a mutation in the COLA1 gene. The third case was a rare presentation of campomelic dysplasia, Cumming type, in which SOX9 examination was normal. Subsequently, a femoral hypoplasia unusual facies syndrome is also discussed. Targeted molecular tests and genetic counseling are required for supplementing ultrasound imaging in order to diagnose the correct skeletal disorders. Copyright © 2016. Published by Elsevier B.V.

  12. Congenital glaucoma in cutis marmorata teleangiectatica congenita.

    PubMed

    Mayatepek, E; Krastel, H; Völcker, H E; Pfau, B; Almasan, K

    1991-01-01

    A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.

  13. Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

    PubMed

    Aghabiklooei, A; Goodarzi, P; Kariminejad, Mohammad H

    2009-11-01

    To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

  14. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  15. Congenitally absent lumbar pedicle: a reappraisal

    SciTech Connect

    Wortzman, G.; Steinhardt, M.I.

    1984-09-01

    Three patients who had a diagnosis of congenitally absent lumbar pedicle underwent CT examination. Findings showed that each patient had an aberrant hypoplastic pedicle plus a retroisthmic defect in their ipsilateral lamina rather than an absent pedicle. Axial CT was the diagnostic modality of choice; reformated images were of little value. The differential diagnosis to be considered from the findings of plain film radiography includes pediculate thinning, neoplastic disease, neurofibroma, mesodermal dysplasia associated with neurofibromatosis, and vascular anomalies.

  16. Skeletal Dysplasias: An Overview.

    PubMed

    Offiah, Amaka C

    2015-01-01

    Constitutional disorders of bone, commonly termed skeletal dysplasias (SDs), are inherited disorders of cartilage and/or bone that affect their growth, morphometry and integrity. Associated skeletal abnormalities are usually but not invariably symmetrical. They may be classified as osteochondrodysplasias, which are conditions associated with abnormalities of the growth (dysplasias) or texture (osteodystrophy) of bone and/or cartilage, or dysostoses, which are conditions secondary to abnormal blastogenesis (occurring at or around the 6th week of in utero life). Skeletal involvement may also occur in other multisystem hereditary and acquired syndromes. The 2010 Nosology and Classification of Genetic Skeletal Disorders listed 456 conditions, of which approximately 50 are perinatally lethal, and 316 are associated with one or more of 226 genes. When an SD is suspected, a standard series of radiographs, collectively known as a skeletal survey, should be performed. The diagnosis of individual conditions is highly dependent on radiographic pattern recognition, which is achieved through a systematic review of the images and enhanced by discussion with colleagues and through the use of available tools, such as atlases and digital databases. This article summarises a systematic approach to the diagnosis of SDs, demonstrated using examples of some of the more common lethal and non-lethal conditions. © 2015 S. Karger AG, Basel.

  17. [Arrhythmogenic right ventricular dysplasia].

    PubMed

    Maia, I G; Sá, R; Bassan, R; Alves, P; Ribeiros, J C; Loyola, L H; Cruz Filho, F E; Valverde, A; Belém, L

    1991-08-01

    To evaluate the clinical findings and complementary investigation to support the diagnosis of arrhythmogenic right ventricular dysplasia. Six males with a mean age of 40 years old with episodes of sustained ventricular tachycardia with left bundle branch block pattern. All patients were submitted to a clinical investigation, EKG X rays and echocardiograms. In five patients an electrophysiologic study was performed. All patients were treated with anti-arrhythmic drugs. Palpitation was the most common complaint. T-wave inversion in leads V1-V3 was present in 4 patients. An epsilon wave was noted in 2 patients. The chest X ray was abnormal in only 1 patient. All patients had an abnormal echocardiogram, with consisted in the dilatation of the outflow tract of the RV and hypocontractility. In 2 patients aneurysm of the basal RV free wall below tricuspid valve were detected. Ventricular post-excitation waves were present in 4 patients. After a mean follow-up of 37 months, 5 patients were asymptomatic with anti-arrhythmic drugs and one in therapeutic adjustment. In patients with ventricular tachycardia with left bundle branch block pattern, the diagnosis of arrhythmogenic right ventricular dysplasia was substantiated by echocardiographic data and electrocardiographic findings such a T-wave inversion during sinus rhythm and ventricular post-excitation waves. The results obtained with anti-arrhythmic drugs in our study group, suggest that drug therapy should be the first and best approach to treat patients with this type of pathology.

  18. Patient Symptomatology in Anal Dysplasia.

    PubMed

    Hicks, Caitlin W; Wick, Elizabeth C; Leeds, Ira L; Efron, Jonathan E; Gearhart, Susan L; Safar, Bashar; Fang, Sandy H

    2015-06-01

    High-resolution anoscopy (HRA) is becoming increasingly advocated as a method of screening for anal dysplasia in high-risk patients. To describe, through HRA findings, the association between patient symptomatology and anal dysplasia among patients at high risk for anal dysplasia. Univariable and multivariable analyses were conducted of data from a prospectively maintained HRA database on all patients undergoing HRA with biopsy from November 1, 2011, to March 13, 2014, at a tertiary care HRA clinic. Data included demographics, medical history and comorbidities, HIV status and related measures (CD4 cell counts, HIV viral load, and use of highly active antiretroviral therapy), sexual orientation (when available), patient symptoms at initial presentation, physical examination findings, anal Papanicolaou (Pap) smear findings. High-resolution anoscopy diagnosis of high- vs low-grade dysplasia or no dysplasia. One hundred sixty-one HRA biopsy specimens (mean [SEM], 1.77 [0.11] biopsy specimens per patient) were obtained from 91 patients (mean [SEM] age, 45.7 [1.2] years; 61 men [67%]; 47 black patients [52%]; and 70 human immunodeficiency virus-positive patients [77%]). Twenty-seven patients (30%) had high-grade dysplasia, 26 had low-grade dysplasia (29%), and 38 had no dysplasia (42%). The majority of patients (63 [69%]) were asymptomatic (anal pain, 11 [12%]; bleeding, 14 [15%]; and pruritus, 10 [11%]). Forty-one patients (45%) presented with anal pain (odds ratio, 5.25; 95% CI, 1.44-21.82; P = .02), and patients with either high- or low-grade dysplasia were more likely to present with anal lesions on physical examination compared with patients without dysplasia (odds ratio, 4.34; 95% CI, 1.78-11.20; P = .002). Multivariable analysis suggested that anal pain was independently associated with high-grade dysplasia (odds ratio, 6.42; 95% CI, 1.18-43.3; P = .03). Anal dysplasia is a silent disease that is frequently asymptomatic. However, patients with anal

  19. Arterial spasm during renal angioplasty

    SciTech Connect

    Beinart, C.; Sos, T.A.; Saddekni, S.; Weiner, M.A.; Sniderman, K.W.

    1983-10-01

    Spasm of the renal arteries during transluminal angioplasty is a well-documented phenomenon with serious potential sequelae, particularly in young patients with fibromusclar dysplasia. The authors report their experience in 98 cases (105 arteries). Tolazoline, lidocaine, nitrates (or calcium blockers, if available), and heparin should be administered either directly into the renal artery or systemically prior to angioplasty to decrease the incidence and severity of spasm.

  20. Systemic Hypertension and Transient Ischemic Attack in a 6-Year-Old Girl with Fibromuscular Dysplasia Treated with Percutaneous Angioplasty

    SciTech Connect

    Foa-Torres, Gustavo; Ganame, Javier; Juaneda, Ernesto; Peirone, Alejandro; Barcudi, Maria Silvina; Achaval, Alberto

    2010-02-15

    We describe a 6-year-old girl with arterial hypertension secondary to fibromuscular dysplasia with stenoses of both renal arteries and transient ischemic attack due to extracranial right internal carotid artery subtotal occlusion as well as left internal carotid artery stenosis. She was treated with percutaneous angioplasty of both renal and both carotid arteries.

  1. Use of pimobendan in feline congenital heart failure.

    PubMed

    Wainberg, Shannon

    2013-12-01

    A 6-month-old domestic shorthair cat was referred for evaluation of sudden lethargy and tachypnea following ovariohysterectomy. Upon failure of improvement with supportive care, a cardiologist identified congenital tricuspid dysplasia with signs of heart failure. Furosemide, enalapril, and pimobendan were used to reduce clinical signs and improve length and quality of life.

  2. Coronary Artery Manifestations of Fibromuscular Dysplasia

    PubMed Central

    Michelis, Katherine C.; Olin, Jeffrey W.; Kadian-Dodov, Daniella; d’Escamard, Valentina; Kovacic, Jason C.

    2015-01-01

    Fibromuscular dysplasia (FMD) involving the coronary arteries is an uncommon but important condition that can present as acute coronary syndrome, left ventricular dysfunction, or potentially sudden cardiac death. Although the classic angiographic “string of beads” that may be observed in renal artery FMD does not occur in coronary arteries, potential manifestations include spontaneous coronary artery dissection, distal tapering or long, smooth narrowing that may represent dissection, intramural hematoma, spasm, or tortuosity. Importantly, FMD must be identified in at least one other noncoronary arterial territory to attribute any coronary findings to FMD. Although there is limited evidence to guide treatment, many lesions heal spontaneously; thus, a conservative approach is generally preferred. The etiology is poorly understood, but there are ongoing efforts to better characterize FMD and define its genetic and molecular basis. This report reviews the clinical course of FMD involving the coronary arteries and provides guidance for diagnosis and treatment strategies. PMID:25190240

  3. Coronary artery manifestations of fibromuscular dysplasia.

    PubMed

    Michelis, Katherine C; Olin, Jeffrey W; Kadian-Dodov, Daniella; d'Escamard, Valentina; Kovacic, Jason C

    2014-09-09

    Fibromuscular dysplasia (FMD) involving the coronary arteries is an uncommon but important condition that can present as acute coronary syndrome, left ventricular dysfunction, or potentially sudden cardiac death. Although the classic angiographic "string of beads" that may be observed in renal artery FMD does not occur in coronary arteries, potential manifestations include spontaneous coronary artery dissection, distal tapering or long, smooth narrowing that may represent dissection, intramural hematoma, spasm, or tortuosity. Importantly, FMD must be identified in at least one other noncoronary arterial territory to attribute any coronary findings to FMD. Although there is limited evidence to guide treatment, many lesions heal spontaneously; thus, a conservative approach is generally preferred. The etiology is poorly understood, but there are ongoing efforts to better characterize FMD and define its genetic and molecular basis. This report reviews the clinical course of FMD involving the coronary arteries and provides guidance for diagnosis and treatment strategies.

  4. Myometrial dysplasia (atypical myometrial hyperplasia).

    PubMed

    Cramer, Stewart F; Newcomb, Patricia M; Bonfiglio, Thomas A

    2007-04-01

    Although precursor lesions are well known for cervical and endometrial neoplasms, precursor lesions are not currently recognized for the most common tumor of the uterus-leiomyomas. Myometrial hyperplasia has been recently described and evaluated by morphometry, but its relationship to uterine leiomyomas has not been systematically explored. Myometrial dysplasia (atypical myometrial hyperplasia) has not been previously recognized. We herein report a case of myometrial dysplasia with immunostains for proliferation marker MIB-1 (Ki-67) and for p53. The paradoxical rarity of myometrial dysplasia is considered in comparison to the striking frequency of uterine leiomyomas.

  5. Fibrous dysplasia and cherubism

    PubMed Central

    Bhattacharya, Surajit; Mishra, RK

    2015-01-01

    Fibrous dysplasia (FD) is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form. Polyostotic form may be associated with various endocrine abnormalities, which require active management apart from the management of FD. Management of FD is not free from controversies. While total surgical excision of the involved area and reconstruction using newer micro-vascular technique is the only definitive treatment available from the curative point of view, but this can be only offered to monostotic and very few polyostotic lesions. In polyostotic varieties on many occasions these radical surgeries are very deforming in these slow growing lesions and so their indication is highly debated. The treatment of cranio-facial fibrous dysplasia should be highly individualized, depending on the fact that the clinical behavior of lesion is variable at various ages and in individual patients. A more conservative approach in the form of aesthetic recontouring of deformed bone, orthodontic occlusal correction, and watchful expectancy may be the more accepted form of treatment in young patients. Newer generation real-time imaging guidance during recontouring surgery adds to accuracy and safety of these procedures. Regular clinical and radiological follow up is required to watch for quiescence, regression or reactivation of the disease process. Patients must be

  6. Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management.

    PubMed

    Aurégan, Jean-Charles; Odent, Thierry; Coyle, Ryan M; Miladi, Lotfi; Wicart, Philippe; Dubousset, Jean; Le Merrer, Martine; Padovani, Jean-Paul; Glorion, Christophe

    2014-04-20

    A review of clinical publications, current knowledge, and recent developments regarding the etiology of ischiovertebral dysplasia was combined with a clinical review of the condition. To acquaint orthopedic spine surgeons with identification patterns of ischiovertebral dysplasia in order to provide them with guidelines about spine management and which complications to expect. Ischiovertebral dysplasia is a rare skeletal dysplasia that may appear in a sporadic fashion or be inherited with an autosomal dominant inheritance pattern. It is defined by the association of an ischiopubic ramus hypoplasia and a vertebral dysplasia. It leads to a specific spine deformity whose management and complications should be clarified. Thirty consecutive patients from 0 to 31 years of age with ischiovertebral dysplasia were included from 5 centers specialized in congenital spinal deformities. Frontal and sagittal Cobb angles before treatment, natural history of the curves, therapeutic options, and their complications were systematically analyzed. All the patients had a vertebral dysplasia and 28 of them developed a spinal deformity. This deformity was an extremely severe thoracic kyphoscoliosis in 25 cases. The other deformities were a thoracolumbar scoliosis in 1 case and a thoracolumbar kyphosis in 2 cases. The management of the thoracic kyphoscoliosis was always challenging and complications included death by respiratory failure (3 cases) and neurological impairment (9 cases). Recognizing the occurrence of ischioverterbral dysplasia is very important to allow for dedicated treatment. The authors advocate preoperative distraction and circumferential fusion to prevent progression of the curve and to avoid the potentially fatal sequelae associated with this disorder. 4.

  7. Multiple epiphyseal dysplasia

    PubMed Central

    2009-01-01

    Background Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset osteoarthritis, mainly in the hip and knee, and mild-to-moderate short stature. Here we report on a 6-generation MED family with 17 affected members. Method The clinical and radiographic data on the 12 affected members still living were scrutinized. A structured inquiry comprising state of health and MED-related symptoms since birth up to the present time and the osteoarthritis outcome (KOOS) questionnaire were sent to all living family members with MED. The 5 known gene loci for autosomal dominant MED were analyzed for linkage, using fluorescence-labeled microsatellite markers. Linkage was ascertained with markers close to the COL9A2 gene, which was analyzed for mutations by sequencing. Results We identified an exon 3 donor splice mutation in the COL9A2 gene in all affected family members. Clinical, radiographic, and questionnaire data from affected family members suggested that MED caused by COL9A2 mutations starts in early childhood with knee pain accompanied by delayed ossification of femoral epiphyses. The disease then either stabilizes during puberty or progresses with additional joints becoming affected; joint surgery might be necessary. The progression of the disease also affects muscles, with increasing atrophy, resulting in muscle fatigue and pain. Muscular atrophy has not been reported earlier in cases with COL9A2 mutations. Interpretation In a patient with clinically suspected or verified MED, it is important to perform DNA-based analysis to identify a possible disease-causing mutation. This information can be used to carry out genetic risk assessment of other family members and to achieve an early and correct diagnosis in the children. PMID:19995321

  8. Renal arteriography

    MedlinePlus

    Renal angiogram; Angiography - kidney; Renal angiography; Renal artery stenosis - arteriography ... an artery by a blood clot Renal artery stenosis Renal cell cancer Angiomyolipomas (noncancerous tumors of the ...

  9. Valvular dysplasia and congestive heart failure in a juvenile African penguin (Spheniscus demersus).

    PubMed

    McNaughton, Allyson; Frasca, Salvatore; Mishra, Neha; Tuttle, Allison D

    2014-12-01

    Abstract: An aquarium-housed, 6-mo-old African penguin (Spheniscus demersus) presented with acute respiratory distress. Auscultation revealed a grade II-III systolic murmur in the absence of adventitial sounds, and an enlarged heart without pulmonary edema was seen radiographically. Echocardiographic evaluation revealed atrioventricular (AV) valvular dysplasia and ventricular enlargement. The penguin was treated with enalapril, furosemide, and pimobendan but died within 3 wk of detection of the murmur. Congenital dysplasia of the right AV valve with right atrial and ventricular dilation and ventricular hypertrophy were diagnosed on postmortem examination.

  10. Brain Herniation in Neurofibromatosis with Dysplasia of Occipital Bone and Posterior Skull Base

    PubMed Central

    Rangarajan, Vithal; Mahore, Amit; Patil, Manoj; Sathe, Prashant; Kaswa, Amol; Gore, Sandeep; Dharurkar, Pralhad; Kawale, Juhi

    2015-01-01

    A 22-year-old female, a known case of neurofibromatosis 1 (NF1), presented with a congenital swelling in the left occipital region. She had developed recent onset dysphagia and localized occipital headache. Neuroradiology revealed a left occipital meningoencephalocele and a left parapharyngeal meningocele. This was associated with ventriculomegaly. She was advised on cranioplasty along with duraplasty which she denied. She agreed to a lumbar-peritoneal shunt. She described a dramatic improvement in her symptoms following the lumbar-peritoneal shunt. Occipital dysplasias, though uncommon, have been reported in the literature. We review this case and its management and discuss relevant literature on occipital dysplasias in NF1. PMID:26600957

  11. Guide to Understanding Fibrous Dysplasia

    MedlinePlus

    ... is usually involved. It can also result in cranial nerve problems. If the temporal bone is affected, the ... paralysis or dizziness. However, any of our 12 cranial nerves can be involved with fibrous dysplasia. The more ...

  12. Genetics Home Reference: osteoglophonic dysplasia

    MedlinePlus

    ... images. Premature fusion of certain bones in the skull (craniosynostosis) typically occurs in osteoglophonic dysplasia . The craniosynostosis ... in the medical literature as a tower-shaped skull , or a relatively mild version of a deformity ...

  13. Genetics Home Reference: campomelic dysplasia

    MedlinePlus

    ... a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. ... those that are important for development of the skeleton and reproductive organs. Most cases of campomelic dysplasia ...

  14. Genetics Home Reference: Kniest dysplasia

    MedlinePlus

    ... disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision ... for This Condition Kniest chondrodystrophy Kniest syndrome Metatropic dwarfism, type II Metatropic dysplasia type II Swiss cheese ...

  15. Ectodermal dysplasia with true anodontia

    PubMed Central

    Bala, Madhu; Pathak, Anuradha

    2011-01-01

    The hereditary condition known as ectodermal dysplasia is characterized by the absence or defect of two or more ectodermally derived structures. The most commonly observed forms of ectodermal dysplasia are the hidrotic and hypohidrotic types; discrimination is based on the absence or presence of sweat glands. A case of 8-year-old male child with hypohidrotic ectodermal dysplasia with complete anodontia of primary as well as secondary dentitions is presented. The child had a short stature, low intelligent quotient (I.Q.,), and was underweight. The patient experienced episodes of high fever, was intolerant to heat, and did not sweat. He exhibited smooth and dry skin, sparse light-colored eyebrows. Dental clinicians can be the first to diagnose ectodermal dysplasia due to the absence of teeth. PMID:22529591

  16. Genetics Home Reference: frontometaphyseal dysplasia

    MedlinePlus

    ... of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1 , ... Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called ...

  17. Guide to Understanding Frontonasal Dysplasia

    MedlinePlus

    ... although most people with FND are of normal intelligence. Heart Rare cases of frontonasal dysplasia may be ... prognosis m any people with FND have normal intelligence and can expect a normal lifespan. how can ...

  18. Genetics Home Reference: gnathodiaphyseal dysplasia

    MedlinePlus

    ... be a variation of another bone disorder called osteogenesis imperfecta , which is also characterized by frequent bone fractures. ... considered to be a separate condition. Unlike in osteogenesis imperfecta , the fractures in gnathodiaphyseal dysplasia heal normally without ...

  19. Reconstruction of the Acetabulum in Developmental Dysplasia of the Hip in total hip replacement

    PubMed Central

    Sakellariou, Vasileios I.; Christodoulou, Michael; Sasalos, Gregory; Babis, George C.

    2014-01-01

    Developmental dysplasia of the hip (DDH) or congenital hip dysplasia (CDH) is the most prevalent developmental childhood hip disorder. It includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. The natural history of neglected DDH in adults is highly variable. The mean age of onset of symptoms is 34.5 years for dysplastic DDH, 32.5 years for low dislocation, 31.2 years for high dislocation with a false acetabulum, and 46.4 years for high dislocation without a false acetabulum. Thorough understanding of the bony and soft tissue deformities induced by dysplasia is crucial for the success of total hip arthroplasty. It is important to evaluate the existing acetabular deformity three-dimensionally, and customize the correction in accordance with the quantity and location of ace tabular deficiencies. Acetabular reconstruction in patients with DDH is challenging. Interpretation of published data is difficult and should be done with caution because most series include patients with different types of hip disease. In general, the complication rate associated with THA is higher in patients with hip dysplasia than it is in patients with osteoarthritis. Overall, clinical and functional outcomes following THA in patients hip dysplasia (DDH) differ from those treated for primary hip osteoarthritis, possibly due to the lower age and level of activity. Although function scores decline with age, the scores for pain and range of motion presented with a statistically significant improvement in the long-term. PMID:25386570

  20. Prevalence of developmental dysplasia of the hip in children with clubfoot.

    PubMed

    Chou, Daud Ts; Ramachandran, Manoj

    2013-10-01

    The relationship between congenital talipes equinovarus (CTEV) and developmental dysplasia of the hip (DDH) remains uncertain. The role of routine hip screening in children with CTEV is debated. A recent study has found a high incidence of DDH in patients with CTEV. The aim of our study was to determine the true prevalence of radiographic hip dysplasia and identify the need for routine hip screening in patients treated for CTEV. From a single centre database of 165 children consisting of 260 CTEV, a prospective radiological prevalence study of 101 children was performed over a period of 3 months. A single anterior-posterior pelvic radiograph was performed at a minimum age of 5 months. The DDH was determined by a single senior investigator based on the age-adjusted acetabular index (AI) as described by Tonnis. There were no dislocations or subluxations. According to the age-adjusted AI, 16 children had 'light' dysplasia and one child had 'severe' dysplasia. The child with severe dysplasia was known to have DDH and had already undergone treatment. The 16 children with light dysplasia did not require any form of treatment. Out of one hundred and one children with CTEV, only one had DDH requiring treatment. This is consistent with the majority of the literature supporting the premise that there is no true association between CTEV and DDH. We, therefore, feel that routine hip screening for children with CTEV is not supported by current evidence and cannot be recommended.

  1. Renal nuclear imaging and analysis in pediatric patients.

    PubMed

    Ash, J M; Gilday, D L

    1980-06-01

    Because a renal scan reflects the physiologic configuration and function of the kidney, it provides information that cannot be obtained with conventional intravenous pyelography. It is particularly useful in children with hydronephrosis, vesicoureteral reflux, chronic pyelonephritis, and congenital renal anomalies.

  2. Embryonic pathogenesis of hypogonadism and renal hypoplasia in hgn/hgn rats characterized by male sterility, reduced female fertility and progressive renal insufficiency.

    PubMed

    Suzuki, Hiroetsu; Yagi, Mio; Saito, Kenichi; Suzuki, Katsushi

    2007-03-01

    Congenital hypoplasia and dysplasia affect the postnatal development of organs, their physiological functioning in adulthood and the incidence of related diseases at an advanced age. Hypogonadic (hgn/hgn) rats are characterized by male sterility, reduced female fertility, progressive renal insufficiency and growth retardation, all controlled by a single recessive allele (hgn) located on chromosome 10. Since our previous studies indicated that the hypoplasia (dysplasia) of the affected organs was present at birth, we examined the embryonic pathogenesis. We mated hgn/hgn females to Brown Norway males and backcrossed F(1) males to hgn/hgn females. The resulting N(1) fetuses were genotyped using a hgn-linked microsatellite. Both sexes of hgn/hgn fetuses showed low body weight after embryonic day (ED) 15.5 and renal hypoplasia after ED 17.5. Their kidneys contained a reduced number of nephrons in a poorly formed nephrogenic zone and renal cortex. The hgn/hgn ovaries contained a small number of oogonia at ED 15.5 and oocytes after ED 17.5. Testicular growth defects were obvious after ED 17.5, and reduced numbers of Sertoli cells were detected at ED 19.5 and 21.5. The seminiferous cords in hgn/hgn testes contained more apoptotic and mitotic cells than those in +/hgn testes. These findings suggest that the phenotypes described in adult hgn/hgn rats result from embryonic hypogenesis, which continues to early postnatal stage and causes a reduction in functional tissues and cells. Since hgn/hgn rats have an insertion mutation in the microtubule-associated protein Spag5 gene, the embryonic hypogenesis described in hgn/hgn rats might result from defective cell proliferation.

  3. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  4. Congenital cytomegalovirus

    MedlinePlus

    ... Churchill Livingstone; 2014:chap 140. Swanson EC. Congenital cytomegalovirus infection: new prospects for prevention and therapy. Pediatr Clin ... and the A.D.A.M. Editorial team. Cytomegalovirus Infections Read more Latest Health News Read more Health ...

  5. Congenital cataract

    MedlinePlus

    ... Congenital and inherited cataracts. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ... Cataracts and systemic disease. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ...

  6. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  7. Congenital Abnormalities

    MedlinePlus

    ... while you are pregnant. Combination of Genetic and Environmental Problems Some congenital abnormalities may occur if there is a genetic tendency for the condition combined with exposure to certain environmental influences within the womb during critical stages of ...

  8. Congenital ptosis.

    PubMed

    SooHoo, Jeffrey R; Davies, Brett W; Allard, Felicia D; Durairaj, Vikram D

    2014-01-01

    Congenital blepharoptosis presents within the first year of life either in isolation or as a part of many different ocular or systemic disorders. Surgical repair is challenging, and recurrence necessitating more than one operation is not uncommon. Not all patients with congenital ptosis require surgery, but children with amblyopia due to astigmatic anisometropia or deprivation may benefit from early surgical correction. A variety of surgical procedures to correct congenital ptosis have been described. The choice of procedure depends on a number of patient-specific factors, such as degree of ptosis and levator function, as well as surgeon preference and resource availability. We review the genetics, associated syndromes, and surgical treatments of congenital ptosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. [Congenital diarrhoea].

    PubMed

    Buda, Piotr; Friedman-Gruszczyńska, Joanna; Książyk, Janusz

    2011-01-01

    Congenital diarrhoea of heterogenic etiology is a rare cause of chronic diarrhoea. Characteristic features are: onset in the first weeks of life, life-threatening severe dehydratation and electrolyte disorders leading to a necessity of long-term parenteral nutrition. The clinical onset may be delayed and the degree of diarrhoea may be modest, making the diagnosis difficult. The main causes of congenital diarrhoea such as intestine electrolytes, carbohydrates, lipid and protein transport disorders and congenital enzymatic deficiencies, enterocyte polarization disorders, hormonal, immunological, metabolic, genetic and congenital anatomic disorders are presented in the paper. Some of them, such as: microvillus inclusion disease, tufting enteropathy, intestinal anedocrynosis, IPEX syndrome (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) have been described recently. One of the basic investigations, when congenital diarrhea is suspected, is general examination of the stool, its electrolyte concentration and serum electrolytes and blood gas analysis. Often, small bowel biopsy with histological examination (with the use of electronic microscopy and PAS staining) is indicated. In some cases molecular examination is possible and indicated. In differential diagnosis other, more frequent causes of chronic diarrhea of infancy, have to be excluded. In most of the cases of congenital diarrhoea there is no casual treatment available - usually long-term parenteral nutrition is necessary.

  10. The different appearance of the oculodentodigital dysplasia syndrome.

    PubMed

    Thomsen, M; Schneider, U; Weber, M; Niethard, F U

    1998-01-01

    We report on two families with the oculodentodigital (ODD) dysplasia syndrome, also called Meyer-Schwickerath syndrome. It represents a rare disorder characterized by eye and facial abnormalities causing a unique facial appearance. The phenotype of the young patients resembles those of identical twins. We found syndactyly mostly at the hands and, additionally, characteristic phalangeal aberrations, defects in teeth enamel, and trichosis. In the one family, the ODD dysplasia syndrome seemingly originated in a new mutation. The affected child was treated surgically in our clinic (syndactyly separation). In the other family, three patients (grandmother, mother, and granddaughter) were subjects of syndactyly separation. The aim of our surgeries was to separate the webbed fingers so there would be a normal spread and to improve the function and appearance of fingers. The ODD dysplasia syndrome correlates with the Hallermann-Streiff syndrome, or oculomandibulodyscephaly, which is characterized by a typical skull shape (brachicephaly with frontal brossing), a bird-like face, and eye abnormalities (congenital cataracts and microphthalmia).

  11. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

    PubMed

    van Roij, Mirjam H H; Mizumoto, Shuji; Yamada, Shuhei; Morgan, Tim; Tan-Sindhunata, M B; Meijers-Heijboer, H; Verbeke, J I L M; Markie, David; Sugahara, Kazuyuki; Robertson, Stephen P

    2008-09-15

    Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists, knees), secondary large joint dislocations, rhizomelia, fusion of carpal bones and mild brachydactyly. Affected individuals were homozygous for a missense mutation, R304Q in CHST3 that encodes the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). This enzyme mediates the sulfation of proteoglycans, particularly chondroitin sulfate (CS), in the extracellular matrix of cartilage. Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. Fibroblasts and urine obtained from affected patients demonstrated negligible levels of 6-O-sulfated GalNAc residue in CS. Furthermore, the 6-O-sulfotransferase activity of cloned C6ST-1 into which the L286P mutation had been introduced was dramatically reduced, confirming the pathogenicity of this substitution. These results indicate that the clinical consequences of a deficiency of 6-O-sulfation in CS can be varied and that a clinical spectrum may exist similar to that seen in other skeletal dysplasias characterized by disorders of proteoglycan sulfation. Copyright 2008 Wiley-Liss, Inc.

  12. Association between Kniest dysplasia and chondrosarcoma in a child.

    PubMed

    Hochart, Audrey; Dieux, Anne; Coucke, Paul; Fron, Damien; Fayoux, Pierre; Labalette, Pierre; Boutry, Nathalie; Escande, Fabienne; Aubert, Sébastien; Renaud, Florence; Rocourt, Nathalie; Vinchon, Matthieu; Leblond, Pierre

    2015-12-01

    Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the alpha 1 (II) chain in COL2A1 between exons 12 and 24. Somatic COL2A1 mutations have been identified in chondrosarcoma, a rare cartilage forming neoplasm, with a hypermutability of the gene reported in 37% of cases. However, to the best of our knowledge, there is no reported increase in predisposition to chondrosarcoma in human collagenopathies, and no reported clinical association between these congenital diseases and cartilaginous tumors. In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma. We also describe a new constitutive mutation in COL2A1. © 2015 Wiley Periodicals, Inc.

  13. Prenatal diagnosis of frontonasal dysplasia with anterior encephalocele

    PubMed Central

    Esmer, Aytul Çorbacıoğlu; Kalelioğlu, İbrahim; Kayserili, Hülya; Yüksel, Atıl; Has, Recep

    2013-01-01

    Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases. A 24-year-old woman was referred to our unit at 27 weeks gestation due to the preliminary diagnosis of encephalocele. The sagittal and axial sonography of the fetal face depicted a midline mass measuring 3.8 × 4.2 cm, projecting anteriorly between the fetal orbits and extending from the the upper aspects of the forehead to the nasal bridge, which was consistent with the frontal (anterior) encephalocele. There were prominent hypertelorism and two facial clefts, and the nostrils were extremely separated. Following genetic counseling, the couple requested termination of pregnancy. Fetal pathologic examination confirmed the diagnosis of frontonasal dysplasia and anterior encephalocele with no additional major malformation. The fetal karyotype was normal and no mutation in the ALX1 gene was found, excluding ALX1-related frontonasal dysplasia in the differential diagnosis. Fetuses with neural tube defect may suffer from associated syndromes and disorders, as with our case. The presence of frontonasal dyplasia should be considered when an anterior encephalocele is detected by ultrasonography. PMID:24592072

  14. Osteofibrous dysplasia and adamantinoma.

    PubMed

    Most, Mathew J; Sim, Franklin H; Inwards, Carrie Y

    2010-06-01

    Osteofibrous dysplasia (OFD) is a rare, benign, fibro-osseous lesion that typically is seen within the cortex of the tibia in children. Adamantinoma (AD) is a rare, low-grade malignant primary bone tumor that occurs most often in the tibia and/or fibula of adolescent persons and young adults; however, it has been reported in other long bones, as well. Immunohistochemical and ultrastructural evidence has shown that the neoplastic cell in AD derives from an epithelial lineage. More recently, published reports have described another clinical entity-differentiated or OFD-like AD-that appears to lie between OFD and AD along a spectrum of disease. Controversy exists as to whether OFD is a precursor lesion to AD or whether OFD may be a residual lesion resulting from a spontaneously regressing AD. Management of OFD varies from observation to surgical intervention, depending on the age of the patient and the extent of the lesion. Management of AD requires surgical resection with wide margins, followed by appropriate reconstruction, to minimize the risk of local recurrence or metastasis.

  15. Increased skeletal:renal uptake ratio. [Bone-seekers

    SciTech Connect

    Cheng, T.H.; Holman, B.L.

    1980-08-01

    Twenty-four patients with increased skeletal:renal uptake ratios of /sup 99m/Tc-methylene diphosphonate were studied. Increased uptake was central in metastatic prostate carcinoma, peripheral in hematologic disorders, and heterogeneous in Paget disease and fibrous dysplasia. There was no discernible redistribution of skeletal uptake in patients with renal failure. Absence of both renal and bladder activity was not observed in patients with normal renal function. An increased ratio was always abnormal and frequently indicated diffuse bone disease.

  16. Evolution of the term and definition of dysplasia of the hip – a review of the literature

    PubMed Central

    Idzior, Maciej; Jóźwiak, Marek

    2015-01-01

    There is no consensus on the definition of dysplasia of the hip (DH). Past and present concepts used to describe DH do not form a complete view of the pathology. Moreover, some authors still present the disease as congenital, not developmental. This prompted authors to analyze the evolution of the definition of DH. Based on the biomedical databases 500 articles and books in the field of hip dysplasia were found and analyzed. Fifteen definitions of hip dysplasia met inclusion criteria, subsequently were analyzed and presented in chronological order. The analysis revealed that currently there is no single, universal definition of hip dysplasia in the aspect of morphological, clinical, and radiological studies. Despite the widely-used term of DH, it is described imprecisely and in different ways. Therefore, it is necessary to develop a multidisciplinary definition of this pathology covering all aspects of hip disorders considered valid in modern orthopaedics. PMID:26528350

  17. Mini-implants: alternative for oral rehabilitation of a child with ectodermal dysplasia.

    PubMed

    Mello, Bianca Zeponi Fernandes; Silva, Thiago Cruvinel; Rios, Daniela; Machado, Maria Aparecida Andrade Moreira; Valarelli, Fabrício Pinelli; Oliveira, Thais Marchini

    2015-01-01

    Ectodermal dysplasia is a rare congenital disease that affects several structures of ectodermal origin. The most commonly related oral characteristics are hypodontia, malformed teeth and underdeveloped alveolar ridges. New alternative treatments are needed due to the failure of the conventional prosthesis retention. This case report outlines the oral rehabilitation treatment of a 9-year-old girl with ectodermal dysplasia. The treatment was performed with conventional prosthesis upon mini-implants. The mini-implants provided prosthetic retention. The patient reported a good adaptation of the dental prosthesis and satisfaction with the treatment. The increased self-esteem improved the socialization skills of the girl. In this case report, use of prosthesis with mini-implants was satisfactory for prosthetic retention. However, clinical studies with long-term follow-up are needed to test the mini-implants as an alternative for oral rehabilitation of children with ectodermal dysplasia.

  18. Ectodermal Dysplasia: A Genetic Review

    PubMed Central

    Prashanth, S

    2012-01-01

    Abstract Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202. PMID:25206167

  19. Respiratory and general outcome in neonates with renal oligohydramnios--a single-centre experience.

    PubMed

    Mehler, Katrin; Beck, Bodo B; Kaul, Ingrid; Rahimi, Gohar; Hoppe, Bernd; Kribs, Angela

    2011-11-01

    Renal oligohydramnion (ROH) is predominantly caused by congenital abnormalities of the kidney and urogenital tract (CAKUT). Although the number of neonates born with chronic renal failure is small, they provide many challenges, and among the most problematic are respiratory management and long-term treatment of chronic renal failure. We studied the value of prenatal and perinatal variables to predict survival and the general long-term outcome of our ROH population. Method. A single-centre retrospective chart review was conducted in 36 neonates with ROH treated between 1996 and 2007. Respiratory data sets including minimum inspiratory oxygen concentration (FiO(2), 1d), best oxygenation index (BOI, 1d) and minimum arterial partial carbon dioxide (pCO(2), 1d) at the first day of life were available in 23 children requiring intubation. ROH causes were obstructive uropathy (n = 19), polycystic kidney disease [autosomal recessive polycystic kidney disease (ARPKD) n = 5 and autosomal dominant polycystic kidney disease n = 1], renal agenesis/dysplasia (n = 10) and bilateral renal vein thrombosis (n = 1). Survival until discharge was 64% (23/36), and overall survival was 58% (21/36). Seven patients died within 48 h from respiratory failure. Non-survivors had a higher minimum FiO(2) and pCO(2) (1d) compared to survivors (P < 0.001). Mean BOI (1d) was 6.2 in survivors versus 43.9 in the non-surviving group (P < 0.001). Logistic regression showed that BOI (28 gestational weeks) retained significance in predicting survival until discharge. The attitude toward initiating dialysis in neonates is changing and long-term outcome in the absence of severe comorbidity is promising. Prenatal prediction concerning respiratory and renal outcome in fetuses with ROH is difficult. Our data suggest that BOI (1d) and onset of ROH may be reliable predictors of respiratory prognosis in children born with ROH.

  20. Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia.

    PubMed

    Nakahashi, Masumi; Sato, Noriko; Yagishita, Akira; Ota, Miho; Saito, Yoshiaki; Sugai, Kenji; Sasaki, Masayuki; Natsume, Jun; Tsushima, Yoshito; Amanuma, Makoto; Endo, Keigo

    2009-12-01

    Hemimegalencephaly is a well-known congenital malformation. However, localized megalencephaly, which may be one of the subtypes of hemimegalencephaly, has not been separately investigated. In the present study, we attempted to characterize the clinical and magnetic resonance (MR) imaging features of localized megalencephaly in comparison with ordinary diffuse hemimegalencephaly and multilobar cortical dysplasia. MR findings for 43 patients with hemimegalencephaly and ten with multilobar cortical dysplasia, which is the differential diagnosis of localized megalencephaly, were retrospectively reviewed. Clinical findings such as the onset and severity of seizures and imaging findings including the affected area of the brain, structures outside of the hemisphere, and interval morphological changes were examined. Of the 43 patients, 11 showed signs of localized megalencephaly (25.6%). Localized megalencephaly was predominantly seen on the left side (72.7%) and had a tendency toward severe-grade seizures compared to multilobar cortical dysplasia. The frequencies of the extracerebral abnormalities in the diffuse hemimegalencephaly, localized megalencephaly, and multilobar cortical dysplasia groups were 84.4%, 36.4%, and 0.0%, respectively. There were three localized megalencephaly patients whose affected areas shrank and whose images were similar to those of multilobar cortical dysplasia. Localized megalencephaly accounts for one quarter of all hemimegalencephaly cases in this study. The incidence of extracerebral abnormalities in patients with localized hemimegalencephaly was almost half that of patients with diffuse hemimegalencephaly. Extracerebral abnormalities were absent in patients with multilobar cortical dysplasia. Associated extracerebral abnormalities may be a clue to differentiating localized megalencephaly from multilobar cortical dysplasia.

  1. Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan Syndrome by Molecular Genetic Testing

    PubMed Central

    Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina

    2014-01-01

    Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene. PMID:24754368

  2. Advances in Skeletal Dysplasia Genetics.

    PubMed

    Geister, Krista A; Camper, Sally A

    2015-01-01

    Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. This remarkable rate of discovery is largely due to the expanded use of high-throughput genomic technologies. In this review, we discuss these recent discoveries and our understanding of the molecular mechanisms behind these skeletal dysplasia phenotypes. We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic causes. The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design.

  3. Advances in Skeletal Dysplasia Genetics

    PubMed Central

    Geister, Krista A.; Camper, Sally A.

    2017-01-01

    Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. This remarkable rate of discovery is largely due to the expanded use of high-throughput genomic technologies. In this review, we discuss these recent discoveries and our understanding of the molecular mechanisms behind these skeletal dysplasia phenotypes. We also cover potential therapies, unusual genetic mechanisms, and novel skeletal syndromes both with and without known genetic causes. The acceleration of skeletal dysplasia genetics is truly spectacular, and these advances hold great promise for diagnostics, risk prediction, and therapeutic design. PMID:25939055

  4. Epithelial dysplasia in oral cavity.

    PubMed

    Shirani, Samaneh; Kargahi, Neda; Razavi, Sayed Mohammad; Homayoni, Solmaz

    2014-09-01

    Among oral lesions, we encounter a series of malignant epithelial lesions that go through clinical and histopathologic processes in order to be diagnosed. Identifying these processes along with the etiology knowledge of these lesions is very important in prevention and early treatments. Dysplasia is the step preceding the formation of squamous cell carcinoma in lesions which have the potential to undergo dysplasia. Identification of etiological factors, clinical and histopathologic methods has been the topic of many articles. This article, reviews various articles presenting oral cavity dysplasia, new clinical methods of identifying lesions, and the immunohistochemical research which proposes various markers for providing more precise identification of such lesions. This article also briefly analyzes new treatment methods such as tissue engineering.

  5. Postural deformities in congenital nephrotic syndrome.

    PubMed Central

    Morgan, G; Postlethwaite, R J; Lendon, M; Houston, I B; Savage, J M

    1981-01-01

    Six successive cases of congenital nephrotic syndrome are described. Each one showed flexion deformities of the knees and hips, widely open anterior and posterior fontanelles, and wide separation of the skull sutures. These abnormalities were present not only in cases in which the renal histology was of the microcystic Finnish type of congenital nephrotic syndrome, but also in those in which the histological picture was one of the variants associated with congenital nephrotic syndrome. It is suggested that such abnormalities are postural deformities, possibly produced by the large placenta. Images Fig. 1 Fig. 2 PMID:7332344

  6. Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

    PubMed Central

    Khorasani, Efat; Vakili, Rahim

    2016-01-01

    Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 and Schmid dysplasia in a child. The specific diagnosis of 11-β-hydroxylase deficiency can be determined using high basal levels of deoxycorticosterone and/or 11-deoxycortisol serums. PMID:26722148

  7. Oral rehabilitation of a young patient with hypohidrotic ectodermal dysplasia: A clinical report.

    PubMed

    Anuroopa, A; Abdulla, Jafar; Lovely, M

    2012-04-01

    Ectodermal dysplasia (ED) represents a group of patients with mild to severe congenital and developmental anomalies. Dentists are the first person to identify ED in young patients. The impairment is not just the form and function but extends to the social outlook as well as the psychology of the affected individual. This case report describes management of ED with a long-span fixed partial denture fabricated using a Broadrick flag.

  8. [Bronchopulmonary dysplasia: definitions and classifications].

    PubMed

    Sánchez Luna, M; Moreno Hernando, J; Botet Mussons, F; Fernández Lorenzo, J R; Herranz Carrillo, G; Rite Gracia, S; Salguero García, E; Echaniz Urcelay, I

    2013-10-01

    Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences.

  9. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  10. Early origin of adult renal disease.

    PubMed

    Maringhini, Silvio; Corrado, Ciro; Maringhini, Guido; Cusumano, Rosa; Azzolina, Vitalba; Leone, Francesco

    2010-10-01

    Observational studies in humans and experimental studies in animals have clearly shown that renal failure may start early in life. 'Fetal programming' is regulated by adaptations occurring in uterus including maternal nutrition, placental blood supply, and epigenetic changes. Low birth weight predisposes to hypertension and renal insufficiency. Congenital abnormalities of the kidney and urinary tract, adverse postnatal events, wrong nutritional habits may produce renal damage that will become clinically relevant in adulthood. Prevention should start early in children at risk of renal disease.

  11. Internal carotid artery surgical revascularization in a pediatric patient with Schimke immuno-osseous dysplasia.

    PubMed

    Westbroek, Erick M; Mukerji, Nitin; Kalanithi, Paul; Steinberg, Gary K

    2015-02-01

    Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, episodic lymphopenia, renal failure, and cerebrovascular disease secondary to arteriosclerosis and myointimal hyperplasia. In this paper the authors report the first known application of internal carotid artery (ICA) surgical revascularization to relieve a high-grade focal stenosis of the ICA in a pediatric patient, a 6-year-old boy with SIOD. The clinical presentation, imaging features, operative technique, and postoperative course are described and the molecular genetics, pathophysiology, and treatment considerations in SIOD are discussed.

  12. Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography.

    PubMed

    Wada, Ryu; Sawai, Hideaki; Nishimura, Gen; Isono, Kazutomo; Minagawa, Kyoko; Takenobu, Takashi; Harada, Kayoko; Tanaka, Hiroyuki; Ishikura, Reiichi; Komori, Shinji

    2011-09-01

    Fetal three-dimensional helical computed tomography (3D-CT) has attracted attention in the diagnosis of fetal skeletal dysplasias because of limited diagnostic capabilities of standard ultrasonography to delineate the skeleton. Here we report the first instance of diagnosing Kniest dysplasia with 3D-CT. Fetal 3D-CT was performed for a fetus at 28 weeks' gestation after ultrasonography at 24 weeks had shown moderate shortening of the limbs, mild narrow thorax, and polyhydramnios. The imaging parameters were set so as to reduce estimated fetal irradiation dose to 12.39 mGy of the CT dose index volume and 442 of the dose length product. Fetal 3D-CT revealed dumbbell-shaped femora and platyspondyly with coronal cleft of the lumbar vertebral body. This warranted a diagnosis of Kniest dysplasia and corresponded well with postnatal radiographic findings. In retrospect, however, spinal deformation was somewhat underestimated due to image smoothing associated with image processing in 3D-CT. Genetic testing for COL2A1 confirmed Kniest dysplasia; i.e., a de novo mutation of A-C transversion at the splice acceptor site of the 3' end of intron 16. The combined use of 3D-CT with ultrasonography is a power tool for the prenatal diagnosis of congenital skeletal dysplasias.

  13. Tracheomalacia - congenital

    MedlinePlus

    ... are floppy. Because the windpipe is the main airway, breathing difficulties begin soon after birth. Congenital tracheomalacia is very uncommon. Symptoms Symptoms can range from mild to severe, and may include: Breathing noises that may change with position and improve during ...

  14. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  15. [Congenital epulis].

    PubMed

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  16. Congenital amusias.

    PubMed

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap."

  17. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  18. Aortoiliac aneurysm with congenital right pelvic kidney.

    PubMed

    Date, Kazuma; Okada, Shuuichi; Ezure, Masahiko; Takihara, Hitomi; Okonogi, Shuuichi; Hasegawa, Yutaka; Sato, Yasushi; Kaneko, Tatsuo

    2015-05-01

    The association of congenital pelvic kidney with abdominal aortoiliac aneurysm is an extremely rare clinical finding. Previous reports have described various methods of aneurysm repair with successful preservation of the function of pelvic kidney. However, to our knowledge, reconstruction of more than two renal arteries has not been established. We report a case of abdominal aortic aneurysm complicated by congenital right pelvic kidney in a 72-year-old man. Computed tomography (CT) revealed an abdominal aortic aneurysm with a maximum diameter of 54 mm and a right common iliac aneurysm of 45 mm. In addition, he had a congenital right pelvic kidney and CT angiography identified three right pelvic renal arteries. The upper artery originated from the bifurcation of the terminal aorta and the lower two originated from the right common iliac artery. Three-dimensional CT was helpful for the accurate planning of the operation. Open surgical repair of the aortoiliac aneurysm with a Dacron bifurcated graft replacement was decided and reimplantation of all three right pelvic kidney arteries to the right limb of the graft was also performed. For renal preservation, the right pelvic kidney arteries were perfused with cold Ringer's lactate using a rapid infusion pump and coronary perfusion cannula. The patient's postoperative course was uneventful, and worsening of renal function was not observed. The perfusion of renal arteries with cold Ringer's solution was thought to be a simple and appropriate procedure for renal protection.

  19. Hypertension and microalbuminuria in children with congenital solitary kidneys.

    PubMed

    Schreuder, Michiel F; Langemeijer, Millie E; Bökenkamp, Arend; Delemarre-Van de Waal, Henriette A; Van Wijk, Joanna A E

    2008-06-01

    According to the hyperfiltration hypothesis, a low nephron endowment will lead to hyperfiltration in the remaining glomeruli and is associated with systemic hypertension, proteinuria and glomerulosclerosis. Being born with one functioning kidney instead of two, for instance because of unilateral renal agenesis or multicystic dysplastic kidney, is a cause of congenital renal mass reduction. In order to study the effect of congenital renal mass reduction on renal function and blood pressure, a retrospective chart review of 66 patients at the Pediatric Renal Center of the VU University Medical Center was performed. As intrauterine growth restriction is associated with a low nephron endowment, the additional effect of birthweight was also studied. A total of 50% of patients with congenital renal mass reduction is found to be hypertensive, using anti-hypertensive drugs, and/or having microalbuminuria (>20 mug/min). Patients born small for gestational age have significantly smaller kidneys and lower estimated glomerular filtration rate than patients with a normal birthweight. We conclude that microalbuminuria and/or hypertension is present in 50% of patients with congenital solitary kidneys, which warrants a systematic follow-up of blood pressure, proteinuria and renal function in all patients with congenital solitary functioning kidneys, especially in patients with a low birthweight.

  20. Medullary sponge kidney associated with congenital hemihypertrophy.

    PubMed

    Indridason, O S; Thomas, L; Berkoben, M

    1996-08-01

    Medullary sponge kidney is a developmental disorder characterized by ectatic and cystic malformation of the collecting ducts and tubules. Clinical manifestations include urinary tract infections, renal stones, and hematuria. It can be associated with other developmental disorders. A case of medullary sponge kidney associated with congenital hemihypertrophy, complicated by nephrocalcinosis and nephrolithiasis, is reported here.

  1. [Congenital hydrocephalus].

    PubMed

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  2. [Congenital ranula].

    PubMed

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  3. Congenital Hydrocephalus.

    PubMed

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  4. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  5. Type 2 congenital pulmonary airway malformation and congenital nephrotic syndrome: report of a new association.

    PubMed

    Millington, Karmaine A; Mani, Haresh

    2013-01-01

    Type 2 congenital pulmonary airway malformation (CPAM) has been reported in association with many other congenital anomalies. To the best of our knowledge, however, an association of type 2 CPAM with congenital nephrotic syndrome has not been heretofore reported. We present the 1st report of such an association in a boy who had a prenatal diagnosis of cystic lung malformation and was found to have congenital nephrotic syndrome (diffuse mesangial sclerosis) at 1 month of age. A prenatal ultrasonogram had also shown oligohydramnios, and additionally the child had cleft lip and palate. There was no family history of childhood renal or pulmonary disease, and genetic testing for genes mutated in congenital nephrotic syndrome was negative.

  6. Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population-based case-control study.

    PubMed

    Bánhidy, Ferenc; Dakhlaoui, Abdallah; Puhó, Erzsébet H; Czeizel, Andrew A E

    2011-06-01

    The objective of the present study was to estimate the preventive effect of folic acid for structural birth defects (i.e. congenital abnormalities [CAs]) in the offspring of pregnant women with diabetes mellitus type 1 (DM-1). The occurrence of medically recorded DM-1 in pregnant women who had malformed fetuses/newborns (cases) and delivered healthy babies (controls) with or without folic acid supplementation was compared in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. The case group included 22,843 offspring, and there were 79 (0.35%) pregnant women with DM-1, while the control group comprised of 38,151 newborns, and 88 (0.23%) had mothers with DM-1. Case mothers with DM-1 associated with a higher risk of total rate of CAs in their offspring (OR with 95% CI: 1.5, 1.1-2.0) compared to the total rate of CAs in the offspring of non-diabetic case mothers. This higher risk can be explained by four specific types/groups of CAs: isolated renal a/dysgenesis; obstructive CA of the urinary tract; cardiovascular CAs; and multiple CAs, namely caudal dysplasia sequence. However, there was no higher rate of total CAs in the children of pregnant women with DM-1 after folic acid supplementation; in addition, neural-tube defect and renal a/dysgenesis did not occur. However, this benefit cannot be explained by the CA reduction effect of folic acid during the critical period of major CAs. In conclusion, there was a certain reduction in maternal teratogenic effect of DM-1 after folic acid supplementation during pregnancy, but the explanation of this effect requires further study. © 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.

  7. An overview on congenital alopecia in domestic animals.

    PubMed

    Mecklenburg, Lars

    2006-12-01

    Alopecia, that is, lack of hair in any quantity, is a frequent complaint of pet owners. Although mostly acquired, rare congenital forms of alopecia exist that are associated with abnormalities in hair follicle morphogenesis. Congenital alopecias can result in changes in quality or quantity of hair follicles and the hair fibres produced by them. They vary in terms of clinical presentation and mode of inheritance. Histopathology is usually needed in order to differentiate between a reduced number of otherwise normal hair follicles and qualitative hair follicle abnormalities. Although our understanding of the molecular mechanisms that drive hair follicle morphogenesis in mice and humans has significantly increased during the last decade, still very little is known about congenital alopecias in domestic animals. Because of their rarity and the general lack of knowledge about their pathophysiology, classification of congenital alopecias in domestic animals is still unsatisfactory. This article reviews hair follicle morphogenesis and its most important molecular mechanisms, and it discusses the various forms of congenital alopecia occurring in domestic animals that have been described in the literature, differentiating between hair follicle aplasia, hair follicle dysplasia (i.e. defects associated with hair follicle development and defects associated with hair shaft formation), and neuroectodermal dysplasias, the latter involving the hair follicle pigmentary system.

  8. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias

    PubMed Central

    Panda, Ananya; Gamanagatti, Shivanand; Jana, Manisha; Gupta, Arun Kumar

    2014-01-01

    Skeletal dysplasias are not uncommon entities and a radiologist is likely to encounter a suspected case of dysplasia in his practice. The correct and early diagnosis of dysplasia is important for management of complications and for future genetic counselling. While there is an exhaustive classification system on dysplasias, it is important to be familiar with the radiological features of common dysplasias. In this article, we enumerate a radiographic approach to skeletal dysplasias, describe the essential as well as differentiating features of common non-lethal skeletal dysplasias and conclude by presenting working algorithms to either definitively diagnose a particular dysplasia or suggest the most likely differential diagnoses to the referring clinician and thus direct further workup of the patient. PMID:25349664

  9. Vojta method in the treatment of developmental hip dysplasia – a case report

    PubMed Central

    Kiebzak, Wojciech; Żurawski, Arkadiusz; Dwornik, Michał

    2016-01-01

    Background Developmental dysplasia of the hip joint is one of the most common congenital defects and often results in functional and structural disorders. Such cases particularly demand optimizing therapeutic effects and maximally reducing the duration of therapy. Purpose The aim of this case report is to present the therapeutic process in a child with developmental hip dysplasia. Case report This is a case report of a female child with a birth weight of 2,800 g and an Apgar score of 9 points born to a gravida 3 para 3 mother at 37 weeks. The child was delivered by cesarean section, and the pregnancy was complicated by oligohydramnios. Subluxation of the left hip joint was diagnosed by an orthopedist in the third month of life. The treatment followed was the Vojta method (the first phase of reflex turning and reflex crawling). Results During the 6 weeks of the Vojta treatment, the left half of the femoral head was centralized, and the process of formation of the hip joint acetabulum was influenced effectively enough to change the acetabulum’s Graff type from the baseline D to IIb after 41 days of treatment. Conclusion The diagnostic work-up of congenital hip joint dysplasia should involve a physiotherapist who will investigate the child’s neuromuscular coordination, in addition to a neonatologist and a pediatrician. The therapy for a disorder of hip joint development of neuromotor origin should involve the application of global patterns according to Vojta. Children with congenital dysplasia of the hip joint should commence rehabilitation as early as possible. PMID:27578980

  10. [Chlamydia trachomatis and cervix dysplasia].

    PubMed

    Alaniz Sánchez, A; Flores Martínez, A; León Vistrain, M C; Castañeda Cano, E

    1995-09-01

    Fifty patients between 18 and 70 years of age from Gynecology and Obstetrics Department, Hospital General "Gonzalo Castañeda" ISSSTE, were studied. Patients were referred for bearing positive cytology with mild, moderate and severe dysplasia; also intentional search for Chlamydia trachomatis was made, both in cytology as well as with the immunofluorescence method, and also directed biopsy. A positive association was found in 10 patients (20%) proving that Chlamydia trachomatis is a promotor and modifier of cervical atypia.

  11. Skeletal dysplasia in ancient Egypt.

    PubMed

    Kozma, Chahira

    2008-12-01

    The ancient Egyptian civilization lasted for over 3000 years and ended in 30 BCE. Many aspects of ancient Egyptian culture, including the existence of skeletal dysplasias, and in particular achondroplasia, are well known through the monuments and records that survived until modern times. The hot and dry climate in Egypt allowed for the preservation of bodies and skeletal anomalies. The oldest dwarf skeleton, the Badarian skeleton (4500 BCE), possibly represents an epiphyseal disorder. Among the remains of dwarfs with achondroplasia from ancient Egypt (2686-2190 BCE), exists a skeleton of a pregnant female, believed to have died during delivery with a baby's remains in situ. British museums have partial skeletons of dwarfs with achondroplasia, humeri probably affected with mucopolysaccharidoses, and a skeleton of a child with osteogenesis imperfecta. Skeletal dysplasia is also found among royal remains. The mummy of the pharaoh Siptah (1342-1197 BCE) shows a deformity of the left leg and foot. A mummified fetus, believed to be the daughter of king Tutankhamun, has scoliosis, spina bifida, and Sprengel deformity. In 2006 I reviewed the previously existing knowledge of dwarfism in ancient Egypt. The purpose of this second historical review is to add to that knowledge with an expanded contribution. The artistic documentation of people with skeletal dysplasia from ancient Egypt is plentiful including hundreds of amulets, statues, and drawing on tomb and temple walls. Examination of artistic reliefs provides a glance of the role of people with skeletal dysplasia and the societal attitudes toward them. Both artistic evidence and moral teachings in ancient Egypt reveal wide integration of individuals with disabilities into the society.

  12. Genetics Home Reference: CHST3-related skeletal dysplasia

    MedlinePlus

    ... Health Conditions CHST3-related skeletal dysplasia CHST3-related skeletal dysplasia Enable Javascript to view the expand/collapse ... PDF Open All Close All Description CHST3 -related skeletal dysplasia is a genetic condition characterized by bone ...

  13. Genetics Home Reference: multiple epiphyseal dysplasia

    MedlinePlus

    ... health and development? More about Mutations and Health Inheritance Pattern Multiple epiphyseal dysplasia can have different inheritance patterns. This condition can be inherited in an autosomal ...

  14. Pelvic radiograph in skeletal dysplasias: An approach

    PubMed Central

    Jana, Manisha; Nair, Nikhil; Gupta, Arun K; Kabra, Madhulika; Gupta, Neerja

    2017-01-01

    The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed. PMID:28744080

  15. Solitary kidney with renal artery aneurysm repaired by ex vivo reconstruction.

    PubMed

    Palcau, Laura; Gouicem, Djelloul; Joguet, Etienne; Cameliere, Lucie; Berger, Ludovic

    2014-01-01

    A 22-year-old pregnant female with pyelonephritis was found to have a 26-mm left renal artery aneurysm with unknown right kidney agenesis diagnosed by magnetic resonance imaging. Computed tomographic angiography with 3-dimensional reconstructions confirmed a saccular aneurysm localized at the bifurcation of the left posterior segmental artery. The patient ultimately underwent successful ex vivo left renal artery aneurysm repair with autotransplantation. Pathologic evaluation of the resected aneurysm confirmed the diagnosis of fibromuscular dysplasia. Fibromuscular dysplasia is the most common cause of renal artery stenosis and renovascular hypertension and can, in rare cases, be associated with the development of renal artery aneurysms.

  16. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  17. Occipital condylar dysplasia in a Jacob lamb (Ovis aries).

    PubMed

    Lee, Alison M; Fletcher, Nicola F; Rowan, Conor; Jahns, And Hanne

    2017-01-01

    Jacob sheep (Ovis aries) are a pedigree breed known for their "polycerate" (multihorned) phenotype. We describe a four-horned Jacob lamb that exhibited progressive congenital hindlimb ataxia and paresis, and was euthanased four weeks post-partum. Necropsy and CT-scan revealed deformity and asymmetry of the occipital condyles, causing narrowing of the foramen magnum and spinal cord compression. Histopathology demonstrated Wallerian degeneration of the cervical spinal cord at the level of the foramen magnum. These findings are consistent with occipital condylar dysplasia. This condition has been infrequently reported in the literature as a suspected heritable disease of polycerate Jacob sheep in the USA, and is assumed to arise during selection for the polycerate trait. This is the first reported case in European-bred Jacob sheep. Occipital condylar dysplasia should be considered as a differential diagnosis in polycerate Jacob lambs showing ataxia. It is important to raise awareness of this disease due to its suspected heritability and link to the popular polycerate trait.

  18. Occipital condylar dysplasia in a Jacob lamb (Ovis aries)

    PubMed Central

    Lee, Alison M.; Fletcher, Nicola F.; Rowan, Conor; Jahns, and Hanne

    2017-01-01

    Jacob sheep (Ovis aries) are a pedigree breed known for their “polycerate” (multihorned) phenotype. We describe a four-horned Jacob lamb that exhibited progressive congenital hindlimb ataxia and paresis, and was euthanased four weeks post-partum. Necropsy and CT-scan revealed deformity and asymmetry of the occipital condyles, causing narrowing of the foramen magnum and spinal cord compression. Histopathology demonstrated Wallerian degeneration of the cervical spinal cord at the level of the foramen magnum. These findings are consistent with occipital condylar dysplasia. This condition has been infrequently reported in the literature as a suspected heritable disease of polycerate Jacob sheep in the USA, and is assumed to arise during selection for the polycerate trait. This is the first reported case in European-bred Jacob sheep. Occipital condylar dysplasia should be considered as a differential diagnosis in polycerate Jacob lambs showing ataxia. It is important to raise awareness of this disease due to its suspected heritability and link to the popular polycerate trait. PMID:28652978

  19. Changes in pulmonary circulation in severe bronchopulmonary dysplasia.

    PubMed

    Bush, A; Busst, C M; Knight, W B; Hislop, A A; Haworth, S G; Shinebourne, E A

    1990-07-01

    Eight patients with severe bronchopulmonary dysplasia underwent cardiac catheterisation. Seven had a pulmonary vascular resistance greater than 3 mm Hg.l-1 min.m2 (mean 8.9, range 2.2-13.8). All had raised intrapulmonary shunts (mean 25.6%, range 5.4-50%, normal less than 5%). Two had a high alveolar dead space, and two had unsuspected congenital heart disease. Epoprostenol (prostacyclin), but not 100% oxygen, caused a significant fall in pulmonary vascular resistance. Death was associated with a high pulmonary vascular resistance and a high shunt. Morphometric studies in three cases showed normal numbers of airways, but increased thickness of bronchial muscle. The numbers of alveoli were reduced and the walls thickened. There was increased medial thickness in small pulmonary arteries with distal extension of muscle. In the oldest child some vessels were obliterated by fibrosis. We speculate that measurements of pulmonary vascular resistance and shunt may have prognostic value; that a trial of pulmonary vasodilators other than oxygen might be worthwhile in patients with poor prognosis; and that abnormalities of the pulmonary circulation contribute to the difficulties of managing patients with bronchopulmonary dysplasia.

  20. Cord Blood Endothelial Colony-Forming Cells from Newborns with Congenital Diaphragmatic Hernia

    PubMed Central

    Baker, Christopher D.; Black, Claudine P.; Ryan, Sharon L.; Balasubramaniam, Vivek; Abman, Steven H.

    2013-01-01

    Endothelial colony-forming cells (ECFC) are decreased in the cord blood of preterm infants with moderate-to-severe bronchopulmonary dysplasia (BPD). We quantified ECFC from infants with congenital diaphragmatic hernia (CDH), a neonatal disorder with severe lung hypoplasia. Unlike newborns who develop BPD, those with CDH had increased and highly-proliferative cord blood ECFC. PMID:23684109

  1. A New Technique for Reconstruction of the Tricuspid Valve Ring in Congenital Tricuspid Insufficiency

    PubMed Central

    Montero, C. G.; Tellez, G.; Simarro, E.; Juffé, A.; Amau, J. G.; Gurgos, R.; Figuera, D.; Cortina, A.

    1983-01-01

    A 50-year-old man was treated for a dysplasia-type congenital tricuspid insufficiency. The tricuspid valve ring was repaired with a perforated Teflon patch graft and the valve was replaced. The patient was discharged in good condition and is well after 18 months of follow-up. Images PMID:15227141

  2. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

    PubMed

    Unger, Sheila; Lausch, Ekkehart; Stanzial, Franco; Gillessen-Kaesbach, Gabriele; Stefanova, Irina; Di Stefano, Cristina Maria; Bertini, Enrico; Dionisi-Vici, Carlo; Nilius, Bernd; Zabel, Bernhard; Superti-Furga, Andrea

    2011-11-01

    Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy). While there is phenotypic overlap between the various members of each group, the two groups were considered to be totally separate with the former being strictly a structural skeletal condition and the latter group being confined to the peripheral nervous system. We report here on fetal akinesia as the presenting feature of severe metatropic dysplasia, suggesting that certain TRPV4 mutations can cause both a skeletal and a neuropathic phenotype. Three cases were detected on prenatal ultrasound because of absent movements in the second trimester. Case 4 presented with multiple joint contractures and absent limb movements at birth and was diagnosed with "fetal akinesia syndrome". Post-interruption and post-natal X-rays showed typical features of metatropic dysplasia in all four. Sequencing of the TRPV4 gene confirmed the presence of de novo heterozygous mutations predicting G78W (Case 1), T740I (Cases 2 and 3), and K276E (Case 4). Although some degree of restriction of movements is not uncommon in fetuses with skeletal dysplasia, akinesia as leading sign is unusual and suggests that certain TRPV4 mutations produce both chondrodysplasia and a peripheral neuropathy resulting in a severe "overlap" phenotype. Copyright © 2011 Wiley Periodicals, Inc.

  3. Congenital megacalycosis with IgA nephropathy: a case report and review of the literature.

    PubMed

    Turkmen, Ercan; Yildirim, Tolga; Ciftci, Turkmen; Altindal, Mahmut; Akinci, Devrim; Baydar, Dilek Ertoy; Bilen, Cenk Yucel; Arici, Mustafa

    2013-01-01

    Congenital megacalycosis is a rare renal disease characterized by calyceal dilatation without pelvic or ureteral obstruction. If not accompanied by nephrolithiasis and urinary tract infection, this disease is completely benign and does not cause renal dysfunction. We present a case of congenital megacalycosis that was diagnosed at the age of 41 (oldest case in the literature) after admitting with hematuria and acute renal dysfunction. IgA nephropathy was also diagnosed in this patient. Since renal dysfunction is not likely in these patients, if encountered; renal biopsy should be performed although technically difficult to diagnose the cause of this dysfunction.

  4. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

    PubMed

    Castori, Marco; Pascolini, Giulia; Parisi, Valentina; Sana, Maria Elena; Novelli, Antonio; Nürnberg, Peter; Iascone, Maria; Grammatico, Paola

    2015-04-01

    In 1980, a novel multiple malformation syndrome has been described in a 17-year-old woman with micro- and turricephaly, intellectual disability, distinctive facial appearance, congenital atrichia, and multiple skeletal anomalies mainly affecting the limbs. Four further sporadic patients and a couple of affected sibs are also reported with a broad clinical variability. Here, we describe a 4-year-old girl strikingly resembling the original report. Phenotype comparison identified a recurrent pattern of multisystem features involving the central nervous system, and skin and bones in five sporadic patients (including ours), while the two sibs and a further sporadic case show significant phenotypic divergence. Marked clinical variability within the same entity versus syndrome splitting is discussed and the term "cerebro-dermato-osseous dysplasia" is introduced to define this condition. © 2015 Wiley Periodicals, Inc.

  5. Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

    PubMed Central

    Reardon, W; Hall, C M; Dillon, M J; Baraitser, M

    1991-01-01

    A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered. Images PMID:1956063

  6. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

  7. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  8. Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy

    PubMed Central

    Verma, Ritu; Jana, Manisha; Bhalla, Ashu Seith; Kumar, Arvind; Kumar, Rakesh

    2016-01-01

    Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan. PMID:27170934

  9. Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies.

    PubMed

    Li, Ru; Fu, Fang; Zhang, Yong-Ling; Li, Dong-Zhi; Liao, Can

    2014-12-01

    The objective of this study was to characterize the genetic abnormalities in two fetuses with congenital anomalies in prenatal screening. The mother of Fetus 1 was 26 years old and had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound and magnetic resonance imaging (MRI) at 28 weeks of gestation showed mild ventriculomegaly, microcephaly, and agenesis of the corpus callosum. The mother of Fetus 2 was 25 years old and also had a second trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 32 weeks of gestation showed the presence of hyperechogenic and enlarged kidneys with multicystic renal dysplasia bilaterally and a persistent left superior vena cava (PLSVC). Both pregnant women underwent cord blood samplings because of the abnormal imaging results. Karyotype analysis revealed normal results in the two fetuses. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the cord blood and parental blood samples. Ultimately, the pregnancies were both terminated. CMA detected a 1.56-Mb duplication at 17q12 in Fetus 1 and a 1.93-Mb deletion of 17q12 in Fetus 2. Both the duplicated and deleted regions included the HNF1B and LHX1 genes. Neither the duplication nor deletion was inherited from the parents. This study is the first to report the prenatal diagnosis of a 17q12 duplication syndrome. Our results further confirmed that genes in this region, including HNF1B and LHX1, are essential for normal brain and kidney development, and also indicated some genes that may be associated with the cardiovascular abnormality. Combined with imaging examination, the use of CMA will improve the diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital anomalies. Copyright © 2014. Published by Elsevier B.V.

  10. [Hereditary cerebro-oculo-renal syndromes].

    PubMed

    Sessa, Galina; Hjortshøj, Tina Duelund; Egfjord, Martin

    2014-02-17

    Although many congenital diseases present disturbances of the central nervous system, eyes and renal function, only few of these have a defined genetic basis. The first clinical features of cerebro-oculo-renal diseases usually develop in early childhood and deterioration of kidney function and even end-stage kidney disease may occur in a young age. The syndromes should be considered in patients with retarded growth and development, central nervous system abnormalities, impaired vision or blindness and progressive renal failure.

  11. Cerebrospinal fluid otorrhea and pseudomonal meningitis in a child with Mondini dysplasia: case report.

    PubMed

    Hernandez, R Nick; Changa, Abhinav R; Bassani, Luigi; Jyung, Robert W; Liu, James K

    2015-09-01

    Mondini dysplasia is a rare congenital inner ear malformation that presents with abnormal cochlear development with accompanied vestibular dilation and vestibular aqueduct enlargement. This dysfunctional anatomy provides the potential for sensorineural hearing deficits, cerebrospinal fluid leaks, and severe cases of recurrent meningitis. We present the case of a child with Mondini dysplasia who presented with unilateral hearing loss and cerebrospinal fluid (CSF) otorrhea that was surgically repaired through a combined middle fossa/transmeatal middle ear approach to alleviate any recurrence of infection and cerebrospinal fluid otorrhea. Postoperatively, the patient remained neurologically stable without any further CSF leakage. CSF cultures revealed a Pseudomonas aeruginosa infection, a rare occurrence within the context of Mondini dysplasia. Retrograde bacterial spread from the external ear canal into the CSF space has been theorized as the possible pathogenesis of the resulting meningitis. The patient was successfully treated with intravenous antibiotics without any neurologic complications. Although Mondini dysplasia is a rare malformation, the life-threatening sequelae of meningitis that can result from the dysfunctional anatomy makes it a condition that requires elevated clinical vigilance, especially when considering children with hearing loss associated with recurrent meningitis, otorrhea, or rhinorrhea.

  12. Spondyloepiphyseal dysplasia tarda in Turner syndrome.

    PubMed

    Massa, G; Vanderschueren-Lodeweyckx, M

    1989-11-01

    A girl with short stature is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This is the first report of the occurrence of X-linked spondyloepiphyseal dysplasia tarda in a child with Turner syndrome.

  13. Ectodermal dysplasia and abnormal thumbs.

    PubMed

    Lucky, A W; Esterly, N B; Tunnessen, W W

    1980-05-01

    Two unrelated children, a girl and a boy, with alopecia, anomalous cutaneous pigmentation, abnormal thumbs, and endocrine disorders, including short stature and delayed bone age in one patient and juvenile onset diabetes mellitus in the other, are described. In one instance, the mother and the maternal grandmother had similar abnormalities, although of a less severe nature. Both children had normal nails and no unusual susceptibility to infections. We believe these two patients represent a previously undescribed syndrome of ectodermal dysplasia that may be inherited as an autosomal-dominant trait.

  14. Ectodermal dysplasia in identical twins

    PubMed Central

    Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

    2013-01-01

    Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facial esthetics and psychology of patients affected by this disease. PMID:23956595

  15. Conservative Management of Hip Dysplasia.

    PubMed

    Harper, Tisha A M

    2017-07-01

    Hip dysplasia (HD) is a common orthopedic condition seen in small animal patients that leads to osteoarthritis of the coxofemoral joint. The disease can be managed conservatively or surgically. The goals of surgical treatment in the immature patient are to either prevent the clinical signs of HD or to prevent or slow the progression of osteoarthritis. In mature patients surgery is used as a salvage procedure to treat debilitating osteoarthritis. Conservative management can be used in dogs with mild or intermittent clinical signs and includes nutritional management and weight control, exercise modification, physical rehabilitation, pain management and disease-modifying agents. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Diagnosis and management of gastric dysplasia

    PubMed Central

    Sung, Jae Kyu

    2016-01-01

    Gastric dysplasia is a neoplastic lesion and a precursor of gastric cancer. The Padova, Vienna, and World Health Organization classifications were developed to overcome the discrepancies between Western and Japanese pathologic diagnoses and to provide a universally accepted classification of gastric epithelial neoplasia. At present, the natural history of gastric dysplasia is unclear. Much evidence suggests that patients with high-grade dysplasia are at high risk of progression to carcinoma or synchronous carcinoma. Therefore, endoscopic resection is required. Although patients with low-grade dysplasia have been reported to be at low risk of progression to carcinoma, due to the marked histologic discrepancies between forceps biopsy and endoscopic specimens, endoscopic resection for this lesion is recommended, particularly in the presence of other risk factors (large size; depressed gross type; surface erythema, unevenness, ulcer, or erosion; and tubulovillous or villous histology). Helicobacter pylori eradication in patients with dysplasia after endoscopic resection appear to reduce the incidence of metachronous lesions. PMID:26932397

  17. Immunohistochemical staining patterns of cytokeratins 13, 14, and 17 in oral epithelial dysplasia including orthokeratotic dysplasia.

    PubMed

    Nobusawa, Aiko; Sano, Takaaki; Negishi, Akihide; Yokoo, Satoshi; Oyama, Tetsunari

    2014-01-01

    Diagnosis of the exact grade of oral epithelial dysplasia is difficult, and interobserver variations in grading are common. The aim of this study was to investigate the expression patterns of cytokeratins (CKs) in dysplastic oral epithelia, to identify useful double immunostaining diagnostic markers. Immunoexpression of CK13, CK14, CK17, and Ki-67 were investigated in 21 normal epithelial specimens and 146 epithelial dysplasia specimens. In epithelial dysplasia specimens, orthokeratotic dysplasia (OKD) was identified using CK10 immunostaining. Most mild dysplasia specimens were CK13+ and CK17-. In moderate dysplasia, CK13 expression tended to be lower and CK17 expression tended to be higher than in mild dysplasia. All carcinoma in situ (CIS) specimens were CK17+. In differentiated type CIS specimens, CK13 expression was weakly positive. Most epithelial dysplasia specimens were CK14+. There were no significant differences in the expression patterns of CKs between OKD and non-OKD specimens in any of the grades of dysplasia. These results indicate that CK14 expression can be used to detect early epithelial dysplasia, and that CK13 and CK17 expression are useful for detecting neoplastic changes. © 2014 The Authors. Pathology International © 2014 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd.

  18. Progressive Pseudorheumatoid Dysplasia or JIA?

    PubMed Central

    2017-01-01

    Progressive pseudorheumatoid dysplasia (PPD) or spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare arthropathy of childhood involving the axial skeleton as well as small peripheral joints. A 10-year-old boy was referred by a general practitioner with pain and deformity in the fingers of hands and limping gait. There was no joint synovitis although the finger joints were bulky on examination with mild flexion deformity. Patient had exaggerated kyphosis and lumbar lordosis with pigeon chest and restricted hip joint movements. Anteroposterior X-rays of the hip joints revealed widened and flattened epiphyses of the femoral heads with narrow and irregular joint spaces. Hand X-rays revealed periarticular osteopenia, significant narrowing of the joint spaces of proximal interphalangeal, and distal interphalangeal joints, together with osseous enlargement of the basis of metacarpal bones and phalanges. Spinal X-rays revealed generalized platyspondyly and anterior beaking of vertebral bodies. There was a clear mega os trigonum in his feet images. All blood investigations were normal with no evidence of inflammation and thyroid hormone levels were normal. The diagnosis of PPD was favored by imaging studies and normal inflammatory markers and the patient was treated with physiotherapy, family counseling, and anti-inflammatory medications. PMID:28316857

  19. DYSPLASIA OF HIP DEVELOPMENT: UPDATE

    PubMed Central

    Guarniero, Roberto

    2015-01-01

    The term “developmental dysplasia of the hip” (DDH) includes a wide spectrum of abnormalities that affect the hip during its growth, ranging from dysplasia to joint dislocation and going through different degrees of coxofemoral subluxation. The incidence of DDH is variable, and depends on a number of factors, including geographical location. Approximately one in 1,000 newborn infants may present hip dislocation and around 10 in 1,000 present hip instability. Brazil has an incidence of five per 1,000 in terms of findings of a positive Ortolani sign, which is the early clinical sign for detecting the disorder. The risk factors for DDH include: female sex, white skin color, primiparity, young mother, breech presentation at birth, family history, oligohydramnios, newborns with greater weight and height, and deformities of the feet or spine. Hip examinations should be routine for newborns, and should be emphasized in maternity units. Among newborns and infants, the diagnosis of DDH is preeminently clinical and is made using the Ortolani and Barlow maneuvers. Conventional radiography is of limited value for confirming the diagnosis of DDH among newborns, and ultrasound of the hip is the ideal examination. The treatment of DDH is challenging, both for pediatric orthopedists and for general practitioners. The objectives of the treatment include diagnosis as early as possible, joint reduction and stabilization of the hip in a secure position. Classically, treatment options are divided according to different age groups, at the time of diagnosis. PMID:27022528

  20. Metatropic Dysplasia with a Novel Mutation in TRPV4.

    PubMed

    Narayanan, Dhanya Lakshmi; Bhavani, Gandham SriLakshmi; Girisha, Katta Mohan; Phadke, Shubha R

    2016-08-08

    Metatropic dysplasia is a skeletal dysplasia characterized by rhizomelia, severe kyphoscoliosis and a coccygeal tail. A 12 day-old male neonate had facial dysmorphism, short limbs and coccygeal tail and showed radiological features of metatropic dysplasia. A novel heterozygous variant was observed in TRPV4 gene. We report a novel mutation in an Indian neonate with metatropic dysplasia.

  1. Fibrous Dysplasia in the Epiphysis of the Distal Femur

    PubMed Central

    Noh, Jung Ho; Lee, Jae Woo

    2017-01-01

    Fibrous dysplasia is a common benign skeletal lesion that may involve a single bone or multiple bones. Although fibrous dysplasia can affect any bone, monostotic fibrous dysplasia of the long bone typically occurs in the diaphysis or metaphysis. We report a very rare case of monostotic fibrous dysplasia involving the epiphysis of the distal femur in a young man. PMID:28231652

  2. A regulatory feedback loop involving p63 and IRF6 links the pathogenesis of 2 genetically different human ectodermal dysplasias.

    PubMed

    Moretti, Francesca; Marinari, Barbara; Lo Iacono, Nadia; Botti, Elisabetta; Giunta, Alessandro; Spallone, Giulia; Garaffo, Giulia; Vernersson-Lindahl, Emma; Merlo, Giorgio; Mills, Alea A; Ballarò, Costanza; Alemà, Stefano; Chimenti, Sergio; Guerrini, Luisa; Costanzo, Antonio

    2010-05-01

    The human congenital syndromes ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome, ankyloblepharon ectodermal dysplasia clefting, and split-hand/foot malformation are all characterized by ectodermal dysplasia, limb malformations, and cleft lip/palate. These phenotypic features are a result of an imbalance between the proliferation and differentiation of precursor cells during development of ectoderm-derived structures. Mutations in the p63 and interferon regulatory factor 6 (IRF6) genes have been found in human patients with these syndromes, consistent with phenotypes. Here, we used human and mouse primary keratinocytes and mouse models to investigate the role of p63 and IRF6 in proliferation and differentiation. We report that the DeltaNp63 isoform of p63 activated transcription of IRF6, and this, in turn, induced proteasome-mediated DeltaNp63 degradation. This feedback regulatory loop allowed keratinocytes to exit the cell cycle, thereby limiting their ability to proliferate. Importantly, mutations in either p63 or IRF6 resulted in disruption of this regulatory loop: p63 mutations causing ectodermal dysplasias were unable to activate IRF6 transcription, and mice with mutated or null p63 showed reduced Irf6 expression in their palate and ectoderm. These results identify what we believe to be a novel mechanism that regulates the proliferation-differentiation balance of keratinocytes essential for palate fusion and skin differentiation and links the pathogenesis of 2 genetically different groups of ectodermal dysplasia syndromes into a common molecular pathway.

  3. Fibromuscular dysplasia: a rare disease that can mimic vasculitis.

    PubMed

    Capsoni, Franco; Poletto, Giorgio; Giorgetti, Pier Luigi

    2012-12-01

    Fibromuscular dysplasia (FMD) is an uncommon angiopathy that occurs mainly in young to middle-aged female individuals. It is an idiopathic, segmental, non-inflammatory and non-atherosclerotic vascular disease leading to stenosis of small- and medium-sized arteries. Clinical manifestations are determined by the artery involved, most commonly hypertension (renal artery) and stroke (carotid artery). When FMD affects multiple vascular beds, it may mimic a systemic vasculitis. Here, we present the case of a young female patient with FMD. The patient had a clinical history of bilateral internal carotid artery dissection that required surgical repair. Since a systemic vascular disease was suspected, abdominal angiography was done, showing evidence of a "string of beads" appearance involving the distal two-thirds of the right renal artery. This lesion is considered to be pathognomonic of the medial FMD that accounts for 70-95% of all cases of FMD. Two years later, a new magnetic resonance angiography confirmed the "string of beads" appearance of the middle to distal part of the right renal artery, with significant hemodynamic stenosis that was successfully dilated with percutaneous transluminal angioplasty.

  4. Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia.

    PubMed

    Harrison, Shannon; Sinclair, Rodney

    2004-05-01

    We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits. Nail changes included shortened nail plate with distal onycholysis and loss of the cuticle. Sweating and teeth were normal. Development was normal. Scanning electron microscopy of the hair only demonstrated trichorrhexis nodosa. There was no pili torti. Vertically sectioned scalp biopsy revealed hypoplastic hair follicles and a horizontally sectioned biopsy showed a decrease in the overall number of hair follicles present. Treatment with topical minoxidil 5% 1 mL twice each day massaged into the scalp led to only minimal improvement and was discontinued after 12 months.

  5. Congenital hypothyroidism

    PubMed Central

    2010-01-01

    Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis

  6. Epithelial Dysplasia and Cancer in IBD Strictures.

    PubMed

    Sonnenberg, Amnon; Genta, Robert M

    2015-09-01

    Colonic strictures and epithelial dysplasia are both known risk factors for the occurrence of colorectal cancer in inflammatory bowel disease (IBD) patients. The aim of the present work was to study colonic stricture as a risk factor for the occurrence of epithelial dysplasia and colonic adenocarcinoma. In a case-control study among 53568 IBD patients undergoing colonoscopy, we compared the prevalence of strictures among cases with dysplasia or adenocarcinoma and controls without such complications by calculating odds ratios (ORs) and their 95% confidence intervals (CIs). Multivariate logistic regressions were used to assess the joint influence of multiple predictor variables (age, sex, IBD type and stricture) on the occurrence of colonic dysplasia or adenocarcinoma. The prevalence of strictures was 1.06% in ulcerative colitis (UC) and 8.71% in Crohn's disease (CD, OR 11.09, 95% CI 9.72-12.70). The prevalence of dysplasia was 3.22% in UC and 2.08% in CD (OR 0.75, 95% CI 0.65-0.86). The prevalence of dysplasia was similar in IBD patients with and without stricture: 2.82 and 2.41%, respectively. The prevalence of cancer was higher in IBD patients with than without stricture: 0.78 and 0.11%, respectively (OR 6.87, 95% CI 3.30-12.89). In the multivariate analysis, old age, male sex and UC, but not stricture, were all significantly and independently associated with dysplasia. Old age, dysplasia and stricture were significantly and independently associated with cancer. The prevalence of epithelial dysplasia is not generally increased in IBD patients with strictures. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation (ECCO) 2015. This work is written by US Government employee and is in the public domain in the US.

  7. Risk factors associated with Barrett's epithelial dysplasia.

    PubMed

    Fujita, Mikiko; Nakamura, Yuri; Kasashima, Saeko; Furukawa, Maiko; Misaka, Ryoichi; Nagahara, Hikaru

    2014-04-21

    To elucidate risk factors associated with dysplasia of short-segment Barrett's esophagus (BE). A total of 151 BE patients who underwent endoscopic examination from 2004 to 2008 in Aoyama Hospital, Tokyo Women's Medical University, Japan and whose diagnosis was confirmed from biopsy specimens were enrolled in the study. BE was diagnosed based on endoscopic findings of gastric-appearing mucosa or apparent columnar-lined esophagus proximal to the esophagogastric junction. Dysplasia was classified into three grades - mild, moderate and severe - according to the guidelines of the Vienna Classification System for gastrointestinal epithelial neoplasia. Anthropometric and biochemical data were analyzed to identify risk factors for BE dysplasia. The prevalence of Helicobacter pylori (H. pylori) infection and the expression of p53 by immunohistological staining were also investigated. Histological examination classified patients into three types: specialized columnar epithelium (SCE) (n = 65); junctional (n = 38); and gastric fundic (n = 48). The incidence of dysplasia or adenocarcinoma from BE of the SCE type was significantly higher than that of the other two types (P < 0.01). The univariate analysis revealed that sex, H. pylori infection, body weight, p53 overexpression, and low diastolic blood pressure (BP) were associated with BE dysplasia. In contrast, body mass index, waist circumference, metabolic syndrome complications, and variables related to glucose or lipid metabolism were not associated with dysplasia. Multivariate logistic analysis showed that overexpression of p53 [odds ratio (OR) = 13.1, P = 0.004], H. pylori infection (OR = 0.19, P = 0.066), and diastolic BP (OR = 0.87, P = 0.021) were independent risk factors for epithelial dysplasia in BE patients with the SCE type. Overexpression of p53 is a risk factor for dysplasia of BE, however, H. pylori infection and diastolic BP inversely associated with BE dysplasia might be protective.

  8. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  9. Fetal lung dysplasia: clinical outcome based on a new classification system.

    PubMed

    Achiron, R; Zalel, Y; Lipitz, S; Hegesh, J; Mazkereth, R; Kuint, J; Jacobson, J; Yagel, S

    2004-08-01

    immediate surgical repair. Type V miscellaneous dysplasia: One fetus demonstrated echogenic lung with split notochord syndrome and survived. Congenital bronchopulmonary and related vascular anomalies can be categorized using the new classification system. This new approach enabled prenatal evaluation of each lung component and facilitated cogent management of the fetus with congenital lung dysplasia. Copyright 2004 ISUOG

  10. The "pirate sign" in fibrous dysplasia.

    PubMed

    Singnurkar, Amit; Rush, Chris

    2006-11-01

    Fibrous dysplasia commonly involves the skull in both its monostotic and polyostotic variants. We present two cases of fibrous dysplasia involving the sphenoid wing, which were strikingly similar in their bone scan appearance. Both patients demonstrated intense increased uptake of Tc-99m MDP in a pattern reminding us of a "pirate wearing an eyepatch." We propose that this characteristic appearance of fibrous dysplasia of the sphenoid wing be called the "pirate sign." A review of the literature revealed several other pathologic conditions that have been reported to involve the sphenoid bone and should be considered in the differential diagnosis of abnormal bone tracer uptake in this region.

  11. [Congenital hypomagnesemia].

    PubMed

    Montaigne, David; Perimenis, Pierrette; Douillard, Claire; Wemeau, Jean-Louis; Vantyghem, Marie-Christine

    2004-11-06

    MORE PRECISE IDENTIFICATION: The progress in molecular genetics has led to better understanding of primitive magnesium deficiency. Transporters of this cation have been identified in the intestines and kidneys. The majority of congential hypomanesemia phenotypes have been correlated with a defect in magnesium transport. The primary deficiency of intestinal absorption of magnesium is responsible for hypomagnesemia and subsequent hypocalcemia. DEPENDING ON THE MECHANISM: Magnesium absorption defects in Henle's loop induce hypomagnesemia with hypercalciuria and nephrocalcinosis, autosomal dominant hypocalcemia or Bartter syndrome. In isolated dominant hypomagnesemia and Gitelman syndrome, an abnormality in the distal convoluted tubule explains the primitive hypomagnesemia, through renal leaking. Conversely, the mechanisms of recessive isolated hypomagnesemia remains unknown. ORIENTING GENETIC DIAGNOSIS: In a context of primitive hypomagnesemia, the clinical and biological presentation will orient genetic research leading to correct diagnosis. However, there are many border-line phenotypes and the pheno-genotype correlation is still imperfect.

  12. Histogenesis of retinal dysplasia in trisomy 13

    PubMed Central

    Chan, Ada; Lakshminrusimha, Satyan; Heffner, Reid; Gonzalez-Fernandez, Federico

    2007-01-01

    Background Although often associated with holoprosencephaly, little detail of the histopathology of cyclopia is available. Here, we describe the ocular findings in a case of trisomy 13 to better understand the histogenesis of the rosettes, or tubules, characteristic of the retinal dysplasia associated with this condition. Methods A full pediatric autopsy was performed of a near term infant who died shortly after birth from multiple congenital anomalies including fused facial-midline structures. A detailed histopathological study of the ocular structures was performed. The expression of interphotoreceptor retinoid-binding protein (IRBP), cellular retinal-binding protein (CRALBP), rod opsin, and Sonic Hedgehog (Shh) were studied by immunohistochemistry. Results Holoprosencephaly, and a spectrum of anatomical findings characteristic of Patau's syndrome, were found. Cytogenetic studies demonstrated trisomy 13 [47, XY, +13]. The eyes were fused but contained two developed separate lenses. In contrast, the cornea, and angle structures were hypoplastic, and the anterior chamber had failed to form. The retina showed areas of normally laminated neural retina, whereas in other areas it was replaced by numerous neuronal rosettes. Histological and immunohistochemical studies revealed that the rosettes were composed of differentiated retinal neurons and Müller cell glia. In normally laminated retina, Shh expression was restricted to retinal-ganglion cells, and to a population of neurons in the inner zone of the outer nuclear layer. In contrast, Shh could not be detected in the dysplastic rosettes. Conclusion The histopathology of cyclopia appears to be more complex than what may have been previously appreciated. In fact, the terms "cyclopia" and "synophthalmia" are misnomers as the underlying mechanism is a failure of the eyes to form separately during development. The rosettes found in the dysplastic retina are fundamentally different than those of retinoblastoma, being

  13. Congenital Heart Disease in Adults

    MedlinePlus

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  14. Prosthetic rehabilitation of a cleidocranial dysplasia patient with vertical maxillofacial deficiency: a clinical report.

    PubMed

    Noh, Kwantae; Kwon, Kung-Rock; Ahn, Hyowon; Paek, Janghyun; Pae, Ahran

    2014-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder characterized by skeletal and dental anomalies. This clinical report describes the prosthodontic approach to treating a CCD patient who presented with decreased facial height and relative mandibular protrusion due to maxillary hypoplasia after orthodontic treatment. Functional and esthetic rehabilitation was achieved using telescopic detachable prostheses in the maxilla and osseointegrated implants and metal-ceramic fixed dental prostheses in the mandible. These treatment approaches precluded the need for orthognathic surgical correction and presented a favorable prognosis during the 5-year observation period. © 2013 American College of Prosthodontists.

  15. Congenital inner ear malformations without sensorineural hearing loss.

    PubMed

    Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

    2008-03-01

    It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

  16. Cleidocranial dysplasia with hearing loss

    PubMed Central

    Candamourty, Ramesh; Venkatachalam, Suresh; Yuvaraj, Vaithilingam; Kumar, Ganesan Suresh

    2013-01-01

    Cleidocranial dysplasia is an inherited skeletal anomaly that affects primarily the skull, clavicle, and dentition, which can occur spontaneously, but most are inherited in autosomal dominant mode. The skull findings are brachycephaly, delayed or failed closure of the fontanelles, presence of open skull sutures and multiple wormian bones with pronounced frontal bossing. The syndrome is notable for aplasia or hypoplasia of the clavicles. The neck appears long and narrow and the shoulders markedly droop. Oral manifestations exhibit a hypoplastic maxilla with high-arched palate. Crowding of teeth is produced by retention of deciduous teeth, delayed eruption of permanent teeth, and the presence of a large number of unerupted supernumerary teeth. We report a case of CCD in a 12-year-old girl who presented with an unaesthetic facial appearance, unerupted permanent dentition with hearing loss. PMID:23633875

  17. Hypoxic Episodes in Bronchopulmonary Dysplasia

    PubMed Central

    Martin, Richard J.; Di Fiore, Juliann M.; Walsh, Michele C.

    2015-01-01

    Hypoxic episodes are troublesome components of bronchopulmonary dysplasia in preterm infants. Immature respiratory control appears to be the major contributor, typically superimposed upon abnormal respiratory function. As a result, relatively short respiratory pauses may precipitate desaturation and accompanying bradycardia. As this population is predisposed to pulmonary hypertension, it is likely that pulmonary vasoconstriction may also play a role in hypoxic episodes. The natural history of intermittent hypoxic episodes has been well characterized in the preterm population at risk for BPD. However, the consequences of these episodes are less clear. Proposed associations of intermittent hypoxia include retinopathy of prematurity, sleep disordered breathing, and neurodevelopmental delay. Future study should address whether these associations are causal relationships. PMID:26593081

  18. Genetic Predisposition to Bronchopulmonary Dysplasia

    PubMed Central

    Vivek Lal, Charitharth; Ambalavanan, Namasivayam

    2015-01-01

    Objective To review the candidate gene and genome-wide association studies relevant to bronchopulmonary dysplasia, and discuss the emerging understanding of the complexities involved in genetic predisposition to bronchopulmonary dysplasia and its outcomes. Findings Genetic factors contribute much of the variance in risk for BPD. Studies to date evaluating single or a few candidate genes have not been successful in yielding results that are replicated in GWAS, perhaps due to more stringent p-value thresholds. GWAS studies have identified only a single gene (SPOCK2) at genome-wide significance in a European White and African cohort, which was not replicated in two North American studies. Pathway gene set analysis in a North American cohort confirmed involvement of known pathways of lung development and repair (e.g. CD44, phosphorus oxygen lyase activity) and indicated novel molecules and pathways (e.g. adenosine deaminase, targets of miR-219) involved in genetic predisposition to BPD. The genetic basis of severe BPD is different from that of mild/moderate BPD, and the variants/pathways associated with BPD vary by race/ethnicity. A pilot study of whole exome sequencing identified hundreds of genes of interest, and indicated the overall feasibility as well as complexity of this approach. Conclusion Better phenotyping of BPD by severity and pathophysiology, and careful analysis of race/ethnicity is required to gain a better understanding of the genetic basis of BPD. Future translational studies are required for the identification of potential genetic predispositions (rare variants and dysregulated pathways) by next generation sequencing methods in individual infants (personalized genomics). PMID:26471063

  19. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported.

  20. [Cyanosis in adult with congenital heart disease].

    PubMed

    Saitta, M

    2010-01-01

    Cyanosis is negative predictor of survival in adult patients with congenital heart disease. When cyanosis is secondary to heart or lung disease, chronic hypoxiemia result in hematologic, neurologic, renal and reumatic complications . Is important,for the optimization of therapeutics procedure, the follow up of heart disease and of oxygen saturation and blood work. For the care of this patients are required specialized centers with a multidisciplinary team of experts.

  1. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  2. Genetics Home Reference: hypohidrotic ectodermal dysplasia

    MedlinePlus

    ... structures including the skin , hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than ...

  3. Skeletal Dysplasias: Growing Therapy for Growing Bones

    PubMed Central

    Jelin, Angie C.; O'Hare, Elizabeth; Blakemore, Karin; Jelin, Eric B.; Valle, David; Hoover-Fong, Julie

    2017-01-01

    Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth. Thereafter a variety of orthopedic, neurosurgical, pulmonary, otolaryngology interventions may be needed. In terms of definitive treatment for skeletal dysplasias, there are few pharmacotherapeutic options available for the majority of these conditions. We sought to describe therapies that are currently available or under investigation for skeletal dysplasias. PMID:28321190

  4. Developmental Dislocation (Dysplasia) of the Hip (DDH)

    MedlinePlus

    ... developmental dysplasia (dislocation) of the hip (DDH), the hip joint has not formed normally. The ball is loose ... be taken to provide detailed pictures of the hip joint. Treatment When DDH is detected at birth, it ...

  5. Leber Congenital Amaurosis

    MedlinePlus

    ... Campaign to End Blindness Other Ways to Fight Blindness Corporate Support Volunteer Take Action You are here ... confused with congenital and hereditary optic atrophy, cortical blindness, congenital stationary night blindness, flecked retina syndrome, and ...

  6. Frontonasal dysplasia associated with tetralogy of Fallot.

    PubMed Central

    De Moor, M M; Baruch, R; Human, D G

    1987-01-01

    Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasia associated with a cardiac defect. Multifactorial inheritance of this syndrome is proposed. Images PMID:3560167

  7. Congenital anomalies of kidney and urinary tract.

    PubMed

    Toka, Hakan R; Toka, Okan; Hariri, Ali; Nguyen, Hiep T

    2010-07-01

    Congenital anomalies of the kidney and urinary tract anatomy (CAKUT) are common in children and represent approximately 30% of all prenatally diagnosed malformations. CAKUT is phenotypically variable and can affect the kidney(s) alone and/or the lower urinary tract. The spectrum includes more common anomalies such as vesicoureteral reflux and, rarely, more severe malformations such as bilateral renal agenesis. In young children, congenital anomalies are the leading cause of kidney failure and for kidney transplantation or dialysis. CAKUT can also lead to significant renal problems in adulthood and may present itself with hypertension and/or proteinuria. Congenital renal anomalies can be sporadic or familial, syndromic (also affecting nonrenal or non-urinary tract tissues), or nonsyndromic. Genetic causes have been identified for the syndromic forms and have shed some light into the molecular mechanisms of kidney development in human beings. The genetic causes for the more common nonsyndromic forms of CAKUT are unknown. The role of prenatal interventions and postnatal therapies as well as the benefits of screening affected individuals and their family members are not clear.

  8. [Genetics of congenital cardiopathies].

    PubMed

    Moreno García, M; Gómez Rodríguez, M J; Barreiro Miranda, E

    2000-07-01

    Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

  9. Neuroimaging of focal cortical dysplasia: neuropathological correlations.

    PubMed

    Colombo, Nadia; Citterio, Alberto; Galli, Carlo; Tassi, Laura; Lo Russo, Giorgio; Scialfa, G; Spreafico, Roberto

    2003-09-01

    Focal cortical dysplasia is a well-known cause of intractable epilepsy with early onset of seizures, and is potentially amenable to surgical therapy. It was first described by Taylor in 1971 as a peculiar malformative disorganisation of the neocortex characterised at histology by loss of cortical lamination and accompanied by giant, dysmorphic neurones and, most frequently, by "balloon cells" littered throughout the cortex and sub-cortical white matter. While in the past decades the term "cortical dysplasia" has referred to various malformations of cortical development, such as agyria, pachygyria, polymicrogyria, heterotopia and hemimegalencephaly, it is now widely accepted that the entity identified by Taylor should be considered separately, from both histological and neuroimaging standpoints. More recently, the recognition of various histological subtypes of focal cortical dysplasia characterised by different degrees of cortical disruption with or without cytological abnormalities has generated several classifications that are still unsatisfactory. With better magnetic resonance capability, subtle and very small focal cortical dysplasias may now be visualised and the differential magnetic resonance aspects of the histological subgroups can be established. We will discuss the problem of histopathological classification and magnetic resonance imaging differentiation of the various subtypes of focal cortical dysplasia in the light of personal data collected from a large series of epileptic patients who underwent surgery and had a histological diagnosis of focal cortical dysplasia. Copyright John Libbey Eurotext 2003.

  10. The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

    PubMed

    Groza, Tudor; Hunter, Jane; Zankl, Andreas

    2012-03-26

    Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources. We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field. The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution.

  11. The renal scan in pregnant renal transplant patients

    SciTech Connect

    Goldstein, H.A.; Ziessman, H.A.; Fahey, F.H.; Collea, J.V.; Alijani, M.R.; Helfrich, G.B.

    1985-05-01

    With the greater frequency of renal transplant surgery, more female pts are becoming pregnant and carrying to term. In the renal allograft blood vessels and ureter may be compressed resulting in impaired renal function and/or, hypertension. Toxemia of pregnancy is seen more frequently than normal. Radionuclide renal scan monitoring may be of significant value in this high risk obstetrical pt. After being maintained during the pregnancy, renal function may also deteriorate in the post partum period. 5 pregnant renal transplant pts who delivered live babies had renal studies with Tc-99m DTPA to assess allograft perfusion and function. No transplanted kidney was lost during or after pregnancy as a result of pregnancy. No congenital anomalies were associated with transplant management. 7 studies were performed on these 5 pts. The 7 scans all showed the uterus/placenta. The bladder was always distorted. The transplanted kidney was rotated to a more vertical position in 3 pts. The radiation dose to the fetus is calculated at 0.024 rad/mCi administered. This study demonstrates the anatomic and physiologic alterations expected in the transplanted kidney during pregnancy when evaluated by renal scan and that the radiation burden may be acceptable in management of these pts.

  12. Renal abnormalities in the Bardet-Biedl syndrome.

    PubMed

    Tieder, M; Levy, M; Gubler, M C; Gagnadoux, M F; Broyer, M

    1982-09-01

    Four cases of BARDET-Biedl syndrome (BBS) are described which all suffer from renal abnormalities. Polyuria or polydipsia with impairment of renal concentration capacity were the earliest signs of renal dysfunction. Renal insufficiency developed in 3 cases and hypertension in two. Urographic abnormalities were demonstrated in all patients. The most remarkable features were cystic spaces communicating with the calices and lobulation of kidney. Caliceal clubbing and caliectasis surrounded by narrowed, unscarred parenchyma were frequent findings. Previous investigators reported various renal histological pictures in BBS. We found tubulo- interstitial lesions in all cases. Features of dysplasia and cystic formations were less frequent. Mesangial proliferation was not noted. Ultra-structural changes in the glomerular basement membrane were not observed in this study. Thirty-one of 32 recently reported cases of BBS included renal lesions which are the major cause of death. It is therefore suggested that renal abnormalities are accepted as the cardinal feature of this syndrome.

  13. Pulmonary vascular development goes awry in congenital lung abnormalities.

    PubMed

    Kool, Heleen; Mous, Daphne; Tibboel, Dick; de Klein, Annelies; Rottier, Robbert J

    2014-12-01

    Pulmonary vascular diseases of the newborn comprise a wide range of pathological conditions with developmental abnormalities in the pulmonary vasculature. Clinically, pulmonary arterial hypertension (PH) is characterized by persistent increased resistance of the vasculature and abnormal vascular response. The classification of PH is primarily based on clinical parameters instead of morphology and distinguishes five groups of PH. Congenital lung anomalies, such as alveolar capillary dysplasia (ACD) and PH associated with congenital diaphragmatic hernia (CDH), but also bronchopulmonary dysplasia (BPD), are classified in group three. Clearly, tight and correct regulation of pulmonary vascular development is crucial for normal lung development. Human and animal model systems have increased our knowledge and make it possible to identify and characterize affected pathways and study pivotal genes. Understanding of the normal development of the pulmonary vasculature will give new insights in the origin of the spectrum of rare diseases, such as CDH, ACD, and BPD, which render a significant clinical problem in neonatal intensive care units around the world. In this review, we describe normal pulmonary vascular development, and focus on four diseases of the newborn in which abnormal pulmonary vascular development play a critical role in morbidity and mortality. In the future perspective, we indicate the lines of research that seem to be very promising for elucidating the molecular pathways involved in the origin of congenital pulmonary vascular disease.

  14. A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.

    PubMed

    Hing, Anne V; Leblond, Christy; Sze, Raymond W; Starr, Jacqueline R; Monks, Stephanie; Parisi, Melissa A

    2006-04-15

    We describe a novel autosomal recessive malformation syndrome in four related individuals from a geographically isolated Native Alaskan community, who have facial defects similar to those of individuals with Treacher Collins (TCS) and Miller syndrome. Distinctive findings include malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect is normal and profound mixed hearing loss has been observed in affected adults. Variable extracranial findings include atrioseptal defect, renal dysplasia, and imperforate anus, however, no limb defects have been observed. Cranial imaging studies demonstrate relative prominence of the zygoma, inferior orbital maxillary hypoplasia, and lateral orbital wall defects with an accessory superior bony projection off the zygoma lateral to the orbital rim. We propose that these individuals have inherited a novel autosomal recessive condition we have termed oculo-oto-facial dysplasia (OOFD) with unique radiographic findings. Copyright 2006 Wiley-Liss, Inc.

  15. Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

    PubMed Central

    2011-01-01

    Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features being skeletal dysplasia, T cell deficiency, and renal failure. We present a child with severe SIOD who developed rituximab resistant Evans syndrome (ES). Consistent with observations in several other immunodeficiency disorders, a review of SIOD patients showed that approximately a fifth of SIOD patients have some features of autoimmune disease. To our best knowledge this case represents the first patient with SIOD and rituximab resistant ES and the first study of autoimmune disease in SIOD. PMID:21914180

  16. Autopsy Renal Pathology.

    PubMed

    Paueksakon, Paisit; Fogo, Agnes B

    2014-09-01

    We provide an overview of assessment of the kidneys at autopsy, with special considerations for pediatric versus adult kidneys. We describe the approach to gross examination, tissue allocation when needed for additional studies of potential medical renal disease, the spectrum of congenital abnormalities of the kidneys and urinary tract, and approach to cystic diseases of the kidney. We also discuss common lesions seen at autopsy, including acute tubular injury, ischemic versus toxic contributions to this injury, interstitial nephritis, and common vascular diseases. Infections commonly involve the kidney at autopsy, and the key features and differential diagnoses are also discussed.

  17. Paracellin-1 gene mutation with multiple congenital abnormalities.

    PubMed

    Türkmen, Mehmet; Kasap, Belde; Soylu, Alper; Böber, Ece; Konrad, Martin; Kavukçu, Salih

    2006-11-01

    Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an autosomal recessive renal tubular disorder characterized by renal magnesium wasting, hypercalciuria, advanced nephrocalcinosis and progressive renal failure. Mutations in the paracellin-1 (CLDN16) gene have been defined as the underlying genetic defect. The tubular disorders and progression in renal failure are usually resistant to magnesium substitution and hydrochlorothiazide therapy, but hypomagnesemia may improve with advanced renal insufficiency. We present a patient with a homozygous truncating CLDN16 gene mutation (W237X) who had early onset of renal insufficiency despite early diagnosis at 2 months. He also had additional abnormalities including horseshoe kidney, neonatal teeth, atypical face, cardiac abnormalities including coarctation of the aorta associated with atrial and ventricular septal defects, umbilical hernia and hypertrichosis. To the best of our knowledge, this is the youngest case diagnosed as familial hypomagnesemia with hypercalciuria and nephrocalcinosis and the first case having such additional congenital abnormalities independent of the disease itself.

  18. Expansive focal cemento-osseous dysplasia.

    PubMed

    Bulut, Emel Uzun; Acikgoz, Aydan; Ozan, Bora; Zengin, Ayse Zeynep; Gunhan, Omer

    2012-01-01

    To present a case of expansive focal cemento-osseous dysplasia and emphasize the importance of differential diagnosis. Cemento-osseous dysplasia is categorized into three subtypes on the basis of the clinical and radiographic features: Periapical, focal and florid. The focal type exhibits a single site of involvement in any tooth-bearing or edentulous area of the jaws. These lesions are usually asymptomatic; therefore, they are frequently diagnosed incidentally during routine radiographic examinations. Lesions are usually benign, show limited growth, and do not require further surgical intervention, but periodic follow-up is recommended because occasionally, this type of dysplasia progresses into florid osseous dysplasia and simple bone cysts are formed. A 24-year-old female patient was referred to our clinic for swelling in the left edentulous mandibular premolarmolar region and felt discomfort when she wore her prosthetics. She had no pain, tenderness or paresthesia. Clinical examination showed that the swelling in the posterior mandible that was firm, nonfluctuant and covered by normal mucosa. On panoramic radiography and computed tomography, a well defined lesion of approximately 1.5 cm in diameter of mixed density was observed. The swelling increased slightly in size over 2 years making it difficult to use prosthetics and, therefore, the lesion was totally excised under local anesthesia, and surgical specimens were submitted for histopathological examination. The histopathological diagnosis was focal cemento-osseous dysplasia. In the present case, because of the increasing size of the swelling making it difficult to use prosthetics, young age of the patient and localization of the lesion, in the initial examination, cemento-ossifying fibroma was suspected, and the lesion was excised surgically; the histopathological diagnosis confirmed it as focal cemento-osseous dysplasia. We present a case of expansive focal cemento-osseous dysplasia. Differential diagnosis

  19. Late-presenting developmental dysplasia of the hip in Jordanian males

    PubMed Central

    Samarah, Omar Q.; Hadidi, Fadi A. Al; Hamdan, Mohammad Q.; Hantouly, Ashraf T.

    2016-01-01

    Objectives: To describe the pattern of developmental dysplasia of the hip (DDH) in late presenting Jordanian male patients and identify the risk factors and associated findings. Methods: This is a retrospective study of 1145 male patients who attended the Pediatric Orthopedic Clinic for a DDH check up. This study was carried out in the Orthopedic Section, Special Surgery Department, Faculty of Medicine, The University of Jordan, Amman, Jordan between March 2011 and October 2014. Data was collected from medical records, and x-ray measurements were evaluated. Results: Of the 1145 male patients, 43 (3.75%) with 70 involved hips were diagnosed with late- presenting DDH. Being a first-born baby resulted in 41.9% increased risk for DDH. Cesarian delivery was significantly associated with an increased risk of hip dislocation (p=0.004) while normal delivery was significantly associated with acetabular dysplasia (p=0.004). No predictable risk factors were found in 44.2% patients with DDH. Bilateral cases were more common than unilateral cases: (26 [60.5%] versus 17 [39.5%]). Limited abduction was a constant finding in all dislocated hips (p<0.001). Associated conditions, such as club foot and congenital muscular torticollis were not observed. Conclusion: Cesarian section is a significant risk for dislocated hips while normal delivery is significantly associated with acetabular dysplasia. Bilateral DDH is more common than the unilateral. Club foot and torticollis were not observed in this series. PMID:26837397

  20. Fibromuscular dysplasia: an update for the headache clinician.

    PubMed

    O'Connor, Sarah C; Poria, Neil; Gornik, Heather L

    2015-05-01

    Fibromuscular dysplasia (FMD) is an uncommon vascular disease that presents with stenosis, aneurysm, dissection, beading, and tortuosity of medium-sized arteries. It primarily manifests in the renal and extracranial carotid and vertebral arteries, and is associated with major vascular events such as carotid artery dissection, renal artery dissection, ruptured aneurysm, transient ischemic attack, stroke, and myocardial infarction (due to coronary artery dissection). There is a wide spectrum of disease severity among FMD patients. Symptoms of FMD are related to the vascular beds involved and the severity of arterial stenoses. Headache is an extremely common and important symptom reported by patients with FMD, although the precise mechanism of headache in this population is not yet known. This review summarizes the most recent literature regarding FMD, including epidemiology, clinical manifestations, imaging practices, and treatment. Special attention will be paid to the association of headaches and FMD. Correct diagnosis, optimal medical management, and appropriate referral for vascular intervention are vital elements of the treatment of patients with FMD. There is a great need for more clinical research regarding the epidemiology, pathophysiology, and optimal treatment of headache in the FMD patient population. © 2015 American Headache Society.

  1. Internet search term affects the quality and accuracy of online information about developmental hip dysplasia.

    PubMed

    Fabricant, Peter D; Dy, Christopher J; Patel, Ronak M; Blanco, John S; Doyle, Shevaun M

    2013-06-01

    The recent emphasis on shared decision-making has increased the role of the Internet as a readily accessible medical reference source for patients and families. However, the lack of professional review creates concern over the quality, accuracy, and readability of medical information available to patients on the Internet. Three Internet search engines (Google, Yahoo, and Bing) were evaluated prospectively using 3 difference search terms of varying sophistication ("congenital hip dislocation," "developmental dysplasia of the hip," and "hip dysplasia in children"). Sixty-three unique Web sites were evaluated by each of 3 surgeons (2 fellowship-trained pediatric orthopaedic attendings and 1 orthopaedic chief resident) for quality and accuracy using a set of scoring criteria based on the AAOS/POSNA patient education Web site. The readability (literacy grade level) of each Web site was assessed using the Fleisch-Kincaid score. There were significant differences noted in quality, accuracy, and readability of information depending on the search term used. The search term "developmental dysplasia of the hip" provided higher quality and accuracy compared with the search term "congenital hip dislocation." Of the 63 total Web sites, 1 (1.6%) was below the sixth grade reading level recommended by the NIH for health education materials and 8 (12.7%) Web sites were below the average American reading level (eighth grade). The quality and accuracy of information available on the Internet regarding developmental hip dysplasia significantly varied with the search term used. Patients seeking information about DDH on the Internet may not understand the materials found because nearly all of the Web sites are written at a level above that recommended for publically distributed health information. Physicians should advise their patients to search for information using the term "developmental dysplasia of the hip" or, better yet, should refer patients to Web sites that they have

  2. Clinical features and teratogenic mechanisms of congenital absence of digits.

    PubMed

    Ogino, Toshihiko

    2007-08-01

    To have a better understanding of classification of congenital hand anomalies, clinical features and teratogenic mechanisms of congenital absence of digits including ulnar and radial deficiencies, cleft hand, symbrachydactyly and constriction band were reviewed. There seemed to be four different teratogenic mechanisms of congenital absence of digits. Ulnar and radial deficiencies have the same clinical features and the cause of these deficiencies is closely related to a deficit of mesenchymal cells in the limb-bud due to impairment before the formation of the limb-bud. Cleft hand, central polydactyly and osseous syndactyly were induced by the same treatment at the same developmental stage in rats. Roentgenograms of the clinical cases and skeletal changes of the anomalies in rats appear to demonstrate that cleft hand formation proceeds from osseous syndactylies and central polydactylies. The teratogenic mechanism of a cleft hand seemed to be failure of induction of digital rays in the hand plate. The sequence of anomalies from brachysyndactyly, or the atypical cleft hand, to the congenital amputation, can be regarded as equivalent to the category of transverse deficiency that is bony dysplasia of the hand. Congenital constriction ring syndrome appears after the formation of the digital rays.

  3. Renal transplantation in infants.

    PubMed

    Jalanko, Hannu; Mattila, Ilkka; Holmberg, Christer

    2016-05-01

    Renal transplantation (RTx) has become an accepted mode of therapy in infants with severe renal failure. The major indications are structural abnormalities of the urinary tract, congenital nephrotic syndrome, polycystic diseases, and neonatal kidney injury. Assessment of these infants needs expertise and time as well as active treatment before RTx to ensure optimal growth and development, and to avoid complications that could lead to permanent neurological defects. RTx can be performed already in infants weighing around 5 kg, but most operations occur in infants with a weight of 10 kg or more. Perioperative management focuses on adequate perfusion of the allograft and avoidance of thrombotic and other surgical complications. Important long-term issues include rejections, infections, graft function, growth, bone health, metabolic problems, neurocognitive development, adherence to medication, pubertal maturation, and quality of life. The overall outcome of infant RTx has dramatically improved, with long-term patient and graft survivals of over 90 and 80 %, respectively.

  4. Peripheral vestibular pathology in Mondini dysplasia.

    PubMed

    Kaya, Serdar; Hızlı, Ömer; Kaya, Fatıma Kübra; Monsanto, Rafael DaCosta; Paparella, Michael M; Cureoglu, Sebahattin

    2017-01-01

    In this study, our objective was to histopathologically analyze the peripheral vestibular system in patients with Mondini dysplasia. Comparative human temporal bone study. We assessed the sensory epithelium of the human vestibular system with a focus on the number of type I and type II hair cells, as well as the total number of hair cells. We compared those numbers in our Mondini dysplasia group versus our control group. The loss of type I and type II hair cells in the cristae of the superior, lateral, and posterior semicircular canals, as well as in the saccular and utricular macula, was significantly higher in our Mondini dysplasia group than in our control group. The total number of hair cells significantly decreased in the cristae of the superior, lateral, and posterior semicircular canals, as well as in the saccular and utricular macula, in our Mondini dysplasia group. Loss of vestibular hair cells can lead to vestibular dysfunction in patients with Mondini dysplasia. NA Laryngoscope, 127:206-209, 2017. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  5. [Oligomeganephronic renal hypoplasia complicated by glomerulonephritis].

    PubMed

    Kan'shina, N F; Rykov, V A; Lakhno, P A

    1990-01-01

    Clinico-anatomical data of a rare condition congenital oligomeganephronic renal hypoplasia with a glomerulonephritis as a complication are available for a 13-year-old girl who died of chronic renal failure. Large aglomerular zones consisting of primitive canaliculi in a loose stroma were observed in kidneys that were decreased in size. The glomeruli were few in number, some of them of a large size (2-2.5-fold), firmly attached to the capsule, with pronounced extracapillary proliferation.

  6. Congenital inner ear malformations without sensorineural hearing loss in children.

    PubMed

    Ozeki, Michio; Kato, Zenichiro; Sasai, Hideo; Kubota, Kazuo; Funato, Michinori; Orii, Kenji; Kaneko, Hideo; Fukao, Toshiyuki; Kondo, Naomi

    2009-10-01

    Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months. Clinical and neuro-otological examinations showed peripheral involvement of the vestibular system, while audiological investigation was normal. High-resolution magnetic resonance imaging, with three-dimensional reconstruction, showed dysplasia of the bilateral lateral semicircular canals (LSCCs). Isolated vestibular malformation might not be as rare as previously thought, and should be examined by imaging of the temporal bone.

  7. Congenital multi-organ malformations in a Holstein calf

    PubMed Central

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  8. Congenital interruption of the ampullary portion of the fallopian tube.

    PubMed

    Dahan, Michael H; Burney, Richard; Lathi, Ruth

    2006-06-01

    We present a rare case of a congenital isolated missing segment of the fallopian tube, including hysterosalpingographic and laparoscopic images. We conclude that when this occurs without concomitant müllerian anomalies, the mechanism of development would not be expected to be associated with an increase in renal abnormalities.

  9. Renal and adrenal tumors: Pathology, radiology, ultrasonography, therapy, immunology

    SciTech Connect

    Lohr, E.; Leder, L.D.

    1987-01-01

    Aspects as diverse as radiology, pathology, urology, pediatrics and immunology have been brought together in one book. The most up-do-date methods of tumor diagnosis by CT, NMR, and ultrasound are covered, as are methods of catheter embolization and radiation techniques in case of primarily inoperable tumors. Contents: Pathology of Renal and Adrenal Neoplasms; Ultrasound Diagnosis of Renal and Pararenal Tumors; Computed-Body-Tomography of Renal Carcinoma and Perirenal Masses; Magnetic Resonance Imaging of Renal Mass Lesions; I-125 Embolotherapy of Renal Tumors; Adrenal Mass Lesions in Infants and Children; Computed Tomography of the Adrenal Glands; Scintigraphic Studies of Renal and Adrenal Function; Surgical Management of Renal Cell Carcinoma; Operative Therapy of Nephroblastoma; Nonoperative Treatment of Renal Cell Carcinoma; Prenatal Wilms' Tumor; Congenital Neuroblastoma; Nonsurgical Management of Wilms' Tumor; Immunologic Aspects of Malignant Renal Disease.

  10. Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma.

    PubMed

    Kahn, Leonard B

    2003-05-01

    For just over 100 years, adamantinoma has been recognized as a primary bone tumor with epithelial characteristics and predominantly involving the tibia. Osteofibrous dysplasia is a fibro-osseous lesion also predominantly confined to the tibia with radiologic features similar to those of adamantinoma. This lesion has been shown by immunohistochemical studies to frequently contain cytokeratin-positive epithelial cells. More recently, a third group of cases with clinical and radiologic features similar to those of osteofibrous dysplasia have demonstrated more overt strands of epithelial cells within a fibro-osseous background and have been categorized as "differentiated", "regressive", "juvenile intracortical" or "osteofibrous dysplasia-like" adamantinoma. Cytokeratin subset immunohistochemical stains and cytogenetic studies performed in recent years suggest a common histogenesis for these three entities. This article reviews the clinical, radiologic and pathologic features of these entities as well as their prognostic significance. It also reviews the results of the immunohistochemical and cytogenetic studies which establish a common histogenetic relationship.

  11. Fibrous Dysplasia Characterization Using Lacunarity Analysis.

    PubMed

    Cordeiro, Mirna S; Backes, André R; Júnior, Antônio F Durighetto; Gonçalves, Elmar H G; de Oliveira, Jefferson X

    2016-02-01

    Fibrous dysplasia (FD) is a developmental anomaly in which the normal medullary space of the affected bone is replaced by fibro-osseous tissue. This condition is typically encountered in adolescents and young adults. It affects the maxillofacial region and it can often cause severe deformity and asymmetry. Therefore, accurate diagnosis is critical to determine the appropriate treatment of each case. In this sense, computed tomography (CT) is a relevant resource among the imaging techniques for correct diagnosis of this condition. Thus, in this paper, we propose to analyze fibrous dysplasia through its texture pattern. To accomplish this task, we propose to use lacunarity analysis, a multiscale method for describing patterns of spatial dispersion. Results indicated lower lacunarity values for fibrous dysplasia in comparison to normal bone samples, an indication that their texture images are more homogeneous, and a high separability between the classes when using principal component analysis (PCA) and decision trees for statistical analysis.

  12. [Congenital malformations: care or predict?].

    PubMed

    Pellerin, D

    1993-02-01

    Spectacular scientific and technological advances made in the last decade have had such a profound impact on biological and medical science that they have dramatically modified the citizen's behaviour concerning life events, especially congenital malformation. Prenatal diagnosis (PND) leads to do the diagnosis of almost all fetal internal and external malformations. The matter is, not only to care, but, first to know. The positive efficiency of PND is sometimes preparing the best cares and, of course, to recognize many severe anomalies postnatally diagnosed before PND time, and carrying wellknown 50% rate mortality by neo-natal surgery. Congenital diaphragmatic hernia is pointed out as a good example of it, and of hopes and disappointing in utero foetal surgery. New protocol of assessment of fetal renal function is an appreciated method to do prognosis of some fetal uropathies before late in utero drainage, for a short time waiting for necessary maturation of lungs allowing premature delivery. The possibility to do PND of small and benign malformation leads to ask for the question of utility of to know. In spite of the respect of quality of life, can we really allow this type of human selection to be made? The next knowledges of the human genoma map bring us into the predictive medicine. Using "compulsory" PND is a real risk to practice dangerously, a soft eugenism. PND must be, and remain an outstanding advance to provide better treatment.

  13. Glenoid Dysplasia: Pathophysiology, Diagnosis, and Management.

    PubMed

    Eichinger, Josef K; Galvin, Joseph W; Grassbaugh, Jason A; Parada, Stephen A; Li, Xinning

    2016-06-01

    ➤Subtle forms of glenoid dysplasia may be more common than previously thought and likely predispose some patients to symptomatic posterior shoulder instability. Severe glenoid dysplasia is a rare condition with characteristic radiographic findings involving the posteroinferior aspect of the glenoid that often remains asymptomatic.➤Instability symptoms related to glenoid dysplasia may develop over time with increased activities or trauma. Physical therapy focusing on rotator cuff strengthening and proprioceptive control should be the initial management.➤Magnetic resonance imaging and computed tomographic arthrograms are useful for detecting subtle glenoid dysplasia by revealing the presence of an abnormally thickened or hypertrophic posterior part of the labrum, increased capsular volume, glenoid retroversion, and posteroinferior glenoid deficiency.➤Open and arthroscopic labral repair and capsulorrhaphy procedures have been described for symptomatic posterior shoulder instability. Glenoid retroversion of >10° may be a risk factor for failure following soft-tissue-only procedures for symptomatic glenoid dysplasia.➤Osseous procedures are categorized as either glenoid reorientation (osteotomy) or glenoid augmentation (bone graft), and no predictable results have been demonstrated for any surgical strategy. Glenoid osteotomies have been described for increased retroversion, with successful results, although others have noted substantial complications and poor outcomes.➤In severe glenoid dysplasia, the combination of bone deficiency and retroversion makes glenoid osteotomy extremely challenging. Bone grafts placed in a lateralized position to create a blocking effect may increase the risk of the development of arthritis, while newer techniques that place the graft in a congruent position may decrease this risk.

  14. [Renal artery calcified aneurysm in a female patient with solitary kidney, rare pathology].

    PubMed

    Rodríguez Corchero, J; Martín Calero, J; Martínez Rodríguez, J; Huesa Martínez, I; García Matilla, F

    2004-10-01

    Renal artery aneurysm are uncommon. The true prevalence of renal aneurysms in the general population is unknown (less than 0.4%). Because of more widespread use of Angiography and CT as well as improved imaging techniques, they are diagnosed more frecuently. Fibromuscular dysplasia and arteriosclerotic occlusion of the renal artery are believed to be the most frecuent causes. In general, there are no pathognomonic signs and symptoms of renal aneurysm. Nonspecific complaints include flank pain, hematuria, hypertension and hypotension (suspect rupture of aneurysm). We report a case of a woman with a renal artery calcified aneurysm in a solitary kidney.

  15. Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

    PubMed Central

    Gray, Mary J.; Kannu, Peter; Sharma, Swarkar; Neyt, Christine; Zhang, Dongping; Paria, Nandina; Daniel, Philip B.; Whetstone, Heather; Sprenger, Hans-Georg; Hammerschmidt, Philipp; Weng, Angela; Dupuis, Lucie; Jobling, Rebekah; Mendoza-Londono, Roberto; Dray, Michael; Su, Peiqiang; Wilson, Megan J.; Kapur, Raj P.; McCarthy, Edward F.; Alman, Benjamin A.; Howard, Andrew; Somers, Gino R.; Marshall, Christian R.; Manners, Simon; Flanagan, Adrienne M.; Rathjen, Karl E.; Karol, Lori A.; Crawford, Haemish; Markie, David M.; Rios, Jonathan J.; Wise, Carol A.; Robertson, Stephen P.

    2015-01-01

    The periosteum contributes to bone repair and maintenance of cortical bone mass. In contrast to the understanding of bone development within the epiphyseal growth plate, factors that regulate periosteal osteogenesis have not been studied as intensively. Osteofibrous dysplasia (OFD) is a congenital disorder of osteogenesis and is typically sporadic and characterized by radiolucent lesions affecting the cortical bone immediately under the periosteum of the tibia and fibula. We identified germline mutations in MET, encoding a receptor tyrosine kinase, that segregate with an autosomal-dominant form of OFD in three families and a mutation in a fourth affected subject from a simplex family and with bilateral disease. Mutations identified in all families with dominant inheritance and in the one simplex subject with bilateral disease abolished the splice inclusion of exon 14 in MET transcripts, which resulted in a MET receptor (METΔ14) lacking a cytoplasmic juxtamembrane domain. Splice exclusion of this domain occurs during normal embryonic development, and forced induction of this exon-exclusion event retarded osteoblastic differentiation in vitro and inhibited bone-matrix mineralization. In an additional subject with unilateral OFD, we identified a somatic MET mutation, also affecting exon 14, that substituted a tyrosine residue critical for MET receptor turnover and, as in the case of the METΔ14 mutations, had a stabilizing effect on the mature protein. Taken together, these data show that aberrant MET regulation via the juxtamembrane domain subverts core MET receptor functions that regulate osteogenesis within cortical diaphyseal bone. PMID:26637977

  16. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    PubMed Central

    Lu, Hui; Zeng, Binghui; Yu, Dongsheng; Jing, Xiangyi; Hu, Bin; Wang, Yiming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes. PMID:26389062

  17. Mesodermal Pten inactivation leads to alveolar capillary dysplasia- like phenotype.

    PubMed

    Tiozzo, Caterina; Carraro, Gianni; Al Alam, Denise; Baptista, Sheryl; Danopoulos, Soula; Li, Aimin; Lavarreda-Pearce, Maria; Li, Changgong; De Langhe, Stijn; Chan, Belinda; Borok, Zea; Bellusci, Saverio; Minoo, Parviz

    2012-11-01

    Alveolar capillary dysplasia (ACD) is a congenital, lethal disorder of the pulmonary vasculature. Phosphatase and tensin homologue deleted from chromosome 10 (Pten) encodes a lipid phosphatase controlling key cellular functions, including stem/progenitor cell proliferation and differentiation; however, the role of PTEN in mesodermal lung cell lineage formation remains unexamined. To determine the role of mesodermal PTEN in the ontogeny of various mesenchymal cell lineages during lung development, we specifically deleted Pten in early embryonic lung mesenchyme in mice. Pups lacking Pten died at birth, with evidence of failure in blood oxygenation. Analysis at the cellular level showed defects in angioblast differentiation to endothelial cells and an accompanying accumulation of the angioblast cell population that was associated with disorganized capillary beds. We also found decreased expression of Forkhead box protein F1 (Foxf1), a gene associated with the ACD human phenotype. Analysis of human samples for ACD revealed a significant decrease in PTEN and increased activated protein kinase B (AKT). These studies demonstrate that mesodermal PTEN has a key role in controlling the amplification of angioblasts as well as their differentiation into endothelial cells, thereby directing the establishment of a functional gas exchange interface. Additionally, these mice could serve as a murine model of ACD.

  18. Orbital reconstruction for pulsatile exophthalmos secondary to sphenoid wing dysplasia.

    PubMed

    Dale, Elizabeth L; Strait, Timothy A; Sargent, Larry A

    2014-01-01

    Sphenoid wing dysplasia or absence of the greater sphenoid wing is a rare condition that is considered pathopneumonic for neurofibromatosis type 1 (NF1). It occurs in 4% to 11% of NF1 patients, and its precise cause is unclear. Some cases appear to be congenital, while others have demonstrated it to be a progressive degeneration of the orbital wall. In about half of cases, associated adjacent neurofibromas are described. Consistently, however, the clinical sequelae is herniation of the temporal lobe into the orbit, causing progressive proptosis and pulsatile exophthalmos. Reconstruction of the orbit has traditionally been with bone grafts, but due to problems with bone resorption and recurrence, titanium plates in conjunction with bone grafts have been reported. We present a case of a 6-year-old male patient who was first diagnosed with NF1 and associated absence of the greater sphenoid wing at the age of 2. Four years later, he was referred for reconstruction after the development of pulsatile exophthalmos. Surgical management included dissection of the dura of the temporal lobe off of the periorbita and skull base reconstruction with a combination of radial-shaped titanium mesh and split calvarial bone grafts. Postoperatively, there was near immediate resolution of the pulsatile exophthalmos, and follow-up at 1 year showed no recurrence.

  19. [Tricuspid valve dysplasia in fifteen dogs].

    PubMed

    Hoffmann, G; Amberger, C N; Seiler, G; Lombard, C W

    2000-05-01

    Clinical findings in fifteen dogs with tricuspid valve dysplasia are described. Thirteen dogs had loud systolic heart murmurs. Eleven of them hat a palpable precordial thrill over the same location. In 14 dogs, right heart enlargement was suspected on thoracic radiographs and electrocardiography. Right atrial dilation was seen echocardiographically in all dogs. Fourteen dogs had additional right ventricular dilatation, some with hypertrophy as well. Doppler echocardiography revealed tricuspid valve regurgitation. Seven dogs remained free of clinical symptoms to date. If symptoms of decompensation develop with tricuspid dysplasia, diuretics, ACE inhibitors and eventually positive inotrope drugs are indicated. Antiarrhythmic drugs may become necessary in cases of supraventricular tachyarrhythmias.

  20. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

    With increasing incrimination of viruses, plants, and drugs as causes of ovine congenital defects, concerted efforts are required to identify environmental teratogens. Expanding knowledge of congenital defects requires studying as many defective lambs as possible; recording and documenting; detailed diagnostic examinations; genetic analyses and chromosomal examinations, whenever possible; and field investigations. Adopting standardized classification, terminology, and diagnostic procedures should improve descriptions, diagnoses, and interdisciplinary exchange of information. That, in turn, should improve our knowledge of and diagnosis of congenital defects of sheep in the future. Finally, veterinary clinicians and diagnosticians are encouraged to take an interest in congenital defects and teratology.

  1. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Facebook Twitter Home Health Conditions congenital hypothyroidism congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  2. Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.

    PubMed

    Isidor, Bertrand; Hamel, Antoine; Plasschaert, Frank; Claus, Lieve; Mercier, Jacques-Marie; Mortier, Geert R; Leroy, Jules G; Verloes, Alain; David, Albert

    2009-10-01

    Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal-dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, CHD, and ureteral anomalies. Since the original reports in 1995, two other patients have been described with this syndrome, one of them the patient reported in 1998 by Day-Salvatore. In this article, we report on the follow-up of some of the original cases and review the literature. We confirm that the Verloes-David-Pfeiffer syndrome (VDPS) is a progressive skeletal disorder that despite repeated corrective surgical intervention leads to severe limb deformities. No mutations were detected in the FLNB gene. To date, the cause and the pathogenesis of VDPS remain unknown. The latter is characterized in this study as a syndromic type of skeletal dysplasia because besides congenital malformations and multiple acromelic synostoses arising prenatally, VDPS manifests in postnatal life as a severe osteochondrodysplasia.

  3. Trochanteric osteotomy in total hip replacement for congenital hip disease.

    PubMed

    Hartofilakidis, G; Babis, G C; Georgiades, G; Kourlaba, G

    2011-05-01

    We studied the effect of trochanteric osteotomy in 192 total hip replacements in 140 patients with congenital hip disease. There was bony union in 158 hips (82%), fibrous union in 29 (15%) and nonunion in five (3%). The rate of union had a statistically significant relationship with the position of reattachment of the trochanter, which depended greatly on the pre-operative diagnosis. The pre-operative Trendelenburg gait substantially improved in all three disease types (dysplasia, low and high dislocation) and all four categories of reattachment position. A persistent Trendelenburg gait post-operatively was noticed mostly in patients with defective union (fibrous or nonunion). Acetabular and femoral loosening had a statistically significant relationship with defective union and the position of reattachment of the trochanter. These results suggest that the complications of trochanteric osteotomy in total hip replacement for patients with congenital hip disease are less important than the benefits of this surgical approach.

  4. Intensive care of the adult patient with congenital heart disease.

    PubMed

    Allan, Catherine K

    2011-01-01

    Prevalence of congenital heart disease in the adult population has increased out of proportion to that of the pediatric population as survival has improved, and adult congenital heart disease patients make up a growing percentage of pediatric and adult cardiac intensive care unit admissions. These patients often develop complex multiorgan system disease as a result of long-standing altered cardiac physiology, and many require reoperation during adulthood. Practitioners who care for these patients in the cardiac intensive care unit must have a strong working knowledge of the pathophysiology of complex congenital heart disease, and a full team of specialists must be available to assist in the care of these patients. This chapter will review some of the common multiorgan system effects of long-standing congenital heart disease (eg, renal and hepatic dysfunction, coagulation abnormalities, arrhythmias) as well as some of the unique cardiopulmonary physiology of this patient population.

  5. Syndrome of symptomatic adult acetabular dysplasia (SAAD syndrome)

    PubMed Central

    Birrell, F; Silman, A; Croft, P; Cooper, C; Hosie, G; Macfarlane, G

    2003-01-01

    Design: Cross sectional analysis of a prospective cohort. Setting: 35 general practices across the UK. Subjects: 195 patients (63 male, 132 female) aged 40 years and over presenting with a new episode of hip pain Results: The prevalence of acetabular dysplasia in this study of new presenters with hip pain was high (32%). There was no significant relationship between acetabular dysplasia and radiographic OA overall. Conclusions: The high prevalence of acetabular dysplasia across all grades of OA severity suggests that dysplasia itself may be an important cause of hip pain ("symptomatic adult acetabular dysplasia"). PMID:12634238

  6. ["Adult form" of congenital liver fibrosis].

    PubMed

    Schacherer, D; Rümmele, P; Schölmerich, J

    2004-07-02

    During a routine check-up, a 37-year-old woman was found to have elevated levels of serum gamma-glutamyl transferase (gamma GTP) and IgA- and IgM-antibodies. One of the patient's brothers had died at the age of six from acute liver failure. We found a palpably enlarged liver with normal consistency and no particular helpful laboratory results. The abdominal ultrasound and computed tomography (CT) showed segmental and saccular dilatations of the biliary tract, hepatofugal flow in the portal vein, multiple collateral vessels as well as a mild splenomegaly. Histopathology revealed fibrotic liver parenchyma, a dilatated and branched biliary tract lined by cubical epithelium. Gastroscopy showed lowgrade esophageal varices. Seventeen months after the initial presentation there were no significant changes of the laboratory tests or the ultrasound. The defective remodelling of the ductal plate ("ductal plate malformation") is associated with dysplasia of the biliary tract. Depending on the localisation of the lesions within the biliary tract and whether it is a more cystic or more fibrotic component, there are different malformations caused by ductal plate malformation. We diagnosed congenital hepatic fibrosis, because of the atypical age of presentation, it could be the "adult form" of congenital liver fibrosis.

  7. Denosumab treatment for fibrous dysplasia.

    PubMed

    Boyce, Alison M; Chong, William H; Yao, Jack; Gafni, Rachel I; Kelly, Marilyn H; Chamberlain, Christine E; Bassim, Carol; Cherman, Natasha; Ellsworth, Michelle; Kasa-Vubu, Josephine Z; Farley, Frances A; Molinolo, Alfredo A; Bhattacharyya, Nisan; Collins, Michael T

    2012-07-01

    Fibrous dysplasia (FD) is a skeletal disease caused by somatic activating mutations of the cyclic adenosine monophosphate (cAMP)-regulating protein, α-subunit of the Gs stimulatory protein (G(s) α). These mutations lead to replacement of normal bone by proliferative osteogenic precursors, resulting in deformity, fracture, and pain. Medical treatment has been ineffective in altering the disease course. Receptor activator of NF-κB ligand (RANKL) is a cell-surface protein involved in many cellular processes, including osteoclastogenesis, and is reported to be overexpressed in FD-like bone cells. Denosumab is a humanized monoclonal antibody to RANKL approved for treatment of osteoporosis and prevention of skeletal-related events from bone metastases. We present the case of a 9-year-old boy with severe FD who was treated with denosumab for a rapidly expanding femoral lesion. Immunohistochemical staining on a pretreatment bone biopsy specimen revealed marked RANKL expression. He was started on monthly denosumab, with an initial starting dose of 1 mg/kg and planned 0.25 mg/kg dose escalations every 3 months. Over 7 months of treatment he showed marked reduction in pain, bone turnover markers (BTMs), and tumor growth rate. Denosumab did not appear to impair healing of a femoral fracture that occurred while on treatment. With initiation of treatment he developed hypophosphatemia and secondary hyperparathyroidism, necessitating supplementation with phosphorus, calcium, and calcitriol. BTMs showed rapid and sustained suppression. With discontinuation there was rapid and dramatic rebound of BTMs with cross-linked C-telopeptide (reflecting osteoclast activity) exceeding pretreatment levels, accompanied by severe hypercalcemia. In this child, denosumab lead to dramatic reduction of FD expansion and FD-related bone pain. Denosumab was associated with clinically significant disturbances of mineral metabolism both while on treatment and after discontinuation. Denosumab treatment

  8. Distal Renal Tubular Acidosis and Calcium Nephrolithiasis

    NASA Astrophysics Data System (ADS)

    Moe, Orson W.; Fuster, Daniel G.; Xie, Xiao-Song

    2008-09-01

    Calcium stones are commonly encountered in patients with congenital distal renal tubular acidosis, a disease of renal acidification caused by mutations in either the vacuolar H+-ATPase (B1 or a4 subunit), anion exchanger-1, or carbonic anhydrase II. Based on the existing database, we present two hypotheses. First, heterozygotes with mutations in B1 subunit of H+-ATPase are not normal but may harbor biochemical abnormalities such as renal acidification defects, hypercalciuria, and hypocitraturia which can predispose them to kidney stone formation. Second, we propose at least two mechanisms by which mutant B1 subunit can impair H+-ATPase: defective pump assembly and defective pump activity.

  9. Recurrent Monostotic Fibrous Dysplasia in the Mandible

    PubMed Central

    de Oliveira, Reinaldo José; Takehana, Denise; Deana, Naira Figueiredo

    2016-01-01

    Fibrous dysplasia (FD) is a condition in which normal bone marrow is replaced by an abnormal proliferation of new fibrous connective tissue. Female patient, white, 20 years old, attended the dental clinic reporting a slow increase in volume in the right mandible region over the last 5 years. She was examined by imaging: the panoramic X-ray revealed a lesion with the appearance of ground glass while the cone-beam computed tomography showed an extensive lesion in the region of the right hemimandible. The histopathological examination was compatible with fibrous dysplasia. Bone gammagraphy was indicated, plus an endocrinological study to eliminate polyostotic forms, which produced a negative result. Monostotic fibrous dysplasia in the right hemimandible was diagnosed. Conservative surgery was carried out and after 1 year recurrence of the tumour was observed. We may conclude that conservative surgery might not be the best choice for treatment for monostotic fibrous dysplasia in the mandible and that other options must be considered, such as radical surgery or the use of bisphosphonates. In our study, we may also conclude that it is very important to explain to the patient the possibility of recurrence of the lesion and the need for monitoring with periodic imaging studies. PMID:27340572

  10. Scintigraphic findings in progressive diaphyseal dysplasia

    SciTech Connect

    Lundy, M.M.; Billingsley, M.L.; Redwine, M.D.; Turnbull, G.L.; Brown, T.J.

    1982-04-01

    A 14-yr-old white male with a severe form of progressive diaphyseal dysplasia (Engelmann-Camurati disease) was referred to our institution for evaluation of splenomegaly, which is not usually associated with the disease. Our studies included Tc-99m bone, bone-marrow, and liver-spleen scans. These scintigraphic findings, along with the probable cause for splenomegaly, are discussed.

  11. Scintigraphic findings in progressive diaphyseal dysplasia

    SciTech Connect

    Lundy, M.M.; Billingsley, J.L.; Redwine, M.D.; Turnbull, G.L.; Brown, T.J.

    1982-04-01

    A 14-yr-old white male with a severe form of progressive diaphyseal dysplasia (Engelmann-Camurati disease) was referred to our institution for evaluation of splenomegaly, which is not usually associated with the disease. Our studies included bone-marrow, and liver-spleen scans. These scintigraphic findings, along with the probable cause for splenomegaly, are discussed.

  12. The patellofemoral joint: from dysplasia to dislocation.

    PubMed

    Zaffagnini, Stefano; Grassi, Alberto; Zocco, Gianluca; Rosa, Michele Attilo; Signorelli, Cecilia; Muccioli, Giulio Maria Marcheggiani

    2017-05-01

    Patellofemoral dysplasia is a major predisposing factor for instability of the patellofemoral joint. However, there is no consensus as to whether patellofemoral dysplasia is genetic in origin, caused by imbalanced forces producing maltracking and remodelling of the trochlea during infancy and growth, or due to other unknown and unexplored factors.The biomechanical effects of patellofemoral dysplasia on patellar stability and on surgical procedures have not been fully investigated. Also, different anatomical and demographic risk factors have been suggested, in an attempt to identify the recurrent dislocators. Therefore, a comprehensive evaluation of all the radiographic, MRI and CT parameters can help the clinician to assess patients with primary and recurrent patellar dislocation and guide management.Patellofemoral dysplasia still represents an extremely challenging condition to manage. Its controversial aetiology and its complex biomechanical behaviour continue to pose more questions than answers to the research community, which reflects the lack of universally accepted guidelines for the correct treatment. However, due to the complexity of this condition, an extremely personalised approach should be reserved for each patient, in considering and addressing the anatomical abnormalities responsible for the symptoms. Cite this article: EFORT Open Rev 2017;2. DOI: 10.1302/2058-5241.2.160081. Originally published online at www.efortopenreviews.org.

  13. ["Standing waves": differential diagnosis of fibromuscular dysplasia].

    PubMed

    Joseph, J M; Doenz, F; Mosimann, F

    1994-12-01

    We report two recent observations of an angiographic artefact called "standing waves". It results in the same characteristic beaded pictures than fibromuscular dysplasia. It is induced by the angiography catheter and is related to the speed of injection. The possible occurrence of this artefact should be borne in mind whenever the films show dysplastic lesions in more than one artery.

  14. IQ Measurement in Children with Skeletal Dysplasia.

    ERIC Educational Resources Information Center

    Rogers, John G.; And Others

    1979-01-01

    IQ studies on 68 children (5 months-15 years) with skeletal dysplasia (dwarfism) were reviewed to provide counseling to parents of newborn affected children. Results of the study show that this population performs intellectually in the same range as other children. Journal availability: see EC 115 198. (PHR)

  15. IQ Measurement in Children with Skeletal Dysplasia.

    ERIC Educational Resources Information Center

    Rogers, John G.; And Others

    1979-01-01

    IQ studies on 68 children (5 months-15 years) with skeletal dysplasia (dwarfism) were reviewed to provide counseling to parents of newborn affected children. Results of the study show that this population performs intellectually in the same range as other children. Journal availability: see EC 115 198. (PHR)

  16. [Gorlin-Cohen syndrome (frontometaphyseal dysplasia)].

    PubMed

    Kleinsorge, H; Böttger, E

    1977-11-01

    The classical case of a Gorlin-Cohen-Syndrom (= fronto-metaphyseal dysplasis=FMD) is presented. The disease has been mentioned in literature for the first time in 1969 and has been described four times up to now. The characteristic features of this syndrome are very prominent supraorbital ridges with generalized bone dysplasia and joint deformities.

  17. MR Findings of the Osteofibrous Dysplasia

    PubMed Central

    Jung, Joon-Yong; Hong, Sung Hwan; Kang, Heung Sik; Chung, Hye Won; Ryu, Kyung-Nam; Kim, Jee-Young; Im, Soo-A; Park, Jeong-Mi; Sung, Mi-Sook; Lee, Yeon-Soo; Hong, Suk-Joo; Jung, Chan-Kwon; Chung, Yang-Guk

    2014-01-01

    Objective The aim of this study was to describe MR findings of osteofibrous dysplasia. Materials and Methods MR images of 24 pathologically proven osteofibrous dysplasia cases were retrospectively analyzed for a signal intensity of the lesion, presence of intralesional fat signal, internal hypointense band, multilocular appearance, cortical expansion, intramedullary extension, cystic area, cortical breakage and extraosseous extension, abnormal signal from the adjacent bone marrow and soft tissue and patterns of contrast enhancement. Results All cases of osteofibrous dysplasia exhibited intermediate signal intensity on T1-weighted images. On T2-weighted images, 20 and 4 cases exhibited heterogeneously intermediate and high signal intensity, respectively. Intralesional fat was identified in 12% of the cases. Internal low-signal bands and multilocular appearance were observed in 91%. Cortical expansion was present in 58%. Intramedullary extension was present in all cases, and an entire intramedullary replacement was observed in 33%. Cortical breakage (n = 3) and extraosseous mass formation (n = 1) were observed in cases with pathologic fractures only. A cystic area was observed in one case. Among 21 cases without a pathologic fracture, abnormal signal intensity in the surrounding bone marrow and adjacent soft tissue was observed in 43% and 48%, respectively. All cases exhibited diffuse contrast enhancement. Conclusion Osteofibrous dysplasia exhibited diverse imaging features ranging from lesions confined to the cortex to more aggressive lesions with complete intramedullary involvement or perilesional marrow edema. PMID:24497800

  18. Prophylactic intramedullary nailing in monostotic fibrous dysplasia.

    PubMed

    Demiralp, Bahtiyar; Ozturk, Cagatay; Ozturan, Kutay; Sanisoglu, Yavuz S; Cicek, Ilker E; Erler, Kaan

    2008-06-01

    Fibrous dysplasia of bone is an enigma with no known cure. Treatment currently consists of curettage and bone-grafting in an attempt to eradicate the lesion and to prevent progressive deformity. This study presents the results of prophylactic intramedullary nailing in 10 patients with monostotic fibrous dysplasia, pain increasing with movement, and scintigraphically established activity. Ten patients with monostotic fibrous dysplasia in their upper or lower extremities treated between 2001 and 2003 were included in the study. Seven patients were male and 3 were female; their mean age was 26.9 years. The mean duration of follow-up was 33.5 months. Closed intramedullary nail without reaming was used in all cases. Bone grafting was not performed. Patients were allowed full weight bearing on the affected extremities on the second postoperative day. Mean VAS for functional pain was 5.33 +/- 0.65 preoperatively and 2.26 +/- 0.57 at final follow-up (p < 0.05). Radiographs showed no changes in lesion size, and the intramedullary fixation appeared to be stable. Prophylactic intramedullary nailing appeared to be beneficial in monostotic fibrous dysplasia with scintigraphically proven activity and functional pain. It also avoids problems that may occur following pathological fracture.

  19. [Spontaneous dissection of the renal artery and kidney infarction: report of two cases].

    PubMed

    Borja, Francisco; González, Renato; Rodríguez, Nicolás; Ursu, Marcela; Varela, Cristian; Vukusich, Antonio

    2008-09-01

    We report two previously healthy males aged 33 and 37 years, presenting with severe pain in the right and left part of the abdomen, respectively. An abdominal CT scan showed in both a kidney infarction. An angio-CAT scan showed changes compatible with a fibromuscular dysplasia in the renal arterial wall. An angiography showed an intimal tear or complex dissection flap in both cases. Both had a satisfactory evolution with conservative treatment. The relationship between fibromuscular dysplasia and spontaneous dissection of the renal artery is discussed.

  20. Neuronal defects an etiological factor in congenital pelviureteric junction obstruction?

    PubMed

    How, Guo Yuan; Chang, Kenneth Tou En; Jacobsen, Anette Sundfor; Yap, Te-Lu; Ong, Caroline Choo Phaik; Low, Yee; Allen, John Carson; Kuick, Chik Hong; Lim, Malcolm Zhun Leong; Laksmi, Narasimhan Kannan

    2017-09-01

    Congenital pelviureteric junction obstruction (PUJO) is one of the most frequent causes of neonatal hydronephrosis. Obstruction at the PUJ has potential severe adverse outcomes, such as renal damage. While pyeloplasty has been established as the definitive treatment, the exact pathophysiology of congenital PUJO remains unknown. Recent research has proposed neuronal innervation defects as an etiological factor in congenital PUJO. We aim to study the expression of various neuronal markers in PUJO specimens compared with controls, and evaluate whether severity of renal disease or dysfunction pre-operatively is related to expression of neuronal markers in resected PUJO specimens. All consecutive patients who underwent dismembered pyeloplasty at KK Women's and Children's Hospital, Singapore, for intrinsic PUJO from 2008 to 2012 were included. Patients with other co-occurring renal pathologies were excluded. Controls were obtained from nephrectomy patients with Wilm's tumor or other benign renal conditions during the same period. Specimens were stained immunohistochemically with neuronal markers protein gene product 9.5 (PGP9.5), synaptophysin, and S-100, and with CD-117, a marker for interstitial cells of Cajal (Table). Levels of expression of the markers were assessed semiquantitatively (decreased, increased or no change) in comparison with controls by two independent observers. Pre-operative data of patients' renal anatomical (ultrasonography measurements of renal pelvis size) and functional parameters (differential renal function measured using MAG-3 renal scans) were obtained. Thirty-eight PUJO specimens (38 renal units) and 20 controls were studied. Mean patient age at pyeloplasty was 25.3 months (2.9-167.6 months). Median pre-operative pelvic size was 25.0 mm (17.0-50.0 mm). Both PUJO specimens and controls showed great heterogeneity in distribution of innervation. All four immunohistochemical markers were not predictive of significant pre-operative renal pelvis

  1. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  2. Congenital patellar syndrome.

    PubMed

    Jerome, J Terrence Jose; Varghese, M; Sankaran, B

    2009-01-01

    Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.

  3. Multifocal Congenital Hemangiopericytoma.

    PubMed

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  4. Right Renal Vein Aplasia Associated With Diverted Renal Venous Drainage Through Lower Pole

    SciTech Connect

    Bozlar, Ugur; Ugurel, Mehmet Sahin; Bedir, Selahattin; Ors, Fatih; Coskun, Unsal; Aydur, Emin

    2008-07-15

    We report a unique anomalous renal venous drainage on a 25-year-old man who had congenital absence of the right renal vein and an aberrant venous drainage through the lower pole of the kidney into the inferior vena cava. To our knowledge, this anomaly has not been previously reported in the peer-reviewed literature. State-of-the-art imaging findings are presented.

  5. Bronchopulmonary dysplasia: incidence and risk factors.

    PubMed

    Brener Dik, Pablo H; Niño Gualdron, Yeimy M; Galletti, María F; Cribioli, Carolina M; Mariani, Gonzalo L

    2017-10-01

    Bronchopulmonary dysplasia is the most common chronic pulmonary sequela among very low birth weight infants. The objective of this study was to estimate its incidence in our Neonatal Unit over the past 5 years and analyze associated risk factors. An observational and analytical study was conducted in a retrospective cohort, using data obtained from a prospective database of infants born at Hospital Italiano de Buenos Aires with a birth weight of less than 1500 grams between January 2010 and December 2014. The incidence of bronchopulmonary dysplasia and its association with several secondary outcome measures were studied. Two hundred and forty-five patients were included. The incidence of moderate/severe bronchopulmonary dysplasia was 22%, and it was associated with a younger gestational age and lower birth weight. A significant association was observed with surfactant use, mechanical ventilation requirement, and length of mechanical ventilation. Patients with moderate/severe bronchopulmonary dysplasia had a higher incidence of patent ductus arteriosus and late-onset sepsis. A lower birth weight (adjusted odds ratio |-#91;aOR|-#93;: 0.99, 95% confidence interval |-#91;CI|-#93;: 0.991-0.997, p< 0.001) and the length of mechanical ventilation (aOR: 1.08, 95% CI: 1.01-1.15, p < 0.01) remained associated following adjustment for other outcome measures. In addition, an association was observed among patients with intrauterine growth restriction born at less than 32 weeks of gestational age (OR: 4.71, 95% CI: 1.68-13.2). The incidence ofbronchopulmonary dysplasia in our unit was associated with a lower birth weight and the length of mechanical ventilation. Among infants born at less than 32 weeks of gestation, intrauterine growth restriction accounted for an additional risk.

  6. Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts.

    PubMed

    Oostra, Roelof-Jan; Boer, Lucas; van der Merwe, Alie E

    2016-10-01

    Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Skeletal dysplasias (osteochondrodysplasias) interfere with the histological formation, growth and maturation of skeletal tissues leading to diminished postural length, but the building plan of the body is unaffected. Well- known skeletal dysplasias represented in the archeological record include osteogenesis imperfecta and achondroplasia. Dysostoses, in contrast, interfere with the building plan of the body, leading to e.g. missing or extraskeletal elements, but the histology of the skeletal tissues is unaffected. Dysostoses can concern the extremities (e.g., oligodactyly and polydactyly), the vertebral column (e.g., homeotic and meristic anomalies), or the craniofacial region. Conditions pertaining to the cranial sutures, i.e., craniosynostoses, can be either skeletal dysplasias or dysostoses. Congenital conditions that are not harmful to the individual are known as anatomical variations, several of which have a high and population-specific prevalence that could potentially make them useful for determining ethnic origins. In individual cases, specific congenital conditions could be determinative in establishing identity, provided that ante-mortem registration of those conditions was ensured. Clin. Anat. 29:878-891, 2016. © 2016 The Authors Clinical Anatomy published by Wiley Periodicals, Inc. on behalf of American Association of Clinical Anatomists. © 2016 The Authors Clinical Anatomy published by Wiley Periodicals, Inc. on behalf of American Association of Clinical Anatomists.

  7. Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord.

    PubMed

    Uematsu, Mitsugu; Haginoya, Kazuhiro; Kikuchi, Atsuo; Hino-Fukuyo, Naomi; Ishii, Keiko; Shiihara, Takashi; Kato, Mitsuhiro; Kamei, Atsushi; Kure, Shigeo

    2016-10-01

    Congenital cytomegalovirus (CMV) infection causes various neurological sequelae. However, most infected infants are asymptomatic at birth, and retrospective diagnosis is difficult beyond the neonatal period. This study aimed to investigate the aspects of neurological sequelae associated with asymptomatic congenital CMV infection. We retrospectively analyzed 182 patients who were suspected of having asymptomatic congenital CMV infection with neurological symptoms in Japan. Congenital CMV infection was diagnosed by quantitative polymerase chain reaction amplification of CMV from dried umbilical cord DNA. Fifty-nine patients (32.4%) who tested positive for CMV were confirmed as having congenital CMV infection. Among 54 congenital CMV patients, major neurological symptoms included intellectual disability (n=51, 94.4%), hearing impairment (n=36, 66.7%) and cerebral palsy (n=21, 38.9%), while microcephaly (n=16, 29.6%) and epilepsy (n=14, 25.9%) were less common. In a brain magnetic resonance imaging (MRI) study, cortical dysplasia was observed in 27 CMV-positive patients (50.0%), and all patients (100%) had cerebral white matter (WM) abnormality. Intracranial calcification was detected by CT in 16 (48.5%) of 33 CMV-positive patients. Cerebral palsy, cortical dysplasia and a WM abnormality with a diffuse pattern were associated with marked intellectual disability. Brain MRI investigations are important for making a diagnosis and formulating an intellectual prognosis. Analysis of umbilical cord tissue represents a unique and useful way to retrospectively diagnose congenital CMV infection. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  8. Multimodality imaging of renal inflammatory lesions

    PubMed Central

    Das, Chandan J; Ahmad, Zohra; Sharma, Sanjay; Gupta, Arun K

    2014-01-01

    Spectrum of acute renal infections includes acute pyelonephritis, renal and perirenal abscesses, pyonephrosis, emphysematous pyelonephritis and emphysematous cystitis. The chronic renal infections that we routinely encounter encompass chronic pyelonephritis, xanthogranulomatous pyelonephritis, and eosinophilic cystitis. Patients with diabetes, malignancy and leukaemia are frequently immunocompromised and more prone to fungal infections viz. angioinvasive aspergillus, candida and mucor. Tuberculosis and parasitic infestation of the kidney is common in tropical countries. Imaging is not routinely indicated in uncomplicated renal infections as clinical findings and laboratory data are generally sufficient for making a diagnosis. However, imaging plays a crucial role under specific situations like immunocompromised patients, treatment non-responders, equivocal clinical diagnosis, congenital anomaly evaluation, transplant imaging and for evaluating extent of disease. We aim to review in this article the varied imaging spectrum of renal inflammatory lesions. PMID:25431641

  9. Multimodality imaging of renal inflammatory lesions.

    PubMed

    Das, Chandan J; Ahmad, Zohra; Sharma, Sanjay; Gupta, Arun K

    2014-11-28

    Spectrum of acute renal infections includes acute pyelonephritis, renal and perirenal abscesses, pyonephrosis, emphysematous pyelonephritis and emphysematous cystitis. The chronic renal infections that we routinely encounter encompass chronic pyelonephritis, xanthogranulomatous pyelonephritis, and eosinophilic cystitis. Patients with diabetes, malignancy and leukaemia are frequently immunocompromised and more prone to fungal infections viz. angioinvasive aspergillus, candida and mucor. Tuberculosis and parasitic infestation of the kidney is common in tropical countries. Imaging is not routinely indicated in uncomplicated renal infections as clinical findings and laboratory data are generally sufficient for making a diagnosis. However, imaging plays a crucial role under specific situations like immunocompromised patients, treatment non-responders, equivocal clinical diagnosis, congenital anomaly evaluation, transplant imaging and for evaluating extent of disease. We aim to review in this article the varied imaging spectrum of renal inflammatory lesions.

  10. Congenital anomalies associated with hypothyroidism.

    PubMed Central

    Bamforth, J S; Hughes, I; Lazarus, J; John, R

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities. PMID:3729532

  11. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  12. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  13. Giant congenital melanocytic nevus*

    PubMed Central

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion. PMID:24474093

  14. Bone marrow transplantation in Schimke immuno-osseous dysplasia.

    PubMed

    Baradaran-Heravi, Alireza; Lange, Jonas; Asakura, Yumi; Cochat, Pierre; Massella, Laura; Boerkoel, Cornelius F

    2013-10-01

    Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare autosomal recessive multisystem childhood disorder characterized by short stature, renal failure, T-cell immunodeficiency, and hypersensitivity to genotoxic agents. SIOD is associated with biallelic mutations in SMARCAL1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily a-like 1), which encodes a DNA stress response enzyme with annealing helicase activity. Two features of SIOD causing much morbidity and mortality are bone marrow failure and T-cell deficiency with the consequent opportunistic infections. To address the safety and efficacy of bone marrow transplantation (BMT) in SIOD, we reviewed the outcomes of the only five SIOD patients known to us in whom bone marrow or hematopoietic stem cell transplantation has been attempted. We find that only one patient survived the transplantation procedure and that the existing indicators of a good prognosis for bone marrow transplantation were not predictive in this small cohort. Given these observations, we also discuss some considerations for the poor outcomes. Copyright © 2013 Wiley Periodicals, Inc.

  15. Bone-Grafting in Polyostotic Fibrous Dysplasia

    PubMed Central

    Leet, Arabella I.; Boyce, Alison M.; Ibrahim, Khalda A.; Wientroub, Shlomo; Kushner, Harvey; Collins, Michael T.

    2016-01-01

    Background: Polyostotic fibrous dysplasia is a skeletal disease that results from somatic activating mutations in the gene GNAS in skeletal stem cells, leading to proliferation of immature osteogenic cells with replacement of normal marrow and bone with fibro-osseous tissue. Lesions may cause bone deformity or fracture. In the surgical care of polyostotic fibrous dysplasia, the role of grafting and the optimal grafting material are not clear. The purpose of this study was to evaluate the long-term survival of bone-grafting procedures in subjects with polyostotic fibrous dysplasia over time. Methods: The operative reports and radiographs of a cohort of subjects with polyostotic fibrous dysplasia followed in a natural history study were reviewed. Twenty-three subjects (mean age at the time of enrollment, thirteen years [range, two to forty years]) with fifty-two bone-grafting procedures had a mean follow-up time of 19.6 years (range, twenty-nine months to forty-seven years). Kaplan-Meier life table estimates, Cox proportional hazard models, and t tests comparing means were performed to assess various aspects of graft survival. Results: Kaplan-Meier curves showed a 50% estimate of survival of 14.5 years. Cox proportional hazards models showed no advantage comparing allograft with autograft or structural with nonstructural graft materials. The mean age of the patients was significantly greater (p < 0.001) in the subgroup of subjects in whom grafts were maintained over time (20.9 years) compared with the subgroup of patients whose grafts were resorbed over time (9.8 years). Conclusions: Bone-grafting, including both allograft and autograft, is of limited value in ablating the lesions of fibrous dysplasia. The expectations of patients and surgeons should include the high probability of graft resorption over time with return of bone characteristics of fibrous dysplasia, particularly in younger patients. This suggests the maintenance of normal bone mechanics with implant

  16. Change in prevalence of congenital defects in children with Prader-Willi syndrome.

    PubMed

    Torrado, M; Foncuberta, M E; Perez, M F de Castro; Gravina, L P; Araoz, H V; Baialardo, E; Chertkoff, L P

    2013-02-01

    The aim of this study was to assess the prevalence of congenital defects observed in patients with Prader-Willi syndrome (PWS) and to compare this prevalence with that described in the general population. In addition, these findings were correlated with the different etiologic subtypes. A total of 180 children with PWS followed for 13 years were included in this study. Diagnosis was confirmed by the methylation test, and genetic subtypes were established by using fluorescence in situ hybridization or multiplex ligation-dependent probe amplification and microsatellite analyses. The prevalence of congenital defects was compared with national and international registries of congenital defects in the general population (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas, European Surveillance of Congenital Anomalies, and the New York Registry). Twenty-two percent of the patients presented congenital defects with a risk of 5.4 to 18.7 times higher than that of the general population. The most frequent congenital defects were heart defects, renoureteral malformations, vertebral anomalies, hip dysplasia, clubfoot, and agenesis/hypoplasia of the corpus callosum. Each of these congenital defects was significantly more frequent in the children with PWS than in the general population. The congenital heart defects were more frequent in girls than in boys with PWS. No significant differences were found when the defects were correlated with the different etiologic subtypes. An increased prevalence of congenital defects was found in our PWS patients. This finding suggests the need for further studies in PWS children that allow physicians to detect the congenital defects found in this series and, thus, to anticipate complications, with the ultimate aim of enhancing the management of PWS patients.

  17. Activity Level and Severity of Dysplasia Predict Age at Bernese Periacetabular Osteotomy for Symptomatic Hip Dysplasia.

    PubMed

    Matheney, Travis; Zaltz, Ira; Kim, Young-Jo; Schoenecker, Perry; Millis, Michael; Podeszwa, David; Zurakowski, David; Beaulé, Paul; Clohisy, John

    2016-04-20

    The age when patients present for treatment of symptomatic developmental dysplasia of the hip with periacetabular osteotomy (PAO) varies widely. Modifiable factors influencing age at surgery include preexisting activity level and body mass index (BMI). The severity of the hip dysplasia has also been implicated as a factor influencing the age at arthritis onset. The purpose of this study was to determine whether activity level, BMI, and severity of dysplasia are independent predictors of age of presentation for PAO. A retrospective, institutional review board-approved review of prospectively collected data from a multicenter study group identified 708 PAOs performed for developmental dysplasia of the hip. Demographic factors that were considered in the analysis included age at surgery, BMI, history of hip disorder or treatment, and duration of symptoms. The severity of the developmental dysplasia of the hip was assessed by radiographic measurement of the lateral and anterior center-edge angles and acetabular inclination. Activity level was assessed with the University of California, Los Angeles (UCLA) activity score. Spearman correlations and t tests were used for univariable analysis. Multivariable regression analysis using generalized estimating equations was applied to determine independent predictors of age at PAO. Univariable analysis indicated that age at presentation for treatment of PAO correlated with the lateral and anterior center-edge angles (p < 0.001), UCLA score (p < 0.001), and BMI (p = 0.04). Since the lateral and anterior center-edge angles were similarly correlated (Spearman rho = 0.61, p < 0.001), the lateral center-edge angle alone was used to classify the severity of the developmental dysplasia of the hip. Multivariable linear regression confirmed that a high UCLA score and severe hip dysplasia were independent predictors of age at PAO (p < 0.001). A high activity level and severe dysplasia lead to the development of symptoms and presentation

  18. UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

    ClinicalTrials.gov

    2016-08-23

    Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

  19. Dedifferentiated adamantinoma associated with fibrous dysplasia.

    PubMed

    Nouri, H; Jaafoura, H; Bouaziz, M; Ouertatani, M; Abid, L; Meherzi, M H; Ladeb, M F; Mestiri, M

    2011-11-01

    A 21-year-old patient presented with an aggressive lesion of the left tibia associated to lymph nodes and lung metastasis. Histological examination revealed a high grade spindle cell sarcoma involving some areas of cytokeratine positive cells. Ultrastructural examination showed the presence of epithelial features in the sarcomatoid cells. The diagnosis of dedifferentiated spindle-celled adamantinoma was established. A second lesion of the right tibia was diagnosed as fibrous dysplasia. The patient had a leg amputation. He died 2 years later with multiple lung and bone metastases. The diagnosis of dedifferentiated adamantinoma should be considered when a clinician is confronted with a tibial biopsy of a "keratin-positive sarcoma". The association with fibrous dysplasia in this case is discussed.

  20. Atypical parakeratosis: a marker of dysplasia?

    PubMed

    Voytek, T M; Kannan, V; Kline, T S

    1996-11-01

    The Bethesda System categorizes atypical parakeratosis (APK) as "ASCUS or SIL depending on the degree of cellular abnormalities." APK, however, is not well-defined. We retrospectively reviewed 68 cervicovaginal specimens with follow-up material to identify specific criteria and clinical significance of APK. APK cells were small cells, 2-3 times the diameter of neutrophil, with dense, orangeophilic cytoplasm, high nuclear cytoplasmic ratio, dense, often uneven chromatin, and irregular nuclear contour. Of 62 cases with APK, 37 had accompanying dysplastic cells. Of 25 cases with APK alone, follow-up revealed 12 with squamous intraepithelial lesion (5 HSIL and 7 LSIL) and 13 with benign changes. A major diagnostic pitfall of APK was inflammation with degeneration. Abundant APK cells, minimal inflammation and degeneration, and previous history of dysplasia frequently were associated with follow-up SIL. The findings of this study identify APK as an important marker for dysplasia that warrants careful evaluation and follow-up.

  1. Laryngeal Dysplasia, Squamous Cell Carcinoma, and Variants.

    PubMed

    Thompson, Lester D R

    2017-03-01

    Squamous cell carcinoma (SCC) is a malignant epithelial tumor showing evidence of squamous differentiation. It is the most common malignancy of the larynx, with several variants (verrucous, exophytic or papillary, spindle-cell, basaloid, acantholytic, adenosquamous) recognized, with well-established precursor lesions. Dysplasia is now separated into only low-grade and high-grade categories. Each SCC variant has unique cytomorphologic features and histologic differential diagnoses that are important to consider, as management and outcomes are different.

  2. Monostotic fibrous dysplasia with Raynaud's phenomenon

    PubMed Central

    Kumar, K. V. S. Hari; Aravinda, K.; Narayanan, K.

    2015-01-01

    Fibrous dysplasia (FD) is a benign bone disorder characterized by alteration in bone morphology. Monostotic FD is the commonest variant and affects the craniofacial bones. Raynaud's phenomenon is recurrent vasospasm of the fingers and toes due to cold exposure. The disease is usually idiopathic or secondary to connective tissue disorders. Raynaud's phenomenon is not described previously with FD. We recently encountered two interesting patients of craniofacial monostotic FD with Raynaud's phenomenon and report the same in this report. PMID:26283854

  3. [Thanatophoric dysplasia: case-based bioethical analysis].

    PubMed

    Abarca, Edgar; Rodríguez, Alejandra; Casas, Donovan; Espíndola, Esteban

    2014-04-29

    This paper presents a case report of thanatophoric dysplasia diagnosed in the prenatal period using ultrasound standards. The course of the case pregnancy, birth process, and postnatal period is described. This report invites bioethical analysis using its principles, appealing to human dignity, diversity and otherness, particularly in the mother-child dyad and their family. An early diagnosis allows parental support as they face the course of this condition and its potentially fatal outcome.

  4. Fetal MR imaging of Kniest dysplasia.

    PubMed

    Yazici, Zeynep; Kline-Fath, Beth M; Laor, Tal; Tinkle, Bradley T

    2010-03-01

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias.

  5. Fibromuscular Dysplasia and Intravenous Thrombolytic Treatment

    PubMed Central

    PEKÖZ, Mehmet Taylan; BIÇAKCI, Şebnem; ÖZTÜRK, İlker; ASLAN, Kezban; BOZDEMİR, Hacer; KOÇ, Filiz

    2014-01-01

    Fibromuscular dysplasia (FMD), which usually affects middle-aged and older women, is a non-atheromatous and non-inflammatory angiopathy. Definitive diagnosis is made only by angiography showing classic string-of-beads appearance. In this article, we present a patient with acute ischemic stroke due to FMD who was successfully treated with thrombolytic therapy as well as to revise the approach to FMD in the light of the literature.

  6. Monostotic fibrous dysplasia with Raynaud's phenomenon.

    PubMed

    Kumar, K V S Hari; Aravinda, K; Narayanan, K

    2015-01-01

    Fibrous dysplasia (FD) is a benign bone disorder characterized by alteration in bone morphology. Monostotic FD is the commonest variant and affects the craniofacial bones. Raynaud's phenomenon is recurrent vasospasm of the fingers and toes due to cold exposure. The disease is usually idiopathic or secondary to connective tissue disorders. Raynaud's phenomenon is not described previously with FD. We recently encountered two interesting patients of craniofacial monostotic FD with Raynaud's phenomenon and report the same in this report.

  7. Treatment of steroid-resistant post-transplant nephrotic syndrome with cyclophosphamide in a child with congenital nephrotic syndrome.

    PubMed

    Flynn, J T; Schulman, S L; deChadarevian, J P; Dunn, S P; Kaiser, B A; Polinsky, M S; Baluarte, H J

    1992-11-01

    A child with congenital nephrotic syndrome underwent renal transplantation, was treated for acute rejection, and then developed nephrotic syndrome and renal failure. He was felt to have minimal change disease on allograft biopsy, but failed to respond to therapy with corticosteroids. Cyclophosphamide was substituted for cyclosporine and rapidly induced a complete remission of his nephrotic syndrome. We feel that this case not only represents an important example of a useful therapeutic approach to the child with congenital nephrotic syndrome who develops nephrotic syndrome post transplantation, and also raises questions concerning the pathogenesis of congenital nephrotic syndrome.

  8. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  9. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  10. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. It is ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  11. Congenital Heart Information Network

    MedlinePlus

    ... Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  12. Renal Stones

    NASA Technical Reports Server (NTRS)

    2002-01-01

    Renal stones are never convenient, but they are a particular concern for astronauts who have limited access to treatment during flight. Researchers are examining how earthbound preventions for renal stone formation work in flight, ensuring missions are not ended prematurely due to this medical condition. The micrograph shows calcium oxalate crystals in urine. These small crystals can develop to form renal stones. Principal Investigator: Dr. Peggy Whitson, NASA Johnson Space Center, Houston, TX.

  13. Dysplasia can be a pain in the gut.

    PubMed

    McKenna, Barbara J; Appelman, Henry D

    2002-12-01

    In the gastrointestinal tract, the term 'dysplasia' is used to refer to non-invasive neoplastic epithelium. Although we recognise adenomas of the gut as dysplastic, we don't use the term 'dysplasia' in reporting them. The use of the term 'dysplasia' for pre-invasive epithelium gradually came to replace other terms in studies attempting to identify epithelial changes that were cancer precursors in surveillance biopsies of patients with chronic colitides. The two-tier system of classification, dividing dysplasias into low-grade or high-grade lesions is conceptually straightforward; however, difficulties exist in the distinction of regenerative epithelium from low-grade dysplasia, of low-grade from high-grade dysplasia, and in identifying superficially invasive carcinoma in a dysplastic mucosa. The category 'indefinite for dysplasia' is an honest recognition of the difficulties in distinguishing reactive or regenerative epithelium from low-grade dysplasia, since these epithelia share many cytological features. In surveillance biopsies in ulcerative colitis and Barrett's mucosa, for each epithelial category from non-dysplastic through indefinite, low-grade and high-grade dysplasia, there are specific management recommendations that vary from no change in surveillance to increased surveillance to definitive therapy that is often a major resection. The recommendation for referral of high-grade dysplasias to consultants reflects the concern pathologists have about making such clinically significant diagnoses with limited experience. Pathologists should use the accepted terminology, share cases to expand their experience, and seek consultation in selected cases. This paper follows the evolution of the dysplasia concept, details the difficult areas of diagnosis, and discusses the importance of interaction between clinicians and pathologists in dealing with dysplasias.

  14. Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

    PubMed Central

    Amiel, J.; Cormier-Daire, V.; Journeau, P.; Mussat, P.; Munnich, A.; Lyonnet, S.

    1999-01-01

    We report on the association of epiphyseal, vertebral, and ear dysplasia in two sisters with normal stature and psychomotor development born to distantly related, healthy parents. This distinctive association has not been reported previously and is likely to represent a new condition with an autosomal recessive mode of inheritance. For this syndrome, we propose the acronym EVE standing for epiphyseal, vertebral, and ear dysplasia.


Keywords: epiphyseal; verterbal; and ear (EVE) dysplasia; new syndrome PMID:10424819

  15. Steroid contraceptive use and cervical dysplasia: increased risk of progression.

    PubMed

    Stern, E; Forsythe, A B; Youkeles, L; Coffelt, C F

    1977-06-24

    In a prospective study of women with dysplasia of the cervix, there was an increase in severity of dysplasia and of conversion to cancer in situ in users of the contraceptive pill compared with users of other contraceptive methods. There was a delay in this adverse response. Nonreversal of dysplasia within the first 6 months of pill use is predictive of progression after prolonged exposure.

  16. Hip arthroscopy in the setting of hip dysplasia

    PubMed Central

    Yeung, M.; Kowalczuk, M.; Simunovic, N.

    2016-01-01

    Objective Hip arthroscopy in the setting of hip dysplasia is controversial in the orthopaedic community, as the outcome literature has been variable and inconclusive. We hypothesise that outcomes of hip arthroscopy may be diminished in the setting of hip dysplasia, but outcomes may be acceptable in milder or borderline cases of hip dysplasia. Methods A systematic search was performed in duplicate for studies investigating the outcome of hip arthroscopy in the setting of hip dysplasia up to July 2015. Study parameters including sample size, definition of dysplasia, outcomes measures, and re-operation rates were obtained. Furthermore, the levels of evidence of studies were collected and quality assessment was performed. Results The systematic review identified 18 studies investigating hip arthroscopy in the setting of hip dysplasia, with 889 included patients. Criteria used by the studies to diagnose hip dysplasia and borderline hip dysplasia included centre edge angle in 72% of studies but the range of angles were quite variable. Although 89% of studies reported improved post-operative outcome scores in the setting of hip dysplasia, revision rates were considerable (14.1%), with 9.6% requiring conversion to total hip arthroplasty. Conclusion The available orthopaedic literature suggests that although improved outcomes are seen in hip arthroscopy in the setting of hip dysplasia, there is a high rate of re-operation and conversion to total hip arthroplasty. Furthermore, the criteria used to define hip dysplasia vary considerably among published studies. Cite this article: M. Yeung, M. Kowalczuk, N. Simunovic, O. R. Ayeni. Hip arthroscopy in the setting of hip dysplasia: A systematic review. Bone Joint Res 2016;5:225–231. DOI: 10.1302/2046-3758.56.2000533. PMID:27313136

  17. Monostotic fibrous dysplasia of the lumbar spine.

    PubMed

    Avimadje, A M; Goupille, P; Zerkak, D; Begnard, G; Brunais-Besse, J; Valat, J P

    2000-01-01

    Monostotic fibrous dysplasia is exceedingly rare. We report a case in a 61-year-old woman with a history of recurrent low back pain and sciatica since 35 years of age. While walking, she suddenly experienced pain in her right thigh. The pain spread gradually to the buttock and calf on the same side, becoming increasingly severe. The time pattern was mechanical, with exacerbation during straining. Paresthesia developed over the dorsal aspect of the right foot. Nonsteroidal antiinflammatory drugs were ineffective. Radiographs of the spine showed an expansile and heterogeneous lesion in the body of L2. Hyperactivity of L3 and L4 was seen on the bone scan. Computed tomography demonstrated heterogeneity of L2, L3, and L4, as well as hypertrophy of the neural arch of L3 and of the right posterior lamina and spinous process of L4. Alterations in L2, L3, and L4 were noted on the magnetic resonance imaging study, which showed no evidence of epidural involvement. Laboratory tests were normal. A surgical biopsy of L3 established the diagnosis of fibrous dysplasia. Since the seminal description of fibrous dysplasia in 1891, only 21 cases of monostotic spinal involvement have been published. The spinal lesions can remain clinically silent or cause spinal pain with or without neurological symptoms. Radiographic findings are variable (heterogeneity, osteolysis, expansion without cortical violation or soft tissue involvement). Calcium and phosphate levels are normal. The diagnosis depends on examination of a vertebral biopsy specimen.

  18. Clinical epidemiology of skeletal dysplasias in South America.

    PubMed

    Barbosa-Buck, Cecília O; Orioli, Iêda M; da Graça Dutra, Maria; Lopez-Camelo, Jorge; Castilla, Eduardo E; Cavalcanti, Denise P

    2012-05-01

    Currently accepted birth prevalence for osteochondrodysplasias (OCD) of about 2/10,000 is based on few studies from small series of cases. We conducted a study based on more than 1.5 million births. OCD cases were detected from 1,544,496 births occurring and examined in 132 hospitals of ECLAMC (Latin American Collaborative Study of Congenital Malformations) between 2000 and 2007. Cases were detected and registered according to a pre-established protocol, and then ranked in four diagnostic evidence levels (DEL), according to available documentation. For the analysis of risk factors, a healthy control sample born in the same period was used. OCD was diagnosed in 492 newborns, resulting in a prevalence per 10,000 of 3.2 (95% CI: 2.9-3.5). Perinatal lethality (stillbirths plus early neonatal deaths) occurred in 50% of cases. Prenatal ultrasound diagnosis was made in 73% of cases (n = 359). Among 211 cases from the best documented group (DEL-1) and according to international classification, 33% of cases fit into the G-25 (osteogenesis imperfecta), 29% in Group-1 (FGFR3), and 8% in Group-18 (Bent bones). The prevalence of the main OCD types were: OI-0.74 (0.61-0.89); thanatophoric dysplasia-0.47 (0.36-0.59); and achondroplasia-0.44 (0.33-0.55). Paternal age (31.2 ± 8.5), parity (2.6), and parental consanguinity rate (5.4%) were higher in cases than in controls (P < 0.001). In conclusion, the OCD overall prevalence of 3.2 per 10,000 found seems to be more realistic than previous estimates. This study also confirmed the high perinatal mortality, and the association with high paternal age, parity, and parental consanguinity rate. Copyright © 2012 Wiley Periodicals, Inc.

  19. Congenital Intrahepatic Bile Duct Dilatation is a Potentially Curable Disease

    PubMed Central

    Mabrut, Jean-Yves; Partensky, Christian; Jaeck, Daniel; Oussoultzoglou, Elie; Baulieux, Jacques; Boillot, Olivier; Lerut, Jan; de Ville de Goyet, Jean; Hubert, Catherine; Otte, Jean-Bernard; Audet, Maxime; Ducerf, Christian; Gigot, Jean-François

    2007-01-01

    Objective: To report clinical presentation, perioperative outcome, and long-term results of surgical management of congenital intrahepatic bile duct (IHBD) dilatations (including Caroli disease) in a multi-institutional setting. Summary Background Data: Congenital IHBD dilatations are a rare congenital disorder predisposing to intrahepatic stones, cholangitis, and cholangiocarcinoma. The management remains difficult and controversial for bilobar forms of the disease or when concurrent congenital hepatic fibrosis is associated. Methods: From 1976 to 2004, 33 patients (range 11 to 79 years) were retrospectively enrolled. Disease extent into the liver was unilobar in 26 patients and bilobar in 7 patients (21%). Cholangiocarcinoma, congenital hepatic fibrosis, and intrahepatic stones were present in 2, 10, and 20 patients, respectively. Transplantations or liver resections were performed in 5 and 27 patients, respectively, whereas 1 asymptomatic patient was managed conservatively. Results: Postoperative mortality was nil. Postoperative complications occurred in 16 of 32 operated patients (50%) and additional procedures for residual stones were required in 5 patients. During a median follow-up of 80 months (1 patient being lost for follow-up) no patient developed metachronous carcinoma. Six patients (30%) developed recurrent intrahepatic stones but satisfactory late outcome was achieved in 27 patients (87%). Conclusions: Partial or total liver resection achieves satisfactory late outcome in congenital IHBD dilatations, when the affection is treated at an early stage and when the extent of liver resection is tailored to intrahepatic disease extent and takes into consideration the presence and severity of underlying chronic liver and renal diseases. PMID:17667502

  20. Review article: the clinical management of congenital chloride diarrhoea.

    PubMed

    Wedenoja, S; Höglund, P; Holmberg, C

    2010-02-15

    Congenital chloride diarrhoea in a newborn is a medical emergency, requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. While most of the 250 cases reported arise from Finland, Poland and Arab countries, single cases with this autosomal recessive disorder appear worldwide. Such congenital chloride diarrhoea rarity makes diagnosis difficult. Life-long salt substitution with NaCl and KCl stabilizes fluid, electrolyte and acid-base balance diagnosis. When properly treated, the long-term outcome is favourable. To summarize data on congenital chloride diarrhoea diagnosis, pathophysiology and treatment, and to provide guidelines for both acute and long-term management of congenital chloride diarrhoea. Data are based on MEDLINE search for 'chloride diarrhoea', in addition to clinical experience in the treatment of the largest known series of patients. Treatment of congenital chloride diarrhoea involves (i) life-long salt substitution; (ii) management of acute dehydration and hypokalaemia during gastroenteritis or other infections; and (iii) recognition and treatment of other manifestations of the disease, such as intestinal inflammation, renal impairment and male subfertility. This review summarizes data on congenital chloride diarrhoea and provides guidelines for treatment. After being a mostly paediatric problem, adult patients constitute a rare challenge for gastroenterologists worldwide.