Science.gov

Sample records for congenital radioulnar synostosis

  1. Surgical outcome of delayed presentation of congenital proximal radioulnar synostosis

    PubMed Central

    Garg, Gaurav; Gupta, Som P.

    2015-01-01

    Background: Presentation of proximal radioulnar synostosis varies from cosmetic concerns with no functional limitations to significant pronation deformity which hampers activities of daily living. Surgical management must be considered based on the position of the forearm and functional limitations. We describe the surgical technique, results, and complications of excision of the radial head along with the proximal radius up to the distal extent of the synostosis site and securing the osteotomized radial shaft with a tensor fascia lata graft. Materials and methods: Four patients having six affected elbows with delayed presentation of congenital proximal radioulnar synostosis with dislocated radial head managed surgically were included in the study. There were three males and one female with an average age of 20.25 years (ranging from 16 to 25 years). Preoperatively wrists were locked in the mean pronation position of 51.6° (ranging from 30° to 70°). The indications for surgery were limitation in activities of daily living and an obvious cosmetic deformity. Results: All patients were satisfied with the surgery and showed significant improvement in functional status. Mean active supination was 15° (ranging from 5 to 32°) with passive supination was a mean of 24.8° (ranging from 11° to 44°). Similarly, mean active pronation was 58.5° (ranging from 50° to 71°) with further passive correction up to a mean of 64.16° (ranging from 57° to 87°) at last follow up. Conclusions: This procedure is simple, cost effective, and a reasonable option for treatment of proximal radioulnar synostosis with a dislocated radial head in adult patients. The operation does not require any specialized team or implants, and can be performed in a moderately equipped hospital. PMID:27163088

  2. Two-stage double-level rotational osteotomy in the treatment of congenital radioulnar synostosis.

    PubMed

    El-Adl, Wael

    2007-12-01

    Congenital proximal radioulnar synostosis is a rare congenital anomaly that can be extremely disabling, especially when it occurs bilaterally or if there is severe hyperpronation. Currently, osteotomy to achieve a neutral or slightly pronated position is widely accepted for the management of patients who have severe pronation. The present study evaluates the result of two-stage double-level rotational osteotomy of both the radius and ulna in the treatment of severe congenital radioulnar synostosis. Nine children with severe congenital radioulnar synostosis underwent two-stage double-level rotational osteotomy of both the radius and ulna at Mansoura University Hospital. There were seven boys and two girls with a mean age of 5.6 years who were followed up for a mean of 26 months. The position of the forearm was improved from a mean pronation deformity of 76 degrees (60 degrees to 85 degrees) to 30 degrees of pronation in the affected dominant extremities and 20 degrees of supination in non-dominant extremities in all cases. Bony union was achieved by 5.9 weeks with no loss of correction. The advantages of this technique are that it is easy, safe, with absence of severe postoperative complications and requires a small surgical scar. A drawback of the technique is that the rotation correction depends only on a cast, so that a correction loss might occur if the plaster cast loosens.

  3. Surgical Treatment of Posttraumatic Radioulnar Synostosis

    PubMed Central

    Bigazzi, P.; Casini, C.; De Angelis, C.; Ceruso, M.

    2016-01-01

    Radioulnar synostosis is a rare complication of forearm fractures. The formation of a bony bridge induces functional disability due to limitation of the pronosupination. Although the etiology of posttraumatic synostosis is unknown, it seems that the incidence is higher in patients who have suffered a concomitant neurological or burn trauma, and extensive soft tissue injury, mainly due to high-energy impact. Surgical treatment, such as reinsertion of distal biceps tendon into the radius, seems to be another possible factor. The aim of the surgical treatment is to remove the bony bridge and restore complete range of movement (ROM), thus preventing recurrence. Literature does not indicate a preferred type of surgical procedure for the aforementioned complication; however, it has been shown that surgical interposition of inert material reduces the formation rate of recurrent bony bridge. We describe a surgical technique in two cases in which the radius and ulna were wrapped with allogenic, cadaver fascia lata graft to prevent bony bridge formation. The data from 2 years of follow-up are reported, indicating full restoration of ROM and no recurrence of synostosis. PMID:26977328

  4. Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

    PubMed

    Selicorni, Angelo; Ferrarini, Alessandra; Cagnoli, Giacomo; Fratoni, Alessia; Bottigelli, Michaela; Milani, Donatella

    2005-01-15

    In 1994, Giuffré et al. reported two unrelated families in which some of the members had microcephaly and radio-ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al. and Udler et al. described two distinct patients with a different condition characterized by radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. Here we report on a new case of microcephaly and radio-ulnar synostosis and discuss the possible relationship between Tsukahara's syndrome and the phenotype described by Giuffré et al.

  5. Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

    PubMed Central

    Niihori, Tetsuya; Ouchi-Uchiyama, Meri; Sasahara, Yoji; Kaneko, Takashi; Hashii, Yoshiko; Irie, Masahiro; Sato, Atsushi; Saito-Nanjo, Yuka; Funayama, Ryo; Nagashima, Takeshi; Inoue, Shin-ichi; Nakayama, Keiko; Ozono, Keiichi; Kure, Shigeo; Matsubara, Yoichi; Imaizumi, Masue; Aoki, Yoko

    2015-01-01

    Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome, characterized by thrombocytopenia and congenital fusion of the radius and ulna. A heterozygous HOXA11 mutation has been identified in two unrelated families as a cause of RUSAT. However, HOXA11 mutations are absent in a number of individuals with RUSAT, which suggests that other genetic loci contribute to RUSAT. In the current study, we performed whole exome sequencing in an individual with RUSAT and her healthy parents and identified a de novo missense mutation in MECOM, encoding EVI1, in the individual with RUSAT. Subsequent analysis of MECOM in two other individuals with RUSAT revealed two additional missense mutations. These three mutations were clustered within the 8th zinc finger motif of the C-terminal zinc finger domain of EVI1. Chromatin immunoprecipitation and qPCR assays of the regions harboring the ETS-like motif that is known as an EVI1 binding site showed a reduction in immunoprecipitated DNA for two EVI1 mutants compared with wild-type EVI1. Furthermore, reporter assays showed that MECOM mutations led to alterations in both AP-1- and TGF-β-mediated transcriptional responses. These functional assays suggest that transcriptional dysregulation by mutant EVI1 could be associated with the development of RUSAT. We report missense mutations in MECOM resulting in a Mendelian disorder that provide compelling evidence for the critical role of EVI1 in normal hematopoiesis and in the development of forelimbs and fingers in humans. PMID:26581901

  6. The Dorsoulnar Artery Perforator Adipofascial Flap in the Treatment of Distal Radioulnar Synostosis

    PubMed Central

    Pagnotta, Alessia; Molayem, Iakov

    2017-01-01

    Posttraumatic radioulnar synostosis (RUS) is a rare event following forearm fractures. Consequences are disabling for patients who suffer from functional limitation in forearm pronosupination. Distal RUS are even more rare and more difficult to treat because of high recurrence rates. The patient we describe in this paper came to our attention with a double distal RUS recurrence and a Darrach procedure already performed. We performed a radical excision of RUS and interposition with a vascularized dorsoulnar artery (DUA) adipofascial perforator flap. Four years after surgery, the patient shows the same complete range of motion in pronosupination, and MRI confirms that the flap is still in place with signs of vascularization. Simple synostosis excision has been proven ineffective in many cases. Interposition is recommended after excision, and biological material interposition seems to be more effective than foreign material. Surgeons are increasingly performing vascularized interposition, and the results are very encouraging. PMID:28811948

  7. Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis).

    PubMed

    Beaufrère, Hugues; Ammersbach, Mélanie; Nevarez, Javier; Heggem, Brittany; Tully, Thomas N

    2012-06-01

    A Mississippi kite (Ictinia mississippiensis) was presented to the Wildlife Hospital of Louisiana, School of Veterinary Medicine, Louisiana State University, for an inability to fly and was subsequently diagnosed with a minimally displaced, closed, simple, short oblique, diaphyseal fracture of the distal third of the right ulna. A figure-8 bandage was initially applied to the wing to stabilize the fracture. Over a 5-week period, the kite developed progressive reduction in wing extension, and serial radiographs revealed a bridging callus at the ulnar fracture site, as well as development of a radioulnar synostosis. To restore wing function and extension, surgical excision of the bony union between the radius and the ulna was performed, after which a polypropylene mesh implant was interposed between the 2 bones. Within 2 weeks after the surgical procedure, the kite had recovered normal wing extension and was able to fly without noticeable impairment. The bird was released 2 weeks after surgery. This case illustrates a common complication of external coaptation used as sole means of managing fractures of the avian ulna, radius, or both, which results from lack of interosseous soft tissue in the antebrachial area. On the basis of the successful outcome in this case, surgical excision of the interdiaphyseal callus and interposition of a polypropylene mesh could be a viable option for management of posttraumatic radioulnar synostosis in birds of prey.

  8. Adipofascial radial artery perforator flap interposition to treat post-traumatic radioulnar synostosis in a patient with head injury

    PubMed Central

    Samson, Deepak; Power, Dominic; Tan, Simon

    2015-01-01

    We report this 47-year-old man who presented with polytrauma following a fall from a roof in March 2011. He sustained a head injury and a complex, comminuted forearm fracture. He underwent an open reduction and internal fixation of the fracture at the time of injury, but later developed a rigid type 2 diaphyseal radioulnar synostosis, with loss of forearm rotation. Synostosis excision and a radial artery perforator-based adipofascial interposition flap to prevent recurrence has resulted in a good functional outcome and no recurrence at 2.5 years follow-up. PMID:25725026

  9. Malpositioned olecranon fracture tension-band wiring results in proximal radioulnar synostosis.

    PubMed

    Willinger, Lukas; Lucke, Martin; Crönlein, Moritz; Sandmann, Gunther H; Biberthaler, Peter; Siebenlist, Sebastian

    2015-10-29

    Tension-band wiring (TBW) is a well-established fixation technique for two-part, transverse fracture types of the olecranon. However, complication rates up to 80 % are reported. By reporting on the enormous impact on the patient if failed the aim of the present report was to emphasize the importance of correct K wire positioning in TBW. We present the case of a 49-year-old woman who suffered from a radioulnar synostosis of the forearm due to malpositioned K wires after TBW treatment. The patient was treated by heterotopic bone resection supported by ossification prophylaxis (radiotherapy and Indomethacin). At follow-up of 12 months after revision surgery, elbow motion was unrestricted with a strength grade 5/5. The patient was free of pain and reported no restrictions in daily as well as sporting activities. Radiologic assessment showed no recurrence of heterotopic bone tissue. Intraoperative radiographic and clinical examination of the elbow is highly recommended to identify incorrect hardware positioning and, therefore, to avoid serious postoperative complications in TBW.

  10. 46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis

    SciTech Connect

    James, C.; Robson, L.; Jackson, J.

    1995-05-08

    Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism. 17 refs., 3 figs., 2 tabs.

  11. Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance.

    PubMed

    Gaspar, Harald; Albermann, Kurt; Baumer, Alessandra; Schinzel, Albert

    2008-06-01

    Two families and three sporadic cases have been described so far with the combination of radio-ulnar synostosis and microcephaly as main features. Some authors have discussed whether the first family reported by Giuffrè et al. [1994] and the second family described by Tsukahara et al. [1995] had the same syndrome. Although there is phenotypic variability among the described cases (especially with respect to facial dysmorphisms and mental retardation), the clinical patterns do not seem to be clearly distinguishable from each other. We describe another family with apparent X-linked semi-dominant inheritance with milder features in the female patient due to skewed X-inactivation. From a clinical synopsis, we consider the Giuffrè-Tsukahara syndrome as one genetic entity, which is characterized by the association of microcephaly and radio-ulnar synostosis, mental retardation in male patients and variable minor features. Patients with the Giuffrè-Tsukahara syndrome do not present with a characteristic pattern of facial features.

  12. Radiological Assessment of the Effect of Congenital C3-4 Synostosis on Adjacent Segments

    PubMed Central

    Moon, Myung-Sang; Kwon, Ki-Tae; Kim, Sung-Su; Lin, Jin-Fu; Lee, Bong-Jin

    2015-01-01

    Study Design Retrospective case series. Purpose To assess the effect of non-kyphotic aligned congenital C3-4 synostosis on the adjacent segment in 10 patients. Overview of Literature In the cervical spine, fusion disease at the adjacent motion segments may be a risk factor for potential neurological compromise and death. Methods Radiograms of 10 patients 13 to 69 years of age presenting with neck/shoulder discomfort or pain with or without trauma history were examined. C3-4 synostosis was found incidentally in all patients on routine examination radiographs of cervical spine. Results Adjacent segment disease (ASD) was not found in the three patients younger than 39 years of age. Five of the 10 (50%) patients, including a 67-year-old man, did not develop spondylosis in any of the cervical mobile segments. Spondylosis was observed only in the caudal 1-2 mobile segments in the remaining five patients. The youngest was a 40-year-old male who had spondylosis in the two caudal mobile segments (C4-5 and C5-6). Spondylosis was limited to the two close caudal mobile segments and was not in the cranial segments. Flaring of the lower part of synostotic vertebra associated with advanced narrowed degenerate disc was evident in five patients. Conclusions Mobile segment spondylosis in the individuals with congenital monosegment C3-4 synostosis over age of 40 years may be a natural manifestation of aging and is not solely an adjacent segment disease directly and fully related with congenital C3-4 synostosis. PMID:26713122

  13. An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.

    PubMed

    Diehl, Adam; Mu, Weiyi; Batista, Denise; Gunay-Aygun, Meral

    2015-07-01

    We describe a 0.73 Mb duplication of chromosome 22q11.21 between LCR-B and LCR-D and a missense mutation in a conserved C2H2 zinc finger domain of SALL4 in a cognitively normal patient with multiple skeletal anomalies including radioulnar synostosis, thumb aplasia, butterfly vertebrae, rib abnormalities, and hypoplasia of the humeral and femoral epiphyses. 22q11.21 is a common site for microdeletions and their reciprocal microduplications as a result of non-allelic homologous recombination between its multiple low copy repeat regions (LCR). DiGeorge /Velocardiofacial syndrome (DG/VCFS) is classically caused by a 3 Mb deletion between LCR-A and LCR-D or a 1.5 Mb deletion between LCR-A and LCR-B. The reciprocal syndrome to DG/VCFS is the recently described 22q11.2 microduplication, which usually presents with the typical 3 Mb or 1.5 Mb duplication. Numerous atypical deletions and duplications have been reported between other LCRs. Typically, SALL4-related Duane-radial ray syndrome is caused by deletions or nonsense mutations; the only missense SALL4 mutation described prior was thought to result in gain of function and produced cranial midline defects. The skeletal anomalies presented in this report have not been previously described in association with 22q11.2 microduplication nor SALL4 mutations.

  14. A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.

    PubMed

    Mutesa, Leon; Jamar, Mauricette; Hellin, Anne Cecile; Pierquin, Genevieve; Bours, Vincent

    2012-09-01

    While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

  15. Two cases of feline ectromelia: autopodium ectromelia associated with humero-ulnar synostosis and zeugopodium ectromelia.

    PubMed

    Macrì, Francesco; De Majo, Massimo; Rapisarda, Giuseppe; Mazzullo, Giuseppe

    2009-08-01

    Congenital limb deformities are rarely reported in cats. This paper describes the radiographic findings of congenital forelimb malformations in two cats. The radiographic changes were suggestive of an autopodium ectromelia associated with humero-ulnar synostosis in one case and zeugopodium ectromelia in the other case. Congenital feline limb deformities are poorly documented and, to the authors' knowledge, this is the first time that humero-ulnar synostosis has been reported in cats.

  16. Distal radioulnar joint injuries

    PubMed Central

    Thomas, Binu P; Sreekanth, Raveendran

    2012-01-01

    Distal radioulnar joint is a trochoid joint relatively new in evolution. Along with proximal radioulnar joint, forearm bones and interosseous membrane, it allows pronosupination and load transmission across the wrist. Injuries around distal radioulnar joint are not uncommon, and are usually associated with distal radius fractures,fractures of the ulnar styloid and with the eponymous Galeazzi or Essex_Lopresti fractures. The injury can be purely involving the soft tissue especially the triangular fibrocartilage or the radioulnar ligaments. The patients usually present with ulnar sided wrist pain, features of instability, or restriction of rotation. Difficulty in carrying loads in the hand is a major constraint for these patients. Thorough clinical examination to localize point of tenderness and appropriate provocative tests help in diagnosis. Radiology and MRI are extremely useful, while arthroscopy is the gold standard for evaluation. The treatment protocols are continuously evolving and range from conservative, arthroscopic to open surgical methods. Isolated dislocation are uncommon. Basal fractures of the ulnar styloid tend to make the joint unstable and may require operative intervention. Chronic instability requires reconstruction of the stabilizing ligaments to avoid onset of arthritis. Prosthetic replacement in arthritis is gaining acceptance in the management of arthritis. PMID:23162140

  17. Distal Radioulnar Joint Instability

    PubMed Central

    Mirghasemi, Ali R.; Lee, Daniel J.; Rahimi, Narges; Rashidinia, Shervin

    2015-01-01

    Distal radioulnar joint (DRUJ) instability is a common clinical condition but a frequently missed diagnosis. Both surgical and nonsurgical treatments are possible for chronic cases of DRUJ instability. Nonsurgical treatment can be considered as the primary therapy in less active patients, while surgery should be considered to recover bone and ligament injuries if nonsurgical treatment fails to restore forearm stability and function. The appropriate choice of treatment depends on the individual patient and specific derangement of the DRUJ PMID:26328241

  18. Scaphoid Fracture in a Patient with a Scaphotrapezial Synostosis: A Case Report and Literature Review

    PubMed Central

    Ali, Mohammed; Fallahi, Farshid; Dehler, Thomas

    2017-01-01

    Introduction. Scaphotrapezial synostosis has been rarely reported in the literature and only one case underwent surgical treatment for scaphoid fracture. Presentation of Case. A 15-year-old male presented with a painful left wrist following a fall. The initial radiographs showed a displaced scaphoid proximal pole fracture and a Scaphotrapezial synostosis. The fracture was then fixed percutaneously with satisfactory outcome. Discussion. Scaphotrapezial synostoses are very rare and most found in patients with multiple congenital anomalies or as part of a hereditary syndrome. They have previously been reported; however, we found only one case reporting a concomitant scaphoid fracture. Conclusion. This is the second case of its kind to report surgical treatment of scaphoid fracture associated with a congenital Scaphotrapezial synostosis. PMID:28197353

  19. Semiconstrained Distal Radioulnar Joint Prosthesis

    PubMed Central

    Savvidou, Christiana; Murphy, Erin; Mailhot, Emilie; Jacob, Shushan; Scheker, Luis R.

    2013-01-01

    Distal radioulnar joint (DRUJ) problems can occur as a result of joint instability, abutment, or incongruity. The DRUJ is a weight-bearing joint; the ulnar head is frequently excised either totally or partially, and in some cases it is fused, because of degenerative, rheumatoid, or posttraumatic arthritis. Articles about these procedures report the ability to pronate and supinate, but they rarely discuss grip strength, and even less do they address lifting capacity. We report the long term results of the first 35 patients who underwent total DRUJ arthroplasty with the Aptis DRUJ prosthesis after 5 years follow-up. Surgical indications were all causes of dysfunctional DRUJ (degenerative, posttraumatic, autoimmune, congenital). We recorded data for patient demographics, range of motion (ROM), strength, and lifting capacity of the operated and of the nonoperated extremity. Pain and functional assessments were also recorded. The Aptis DRUJ prosthesis, a bipolar self-stabilizing DRUJ endoprosthesis that restores forearm function, consists of a semiconstained and modular implant designed to replace the function of the ulnar head, the sigmoid notch of the radius, and the triangular fibrocartilage ligaments. The surgical technique is presented in detail. The majority of the patients regained adequate ROM and improved their strength and lifting capacity to the operated side. Pain and activities of daily living were improved. Twelve patients experienced complications, most commonly being extensor carpi ulnaris (ECU) tendinitis, ectopic bone formation, bone resorption with stem loosening, low-grade infection, and need for ball replacement. The Aptis total DRUJ replacement prosthesis is an alternative to salvage procedures that enables a full range of motion as well as the ability to grip and lift weights encountered in daily living activities. PMID:24436788

  20. A newborn with trisomy 13 who had tetralogy of Fallot and metopic synostosis: Case report

    PubMed Central

    Karabel, M; Yolbaş, I; Kelekçi, S; Şen, V; Haspolat, YK; Timuroğlu, L

    2013-01-01

    Background and Aim: Trisomy 13 (Patau syndrome) was first described by Patau et al in 1960. It is characterized by serious head, facial, and extremity anomalies, congenital heart defects, and mental abnormalities. The incidence rate of Trisomy 13 is 1/10.000 live births. Accompanying symptoms and findings vary in rate and severity among the cases. Tetralogy of Fallot and metopic synostosis are very rare abnormalities in patients with Trisomy 13. In this study, we aimed to present a newborn girl with trisomy 13 who had multiple congenital malformations accompanied by tetralogy of Fallot and metopic synostosis. Description of the case: The patient was delivered at 40 weeks of gestation, and admitted to the neonatal intensive care unit due to respiratory distress and physical abnormalities. The newborn examination revealed multiple dysmorphic features. She had boot-shaped appearance on the chest radiograph. Chromosome analysis demonstrated mosaic trisomy 13. Conclusion: Patients with trisomy 13 may have different type of gene variations and malformations; however, the most common type of gene variation is classic trisomy 47, XX +13, and the most common malformations are facial anomalies and congenital heart defects. In addition, tetralogy of Fallot and metopic synostosis may accompany trisomy 13. PMID:24470740

  1. Synostosis of the Proximal Tibiofibular Joint

    PubMed Central

    Sferopoulos, Nikolaos K.

    2010-01-01

    The incidence of synostosis of the proximal tibiofibular joint (TFJ) was assessed among 1029 patients examined for osteoarthritis of the knee in a 4-year period. Radiographic evidence of a synostosis of the proximal TFJ was demonstrated in 3 knees (3 patients). The synostosis appeared incidental and was not the cause of symptoms in any of them. These patients were further examined with MRI and/or CT scans. In two cases, which were found to be primary (idiopathic), the synostosis was complete and bony. In a third case the lesion was secondary (acquired) to surgical reconstruction for a depressed fracture of the lateral tibial plateau. This iatrogenic complication followed open reduction, internal fixation, and grafting with synthetic bone. The bridging of the joint on the CT views was partial and compatible with ectopic calcification rather than ossification. The patients were treated conservatively and were followed for an average period of 3 years. No evidence that the synostosis accelerated the onset or progression of the degenerative changes to the ipsilateral knee could be verified. PMID:20592991

  2. Achondroplasia with synostosis of multiple sutures.

    PubMed

    Georgoulis, George; Alexiou, George; Prodromou, Neofytos

    2011-08-01

    We report for the second time on a case of achondroplasia with synostosis of multiple sutures. The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. Imaging studies disclosed complex craniosynostosis and neurosurgical intervention was carried out, particularly for posterior plagiocephaly. Copyright © 2011 Wiley-Liss, Inc.

  3. Thoracic outlet syndrome caused by synostosis of the first and second thoracic ribs: 2 case reports and review of the literature.

    PubMed

    Reidler, Jay S; Das De, Soumen; Schreiber, Joseph J; Schneider, Darren B; Wolfe, Scott W

    2014-12-01

    We present 2 cases of combined arterial and neurogenic thoracic outlet syndrome triggered by trauma in patients with congenital synostoses of the first and second ribs. These patients were successfully treated with supraclavicular resection of the first and second ribs and scalenectomy. We review these cases and the associated literature on thoracic outlet syndrome and rib synostosis.

  4. Tibiofibular synostosis in a professional football player.

    PubMed

    James, S H; Carpenter, E C; Fairclough, J A

    2007-01-01

    We present an unusual cause of anterior tibial pain in a 24-year-old professional international football player who was found to have a synostosis of the middle-third of the diaphysis of the tibia and fibula. This is a rarely described phenomenon. Conservative treatment is the recommended treatment of choice, but this failed in our patient. Resection produced resolution of symptoms; he remained symptom-free three years later.

  5. Isolated ring-little finger metacarpal synostosis: a new classification system and treatment strategy.

    PubMed

    Liu, Bo; Zhao, Jun-Hui; Tian, Wen; Chen, Shan-Lin; Li, Chun; Zhu, Jin

    2014-01-01

    To devise a comprehensive classification system for isolated ring-little finger metacarpal synostosis that offers a clear guide to specific treatment for each variation of the deformity. Based on the experience of 13 cases (20 hands) of isolated ring-little finger metacarpal synostosis, we devised a classification system that takes into account 2 key pathological features of this malformation: the fourth-fifth intermetacarpal angle and the severity of hypoplasia of the fifth ray. In our classification, all patients were divided into 3 types, according to the fourth-fifth intermetacarpal angle, and each type was further subdivided into 2 subtypes according to the length of the fifth ray. All 20 hands could be classified according to our classification, including 2 hands of type A (both A1), 10 hands of type B (9 B1; 1 B2), and 8 hands of type C (7 C1; 1 C2). Patients of different classification types received different treatments according to our proposed classification-related guidelines. It was also possible to classify all the cases found in literature according to this scheme. Our classification for ring-little finger metacarpal synostosis is simple and easy to remember. It is applicable to all possible variations of the congenital anomaly and can guide treatment for the whole spectrum of the deformity. Therapeutic V. Copyright © 2014 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  6. Endoscopic-assisted correction of metopic synostosis.

    PubMed

    Gociman, Barbu; Agko, Mouchammed; Blagg, Ross; Garlick, Jared; Kestle, John R W; Siddiqi, Faizi

    2013-05-01

    Our 6-year experience with correction of metopic synostosis using a minimally invasive endoscopic-assisted technique followed by postoperative cranial vault helmet molding is presented. In addition, a simple, objective method for quantification of the frontal vault contour is described.A total of 16 patients, 13 males and 3 females, with nonsyndromic, single-suture synostosis were included in the study. Patient age at operation averaged 2.9 months and the mean weight was 6 kg. The mean operative time was 79 minutes. The estimated blood loss during the procedure was 82.8 mL. Three patients required blood transfusions (18.7%). There were no significant postoperative complications. The mean hospitalization was 1.6 days. The average surgical cost, including the helmets, was $12,400, in contrast to $33,000 charged for the equivalent open procedure.Very good esthetic results, judged by physical examination and photograph comparison, were obtained in all patients. No relapses were noted. Objectively, the outcome of the operative repair was evaluated using laser scanning. For quantification of the distortion and the postoperative level of correction, the metopic angle was defined and used. This angle changed from preoperative value of 104.9 degrees to 111.3 degrees at 3 months (P = 1.59E-06) and to 114.9 degrees at 1 year postoperatively (P = 2.51E-09).Due to its promising attributes, minimally invasive strip craniectomy emerges as an ideal modality for correction of metopic synostosis. Furthermore, the metopic angle should provide clinicians with an objective measure of the frontal cranial vault deformity and its correction.

  7. INDICATIONS FOR DISTAL RADIOULNAR ARTHROPLASTY: REPORT ON THREE CLINICAL CASES

    PubMed Central

    Santos, Cláudia; Pereira, Alexandre; Sousa, Marco; Trigeuiros, Miguel; Silva, César

    2015-01-01

    Distal radioulnar arthroplasty is an attractive solution for treating various pathological conditions of the distal radioulnar joint because it allows restoration of stability, load transmission and function. The main indications are: radioulnar impingement after partial or complete resection of the distal ulna; and degenerative, inflammatory or post-traumatic arthritis of the distal radioulnar joint. The authors present three clinical cases of distal radioulnar pathological conditions: two patients with post-traumatic sequelae and one case of distal radioulnar impingement after a Sauvé-Kapandji operation. The three cases were treated surgically with a metallic prosthesis to replace the distal ulna (First Choice - Ascension®). The first two were treated with a resurfacing prosthesis and the last one with a modular prosthesis. All of the patients had achieved pain relief and increased movement of the distal radioulnar joint after one year of postoperative follow-up. PMID:27047827

  8. Influence of metopic suture fusion associated with sagittal synostosis.

    PubMed

    Domeshek, Leahthan F; Das, Rajesh R; Van Aalst, John A; Mukundan, Srinivasan; Marcus, Jeffrey R

    2011-01-01

    Some patients with sagittal synostosis present with a fused metopic suture. We hypothesize that premature metopic suture fusion consistently and identifiably alters form associated with sagittal synostosis. We previously validated three-dimensional vector analysis as a tool for the study of cranial morphology and used it herein to distinguish between dysmorphologies of isolated sagittal synostosis (ISS) and combined sagittal-metopic synostosis (CSM). Preoperative computed tomographic scans for patients with ISS and CSM were compared with matched normative counterparts. Premature metopic suture fusion was defined by established radiographic criteria. Color-coded point clouds were created for each scan, with color gradient based on patient deviation from normal across the dysmorphic skull. Standard deviation data were evaluated in 7 cranial regions and compared between ISS and CSM. Mean ISS and CSM point clouds were evaluated. Using three-dimensional vector analysis, standard anthropometric data/indices were determined and compared between the 2 groups. Differences in ISS and CSM regional deviations and index measurements were not statistically significant. Mean ISS and CSM representations depicted similar overall morphology. Using accepted criteria for identification of metopic synostosis in CSM, only subtle differences appear between the 2 populations on average. Expected morphologic changes associated with metopic synostosis are present in only a small number of patients with CSM, arguing against our hypothesis, and calling into question the criteria used to identify premature metopic suture fusion. Normal metopic suture fusion occurs for a continuum of time. Our findings suggest that the normal continuum may begin earlier than the literature suggests. In the setting of sagittal synostosis, the influence of metopic suture fusion and treatment is best determined by individual morphologic analysis.

  9. Capitate-trapezoid synostosis: analysis of an Early Bronze Age case and review of the literature.

    PubMed

    Saccheri, P; Sabbadini, G; Crivellato, E; Canci, A; Toso, F; Travan, L

    2017-01-01

    Carpal synostoses are congenital defects characterised by complete or incomplete coalition of two or more carpal bones. Although most of these defects are discovered only incidentally, sometimes they become clinically manifest. Among the different types of carpal coalition, the synostosis between capitate and trapezoid bones is quite rare, with only sparse data available in the literature. The aim of this report was to describe a case of capitate-trapezoid synostosis (CTS) observed in an ancient human skeleton, as well as to scrutinise the pertinent literature in order to assess for the characteristics of this type of defect, including its potential relevance to clinical practice. We studied the skeletal remains of an Early Bronze Age male warrior affected by incomplete CTS. Macroscopic and radiological examination of the defect was carried out. We also performed a comprehensive PubMed search in the Medline and other specialty literature databases to retrieve and analyse data relevant to the subject under consideration. The present case is the most ancient CTS ever found. In those literature-reported cases accompanied by careful anatomical description, such as the present one, incomplete coalition invariably occurs between the dorsal surfaces of the two bones, this characteristic emerging as a distinctive morphological trait. Literature analysis further suggests that the true prevalence of CTS is likely to be higher than estimates based on data gathered from radiology series, and that this defect may be associated with pain and carpal bossing more frequently than generally thought.

  10. Evolution of the distal radioulnar joint.

    PubMed

    Almquist, E E

    1992-02-01

    The evolution of the wrist joint began 400 million years ago with the pectoral fins in primitive fish. The five-rayed extremity with 13 carpal bones and a syndesmotic distal radioulnar joint first appeared in the primitive amphibian, Eryops, some 230 million years ago. These characteristics remained similar through the evolution of the amphibians and of mammals and were retained when primates evolved to hominids. As later-developing, larger-sized hominids began competing for food, brachiation (the ability to swing from tree branch to tree branch) became more important, and a synovial distal radioulnar joint evolved, allowing pronation/supination of the wrist. The development of bipedalism freed the upper extremity from the requirements of locomotion, placing greater emphasis on increasing wrist mobility. The ability to supinate and pronate was an immense advantage to hominids in caring for their young, defending themselves, and gathering food. It was also critical in efficient tool handling, which developed two million years ago. The mobility of the distal radioulnar joint, along with the prehensile thumb and increasing brain function, are hallmarks of the late-evolving hominids.

  11. Elbow Position Affects Distal Radioulnar Joint Kinematics

    PubMed Central

    Fu, Eric; Li, Guoan; Souer, Sebastiaan; Lozano-Calderon, Santiago; Herndon, James H.; Jupiter, Jesse B.; Chen, Neal C.

    2009-01-01

    Previous in vivo and in vitro studies of forearm supination/pronation suggest that distal radioulnar joint kinematics may be affected by elbow flexion. The primary hypotheses tested by this study were that in vivo: 1) ulnar variance changes with elbow flexion and forearm rotation and 2) the arc of forearm rotation changes in relationship to elbow flexion. Materials and Methods Changes in radioulnar kinematics during forearm supination/pronation and elbow flexion (0–90°) were studied in five uninjured subjects using computed tomography, dual-orthogonal fluoroscopy, and three-dimensional modeling. Analysis of variance and post-hoc testing was performed. Results Proximal translation of the radius was greatest with the elbow flexed to 90° with the arm in mid-pronation. With the arm in mid-pronation, the translation of the radius was significantly greater at 0° versus 45° of elbow flexion (0.82 ± 0.59 mm v. 0.65 ± 0.80 mm, F: 4.49, Post Hoc: 0.055; p = 0.05), and significantly smaller at 45° versus 90° of elbow flexion (0.65 ± 0.80 mm v. 0.97 ± 0.35 mm, F: 4.49, Post Hoc: 0.048; p = 0.05). Proximal translation of the radius in mid-pronation was significantly greater than when the forearm was in a supinated position when the elbow was at 0° or 90° flexion (F: 14.90, post-hoc: < 0.01; p < 0.01, F: 19.11, post-hoc: < 0.01, p < 0.01). The arc of forearm rotation was significantly decreased at 0° compared to 90° of elbow flexion (129.3 ± 22.2° v 152.8 ± 14.4°, F: 3.29, post-hoc: 0.79; p = 0.09). The center of rotation shifted volarly and ulnarly with increasing elbow extension. Discussion Elbow position affects the kinematics of the distal radioulnar joint. The kinematics of the distal radioulnar joint are primarily affected by forearm rotation and secondarily affected by elbow flexion. These findings have clinical relevance to our understanding of ulnar impaction, and how elbow position affects the proximal-distal translation of the radius. These

  12. A New Distal Radioulnar Joint Prosthesis

    PubMed Central

    Schuurman, Arnold H.

    2013-01-01

    Pain and instability of the distal radioulnar joint (DRUJ) are common sequelae following a fracture of the distal radius. Many soft tissue procedures have been described, not all of which are successful. Ulnar head replacement prostheses are available but do not always provide stability. We designed a two-part, easy to implant, distal radioulnar prosthesis and implanted it in 19 patients. The first prototype was inserted in 2002 and is still in place. During the study, the design was changed twice, resulting in three groups with four patients in group A, five in group B, and ten in group C. Unfortunately all five prostheses in group B had to be removed because of loosening, while only two prostheses in group C had to be removed, for nonprosthetic reasons. For the 12 patients who retained their prosthesis, forearm function increased while grip strength increased significantly. Pain scores decreased and the Disabilities of the Arm, Shoulder, and Hand (DASH) score improved but remained high. We conclude that the prosthesis offers a new treatment option for ulnar instability following distal ulnar resection. PMID:24436843

  13. A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.

    PubMed

    Aypar, Ebru; Yildirim, M Selman; Sert, Ahmet; Ciftci, Ilhan; Odabas, Dursun

    2011-03-01

    Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype. Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the frontal suture. It results in a V-shaped abnormality at the front of the skull. MS may occur in a syndromic or nonsyndromic form. We report on a 24-day-old girl with hypotonia, MS, trigonocephaly, capillary hemangioma, hypotelorism, upward slanting palpebral fissures, epicanthal folds, small nose with anteverted nares, high palate, ankyloglossia, long philtrum, low-set ears, short neck, postaxial polydactyly of both hands and feet and congenital heart defect. Cytogenetic analysis demonstrated trisomy 13 mosaicism; 46,XX[58]/47,XX,+13[42]. Although MS has been previously reported in complete and partial forms of trisomy 13, it has not been reported in mosaic form of trisomy 13. Our report supports the evidence that trisomy 13 causes MS. It also emphasizes the need for cytogenetic investigations in patients presenting with MS and multiple congenital anomalies for providing accurate diagnosis, genetic counseling, and prenatal diagnosis.

  14. New Pattern of Sutural Synostosis Associated With TWIST Gene Mutation and Saethre-Chotzen Syndrome: Peace Sign Synostosis.

    PubMed

    Tahiri, Youssef; Bastidas, Nicholas; McDonald-McGinn, Donna M; Birgfeld, Craig; Zackai, Elaine H; Taylor, Jesse; Bartlett, Scott P

    2015-07-01

    The authors present a new and unique pattern of sutural fusion "peace sign synostosis" (PSS) characterized by synostosis of the metopic, bicoronal, and sagittal sutures and associated with abnormalities of the TWIST1 gene known to be associated with Saethre-Chotzen syndrome (SCS). To do so, we performed a retrospective review of patients with bicoronal, metopic, and at least partial anterior sagittal synostoses at the Children's Hospital of Philadelphia and Seattle Children's Hospital. Patients' demographics, genetic analysis, perioperative and clinic notes were reviewed. Five patients were identified with PSS and abnormalities of TWIST1 consistent with SCS. One patient, with the longest follow-up of 7 years, underwent 5 intracranial procedures and required a ventriculoperitoneal (VP) shunt. The remaining 4 patients underwent posterior cranial vault distraction as the initial procedure, followed by anterior cranial vault remodeling. Two patients required a VP shunt. To conclude, synostosis of the metopic, bicoronal, and sagittal sutures (PSS) appears to be associated with SCS and produces a characteristic skull morphology that can be readily identified on physical examination. Early data suggest a high rate of reoperation, increased necessity for a VP shunt, and potential complications. Of note, this novel phenotype had not been previously observed at our respective institutions, reported in the literature, or observed in association with TWIST1 abnormalities as described in association with SCS.

  15. Urolithiasis in a child with Spondylocarpotarsal Synostosis Syndrome: A Co-Incidence

    PubMed Central

    Singh, Ankur; Kapoor, Seema; Pradhan, Gaurav

    2013-01-01

    Spondylocarpotarsal synostosis syndrome (SSS) is an autosomal recessive condition which is characterized by short stature, a carpotarsal coalition and a vertebral fusion, but without any rib anomaly. We are presenting a 7– year– old boy, who had uroliathiasis with the spondylocarpotarsal synostosis syndrome. This association, to the best of our knowledge, has not been reported so far. PMID:24179936

  16. Acute injuries of the distal radioulnar joint.

    PubMed

    Nicolaidis, S C; Hildreth, D H; Lichtman, D M

    2000-08-01

    Distal radioulnar joint injuries can occur in isolation or in association with distal radius fractures, Galeazzi fractures, Essex-Lopresti injuries, and both-bone forearm fractures. The authors have classified DRUJ/TFCC injuries into stable, partially unstable (subluxation), and unstable (dislocation) patterns based on the injured structures and clinical findings. Clinical findings and plain radiographs are usually sufficient to diagnose the lesion, but axial CT scans are pathognomonic. Diagnostic arthroscopy is the next test of choice to visualize stable and partially unstable lesions. Stable injuries of the DRUJ/TFCC unresponsive to conservative measures require arthroscopic debridement of the TFCC tear, along with ulnar shortening if there is ulnar-positive variance. Partially unstable injuries, on the other hand, are treated with direct arthroscopic or open repair of the TFCC tear, once again, along with ulnar shortening if ulnar-positive variance is present. Unstable injuries include simple and complex DRUJ dislocations. A simple DRUJ dislocation is easily reducible but may be stable or unstable. In complex dislocation, reduction is not possible because there is soft tissue interposition or a significant tear. After the associated injury is dealt with, treatment for complex injuries requires exploration of the DRUJ, extraction of the interposed tissue, repair of the soft tissues, and open reduction and internal fixation of the ulnar styloid fracture (if present and displaced). The early recognition and appropriate treatment of an acute DRUJ injury are critical to avoid progression to a chronic DRUJ disorder, the treatment of which is much more difficult and much less satisfying.

  17. Management of isolated sagittal synostosis in the absence of scaphocephaly: a series of eight cases.

    PubMed

    Morritt, Daniel G; Yeh, Fang-Jui J; Wall, Steve A; Richards, Peter G; Jayamohan, Jayaratnam; Johnson, David

    2010-08-01

    The diagnosis of isolated sagittal synostosis is usually made at birth, with a boat-shaped deformity of the skull (scaphocephaly). The Oxford Craniofacial Unit has successfully managed eight cases of isolated sagittal synostosis without scaphocephaly. To the authors' knowledge, there have been no reports of this in the literature. The Oxford Craniofacial Unit database (set up in 2004) was searched. This identified 193 cases of isolated sagittal synostosis, eight of which did not have a scaphocephalic head shape (i.e., a cephalic index <76). Patients with isolated sagittal synostosis in the absence of scaphocephaly represent 4.1 percent of all isolated sagittal synostosis patients in the authors' database. Intracranial pressure was measured in six of the eight cases and found to be high in four of these (67 percent). It is unclear why the secondary features of sagittal synostosis did not develop in these cases. Possible explanations include fusion of the suture late after the majority of skull growth has taken place and a patent metopic suture allowing growth to occur anteriorly; other sutures appeared patent radiologically but may not have been functioning normally. Although difficult to recognize, patients with isolated sagittal synostosis in the absence of scaphocephaly are important to identify because they are at high risk of developing raised intracranial pressure. A new management algorithm for treatment of these cases is described that has been used successfully in the Oxford Craniofacial Unit.

  18. Non-reducible palmar dislocation of the distal radioulnar joint

    PubMed Central

    Zannou, Rupestre S.; Rezzouk, Joel; Ruijs, Aleid C.J.

    2015-01-01

    Abstract A rare case of an isolated traumatic palmar dislocation of the distal radioulnar joint is presented. Clinically, there is a loss of pronation and supination. The dislocation was treated using an open reduction, reinsertion of the capsule-ligamentous complex and temporary stabilization using K-wires. PMID:26158121

  19. Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.

    PubMed

    Guilherme, Romain; Baumann, Clarisse; Garel, Catherine; Huten, Yolène; Oury, Jean-François; Delezoide, Anne-Lise

    2008-07-15

    We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with previous cases of humero-radial synostosis as a prominent manifestation and with the X-linked lissencephaly with ambiguous genitalia syndrome (X-LAG). To our knowledge, this combination of anomalies has never been described before, and we propose that this disorder comprises a new humero-radial synostosis syndrome with an autosomal recessive or X-linked pattern of inheritance.

  20. POINT OF MAXIMUM WIDTH: A NEW MEASURE FOR ANTHROPOMETRIC OUTCOMES IN PATIENTS WITH SAGITTAL SYNOSTOSIS

    PubMed Central

    Gangopadhyay, Noopur; Shah, Manjool; Skolnick, Gary B; Patel, Kamlesh B; Naidoo, Sybill D; Woo, Albert S

    2014-01-01

    The aesthetic success of sagittal synostosis reconstruction is measured by cephalic index (CI). This limited measure does not fully account for the abnormal head shape in sagittal synostosis. In this retrospective study, we investigate a new objective measure, point of maximum width (PMW) of the skull from a vertex view, to determine where the head is widest for children with sagittal synostosis as compared to normal controls. Preoperative CT scans of 27 children with sagittal synostosis and 14 postoperative CT scans at least 8 months after surgery were obtained. Normal CT scans were matched for age, gender, and race. Three-dimensional renderings were standardized for orientation. Average PMW in patients with sagittal synostosis was 53% ± 1% compared to 57% ± 1% in controls (p<0.001). Average CI in patients with sagittal synostosis was 66.8% ± 0.8% compared to 83.3% ± 1.0% in controls (p<0.001). The correlation between PMW and CI was weak in both controls (R2=0.002, p=0.824) and uncorrected cases (R2=0.083, p=0.145). After surgical correction, both CI and PMW significantly improved. Average PMW in patients after surgical release of sagittal synostosis was 58% ± 1% compared to 58% ± 1% in controls (p=0.986). PMW is not a surrogate for CI but is a novel, valid measure of skull shape, which aids in quantifying the widest region of the skull. PMW is significantly more anterior in children with sagittal synostosis and exhibits a consistent posterior shift along the cranium after surgery, showing no difference compared to healthy children. PMID:25006901

  1. Point of maximum width: a new measure for anthropometric outcomes in patients with sagittal synostosis.

    PubMed

    Gangopadhyay, Noopur; Shah, Manjool; Skolnick, Gary B; Patel, Kamlesh B; Naidoo, Sybill D; Woo, Albert S

    2014-07-01

    The esthetic success of sagittal synostosis reconstruction is measured by cephalic index (CI). This limited measure does not fully account for the abnormal head shape in sagittal synostosis. In this retrospective study, we investigate a new objective measure, point of maximum width (PMW) of the skull from a vertex view, to determine where the head is widest for children with sagittal synostosis as compared with normal controls. Preoperative computed tomography (CT) scans of 27 children with sagittal synostosis and 14 postoperative CT scans at least 8 months after surgery were obtained. Normal CT scans were matched for age, sex, and race. Three-dimensional renderings were standardized for orientation. Mean (SE) PMW in patients with sagittal synostosis was 53% (1%) compared with 57% (1%) in controls (P < 0.001). Mean (SE) CI in patients with sagittal synostosis was 66.8% (0.8%) compared with 83.3% (1.0%) in controls (P < 0.001). The correlation between PMW and CI was weak in both controls (r2 = 0.002, P = 0.824) and uncorrected cases (r2 = 0.083, P = 0.145). After surgical correction, both CI and PMW significantly improved. Mean (SE) PMW in patients after surgical release of sagittal synostosis was 58% (1%) compared with 58% (1%) in controls (P = 0.986). The PMW is not a surrogate for CI but is a novel, valid measure of skull shape, which aids in quantifying the widest region of the skull. It is significantly more anterior in children with sagittal synostosis and exhibits a consistent posterior shift along the cranium after surgery, showing no difference compared with healthy children.

  2. Synostosis of proximal phalangeal bases for loss of distal metacarpal

    PubMed Central

    Jindal, Pankaj

    2016-01-01

    A finger rendered unstable due to loss of metacarpal head can be stabilized by creating a synostosis at the base of the proximal phalanx of the affected finger with the adjacent normal finger. A cortico cancellous graft bridges the two adjacent proximal phalanges at their bases which are temporarily stabilized with an external fixator. The procedure can be done for, recurrence of giant cell tumor of metacarpal and for traumatic metacarpal loss. The procedure and long term follow up of one patient is presented who had giant cell tumor. This option should be considered before offering ray amputation. There is no micro vascular surgery involved, nor is there any donor site morbidity. The graft heals well without any absorption. The affected finger shows excellent function in the long term followup. PMID:27904227

  3. Metopic synostosis: Measuring intracranial volume change following fronto-orbital advancement using three-dimensional photogrammetry.

    PubMed

    Freudlsperger, Christian; Steinmacher, Sahra; Bächli, Heidi; Somlo, Elek; Hoffmann, Jürgen; Engel, Michael

    2015-06-01

    There is still disagreement regarding the intracranial volumes of patients with metopic synostosis compared with healthy patients. This study aimed to compare the intracranial volume of children with metopic synostosis before and after surgery to an age- and sex-matched control cohort using three-dimensional (3D) photogrammetry. Eighteen boys with metopic synostosis were operated on using standardized fronto-orbital advancement. Frontal, posterior and total intracranial volumes were measured exactly 1 day pre-operatively and 10 days post-operatively, using 3D photogrammetry. To establish an age- and sex-matched control group, the 3D photogrammetric data of 634 healthy boys between the ages of 3 and 13 months were analyzed. Mean age at surgery was 9 months (SD 1.7). Prior to surgery, boys with metopic synostosis showed significantly reduced frontal and total intracranial volumes compared with the reference group, but similar posterior volumes. After surgery, frontal and total intracranial volumes did not differ statistically from the control group. As children with metopic synostosis showed significantly smaller frontal and total intracranial volumes compared with an age- and sex-matched control group, corrective surgery should aim to achieve volume expansion. Furthermore, 3D photogrammetry provides a valuable alternative to CT scans in the measurement of intracranial volume in children with metopic synostosis, which significantly reduces the amount of radiation exposure to the growing brain.

  4. [Dynamic study of the distal radioulnar joint with computerized tomography].

    PubMed

    Martelli, A; Zanlungo, M; Egitto, M G; Sibilla, L; Uggetti, C; Zappoli, F

    1996-05-01

    The authors describe a CT technique which allows the dynamic study of the inferior radioulnar joint. The examination consists of 4 CT slices, three of them acquired at the same level-i.e., the radioulnar joint- in the prone, intermediate and supine positions, respectively. The last slice is acquired, with the patient in the prone position, at the base of the styloid process where the triangular fibrocartilage is demonstrated. The distal radioulnar ligaments are not directly visible. Nineteen patients complaining of painfully impaired pronation and supination because of previous trauma (11 Colles fractures, 7 distortions and 1 Galeazzi lesion) were examined with this technique. In all patients, both wrists were studied to obtain normal parameters. The radioulnar joint was evaluated superimposing a draft on the dynamic images, which demonstrated that, in healthy limbs, during movement the ulnar epiphysis is always contained between two parallel lines drawn on the volar and dorsal surfaces of the radial epiphysis, respectively. It was also confirmed that supination is possible up to 110-135 degrees from the support plane. CT demonstrated different causes of impaired movements in the affected joints: in 12 cases some fibrous density tissue was seen at the ulnar epiphysis on the volar aspect and considered to be the evolution of a traumatic hematoma; 6 patients presented dorsal subluxation of the ulna during movement; finally, volar subluxation was detected only in one case. In 6 patients the triangular fibrocartilage was detached; in 1 patient an intraarticular fluid collection was demonstrated. In 3 patients CT detected no abnormalities. The fibrous tissue is responsible for impaired movements and causes the detached triangular fibrocartilage to shrink. The authors believe that this simple CT technique can yield useful pieces of information for accurate surgical planning.

  5. [Sauvé-Kapandji procedure in distal radioulnar joint disorders].

    PubMed

    García-López, M; Pareja-Esteban, J A; Valmaña-de la Sotilla, J M; Jiménez-Alcázar, L C; Martínez-Calvo, M A; Plasencia-Arriba, M A

    2013-01-01

    To evaluate the functional and subjective results of the Sauvé-Kapandji procedure as a treatment for distal radioulnar joint disorders. A retrospective study was conducted on 27 patients treated using the Sauvé-Kapandji technique from January 2001 to March 2012. The aetiología, age, sex, laterality, articular movement, radiographical signs of joint degeneration, and cubitus varus, were analysed. The Mayo Clinic wrist assessment scale and the DASH questionnaire were used for the postoperative evaluation. The mean follow-up was 24 months (6-48 months). The mean age was 47.2 years, with 66.7% females, and 55% the dominant side. At one year after surgery, 16 cases had mild or no pain (59.2%), 8 cases with moderate (29.6%) and 3 cases with severe pain (11.1%). The pronation-supination went from a pre-operative average of 96.8° to 136.4° postoperative, operatorios, which was a significant statistical difference (Wilcoxon test). The radioulnar ratio went from an pre-operative average of +2.6mm to -0.39 mm postoperative. Full functional recovery was observed in 48%. A grip strength of 50.6%, compared to the contralateral wrist was achieved. The Sauvé-Kapandji technique could avoid the complications common in other procedures, such as cubital-carpal migration. Our study agrees with that in the literature with good results as regards the range of joint movement, with an acceptable improvement in pain compared to the previous stage, but it also demonstrates the frequent loss of grip strength and instability of the proximal radio-ulnar joint. Copyright © 2013 SECOT. Published by Elsevier Espana. All rights reserved.

  6. Galeazzi fracture with volar dislocation of the distal radioulnar joint.

    PubMed

    Kim, Suezie; Ward, James P; Rettig, Michael E

    2012-11-01

    Galeazzi fracture dislocations are fractures of the distal one-third of the radial diaphysis with traumatic disruption of the distal radioulnar joint (DRUJ). This injury results in subluxation or dislocation of the ulnar head. We present a case of a Galeazzi fracture with a volar dislocation of the DRUJ. Open reduction of the DRUJ with Kirschner wire fixation in pronation was necessary to reduce the joint and maintain anatomic alignment. Repair of the triangular fibrocartilage complex was also necessary to maintain stability of the DRUJ.

  7. Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome.

    PubMed

    Tandon, Yasmeen K; Rubin, Michael; Kahlifa, Mohamed; Doumit, Gaby; Naffaa, Lena

    2014-07-28

    Craniosynostosis is a pathologic condition which is characterized by the premature fusion of cranial sutures. It may occur alone or in association with other anomalies making up various syndromes. Crouzon syndrome is the most common craniosynostosis syndrome. Bicoronal sutures fusion is most commonly involved in Crouzon syndrome. There have only been a handful of cases of squamosal suture synostosis described in the surgery literature with the few ones described in Crouzon syndrome associated with other types of craniosynostosis. To the best of our knowledge, we are presenting the first case of isolated bilateral squamosal suture synostosis in a patient with Crouzon syndrome in a radiology journal with emphasis on its radiological appearance.

  8. Congenital Deficiency of Distal Ulna and Dislocation of the Radial Head Treated by Single Bone Forearm Procedure

    PubMed Central

    Dutta, Anshuman; Sipani, Arun Kumar; Daolagupu, Arup Kumar

    2014-01-01

    Congenital deficiency of part of distal ulna affecting the distal radio-ulnar joint is a rare disorder. It is even rarer to find the association of proximal radio-ulnar joint dislocation along with distal ulnar deficiency. This type of congenital forearm anomaly is difficult to treat. Conversion to a single bone forearm in the expense of pronation-supination movement is a viable option. By doing so the elbow and wrist can be stabilized; however movement is possible in only one plane. We are describing here a girl of 8 years having proximal radio-ulnar joint dislocation along with deficiency of distal ulna treated by converting into a single bone forearm. PMID:25254127

  9. Palmar reconstruction of the triangular fibrocartilage complex for static instability of the distal radioulnar joint.

    PubMed

    Moritomo, Hisao; Kataoka, Toshiyuki

    2014-09-01

    This study describes a new technique that can be used for reconstructing the triangular fibrocartilage complex to correct the static palmar radius instability of the distal radioulnar joint. In the abovementioned condition, the radius is extremely unstable with respect to the ulna and dislocates palmarly in the resting position. Using a palmar approach, a palmaris longus tendon graft was sutured to the remnant of the disrupted palmar radioulnar and ulnocarpal ligaments and then anchored to the bone tunnel that was created at the ulnar fovea. This technique predominantly reinforces the palmar structure of triangular fibrocartilage complex because the palmar radioulnar ligament is the most critical stabilizer of palmar radius instability.

  10. Craniofacial cephalometric morphology in 8-year-old children with operated sagittal synostosis.

    PubMed

    Heliövaara, A; Vuola, P; Hukki, J

    2015-02-01

    To evaluate cephalometrically craniofacial morphology in children with operated sagittal synostosis and to compare the findings with age- and sex-matched controls. Forty-two children (37 boys) with operated primary sagittal synostosis were compared retrospectively with age- and sex-matched controls from lateral cephalograms taken at a mean age of 8.1 (range 7.0-8.9) years. The operations had been performed between the ages of 2 months and 6.3 years at three Finnish hospitals. The surgical methods included strip craniectomy, pi-plasty and cranial vault expansion. A paired Student's t-test and Pearson's correlation analysis were used in the statistical analyses. Children with operated sagittal synostosis had wide cranial base angles and their mandibles were retrognathic with labially inclined lower incisors relative to the controls. Age at craniosynostosis operation did not correlate with the cranial base angle. This study suggests that children with operated sagittal synostosis have minor distinctive morphological features in the cranial base and mandible. Orthodontic evaluation of craniofacial growth is recommended. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Analysis of the long-term outcomes of nonsyndromic bicoronal synostosis.

    PubMed

    Bastidas, Nicholas; Mackay, Duncan D J; Taylor, Jesse A; Bartlett, Scott P

    2012-10-01

    Isolated nonsyndromic bicoronal synostosis is a relatively rare entity that produces a characteristic turribrachycephalic skull shape. The purpose of this study was to evaluate the long-term outcomes of the isolated nonsyndromic bicoronal synostosis patients treated at the authors' institution. A retrospective chart review of all patients who underwent cranial vault remodeling for nonsyndromic bicoronal synostosis was performed at the Children's Hospital of Philadelphia from 1991 to 2011. Fifteen patients were identified for this study, and information regarding their demographic, perioperative, and postoperative details were analyzed. Four boys and 11 girls were identified for inclusion in this study. The average age at the time of the initial surgery was 9 months, with an average follow-up of 13.4 years. There were no reported complications. Six patients with at least a 10-year follow-up (six of 10 patients) underwent revision for contour improvement in the forehead and temporal regions, and two patients required a repeated fronto-orbital advancement. Four patients underwent subsequent strabismus surgery. No patients were documented to have midface hypoplasia requiring orthognathic surgery. One patient with an associated diagnosis of autism was noted to have significant developmental delay. Isolated nonsyndromic bicoronal synostosis confers a high rate of revisions for contour deformities but is associated with a low risk of complications. Overall, nonsyndromic patients require less secondary fronto-orbital advancement when compared with syndromic patients. In contrast to the syndromic population, there were no instances of midface hypoplasia necessitating surgery. There did not appear to be significant correlation between bicoronal synostosis and developmental abnormalities or delays.

  12. Outcome Assessment after Aptis Distal Radioulnar Joint (DRUJ) Implant Arthroplasty

    PubMed Central

    Kachooei, Amir Reza; Chase, Samantha M; Jupiter, Jesse B

    2014-01-01

    Background: Conventional treatments after complicated injuries of the distal radioulnar joint (DRUJ) such as Darrach and Kapandji-Sauvé procedures have many drawbacks, which may eventually lead to a painful unstable distal ulna. The development of DRUJ prosthesis has significantly evolved over the past years. In this study, we assessed the outcome results of patients after DRUJ implant arthroplasty using the Aptis (Scheker) prosthesis. Methods: We identified 13 patients with 14 prosthesis during the past 10 years. Patients underwent DRUJ arthroplasty due to persistent symptoms of instability, chronic pain, and stiffness. Records and follow-up visits were reviewed to find the final post-operative symptoms, pain, range of motion, and grip strength with a mean follow-up of 12 months (range: 2-25 months). Also, patients were contacted prospectively by phone in order to administer the disabilities of the arm shoulder and hand (DASH), patient rated wrist evaluation (PRWE), and visual analogue scale (VAS), and to interview regarding satisfaction and progress in daily activities. Eleven patients out of 13 could be reached with a median follow-up time of 60 months (range: 2 to 102 months). Results: No patient required removal of the prosthesis. Only two patients underwent secondary surgeries in which both required debridement of the screw tip over the radius. The median DASH score, PRWE score, VAS, and satisfaction were 1.3, 2.5, 0, and 10, respectively. The mean range of flexion, extension, supination, and pronation was 62, 54, 51, and 64, respectively. Conclusions: Distal radioulnar joint injuries are disabling and patients usually undergo one or more salvage surgeries prior to receiving an arthroplasty. The Scheker prosthesis has shown satisfactory results with 100% survival rate in all reports. The constrained design of this prosthesis gives enough stability to prevent painful subluxation. PMID:25386579

  13. Distal radioulnar joint arthroplasty with implants: a systematic review

    PubMed Central

    Calcagni, Maurizio; Giesen, Thomas

    2016-01-01

    A severely painful, dysfunctional, or destroyed distal radio-ulnar joint (DRUJ) can be reconstructed by fusion, interposition of soft tissue, or by arthroplasty using prostheses. The objective of this study was to review the literature on implants and evaluate their effectiveness in terms of pain relief, range of motion and longevity. A search was carried out using protocols and well-defined criteria in PubMed, the Cochrane Library and by screening reference lists. The review was conducted according to PRISMA guidelines. Of the 27 publications reporting on nine different implants, we excluded reports with less than five cases and silastic replacements of the ulna head. Eighteen publications describing a total of five implants were selected for analysis. Nine of the publications were useful for the evaluation of implant longevity. Despite methodological shortcomings in many of the source documents, a summary estimate was possible. It seems that DRUJ implants have good potential to improve function through pain reduction; an improvement was observed in 17 series, although it was significant in only seven series. Instability is not uncommon with ulna head-only implants, but they cause fewer clinical problems and re-interventions than might be expected. The risk of deep infection is small with the available implants. Overall implant survival in papers with at least five years’ follow-up is 95%, with a slightly better longevity of 98% for the constrained implants. Periprosthetic osteolysis/radiolucency is frequently reported. Its causes and consequences are not clarified. Cite this article: Calcagni M, Giesen T. Distal radioulnar joint arthroplasty with implants: a systematic review. EFORT Open Rev 2016;1:191-196. DOI: 10.1302/2058-5241.1.160008. PMID:28461947

  14. Reconstruction of the Distal Oblique Bundle of the Interosseous Membrane: A Technique to Restore Distal Radioulnar Joint Stability.

    PubMed

    Riggenbach, Michael D; Wright, Thomas W; Dell, Paul C

    2015-11-01

    The distal radioulnar ligament reconstruction is a technique that may be used for distal radioulnar joint instability without arthritis and failed nonsurgical management; clinical results demonstrate resolved or improved stability. Recent literature has focused on the distal oblique bundle of the interosseous membrane and its contributions to stability. This article describes a technically simple surgical technique to reconstruct the distal oblique bundle and restore distal radioulnar joint stability.

  15. Lambdoid Synostosis Versus Positional Posterior Plagiocephaly, a Comparison of Skull Base and Shape of Calvarium Using Computed Tomography Imaging.

    PubMed

    Hurmerinta, Kirsti; Kiukkonen, Anu; Hukki, Jyri; Saarikko, Anne; Leikola, Junnu

    2015-09-01

    The differential diagnostics between the common positional posterior plagiocephaly and relatively rare lambdoid synostosis is important due to the differences in their treatment plan and clinical management. However, the clinical criteria for the diagnosis of lambdoid synostosis are not clear since there is a considerable overlap in the features of positional posterior plagiocephaly and unilateral lambdoid synostosis. To systematically evaluate the clinical findings in these 2 patient groups, we quantitatively compared the characteristics of endocranial skull base and ectocranial calvarium in 3D computed tomography, in 9 children (mean age 2.9 years) with unilateral lambdoid synostosis and 9 children with positional posterior plagiocephaly. The groups were sex and age matched. Our results show that the skull bases in the lambdoid synostosis are posteriorly shorter and more twisted than in positional posterior plagiocephaly. Anterior twisting was mild in both skull types. Our study confirmed earlier suggested diagnostic feature: prominent ipsilateral mastoidal bossing downward and laterally in all lambdoid skulls. In positional posterior plagiocephaly the bossing was typically not detected. Interestingly, there was a great variation in the position of the ipsilateral ear and external auditory meatus in both patient groups. Thus, neither antero-posterior nor vertical position of ear is a reliable differential diagnostic feature between lambdoid synostosis or positional posterior plagiocephaly.

  16. Bilateral squamosal suture synostosis: A rare form of isolated craniosynostosis in Crouzon syndrome

    PubMed Central

    Tandon, Yasmeen K; Rubin, Michael; Kahlifa, Mohamed; Doumit, Gaby; Naffaa, Lena

    2014-01-01

    Craniosynostosis is a pathologic condition which is characterized by the premature fusion of cranial sutures. It may occur alone or in association with other anomalies making up various syndromes. Crouzon syndrome is the most common craniosynostosis syndrome. Bicoronal sutures fusion is most commonly involved in Crouzon syndrome. There have only been a handful of cases of squamosal suture synostosis described in the surgery literature with the few ones described in Crouzon syndrome associated with other types of craniosynostosis. To the best of our knowledge, we are presenting the first case of isolated bilateral squamosal suture synostosis in a patient with Crouzon syndrome in a radiology journal with emphasis on its radiological appearance. PMID:25071892

  17. Perinatal features and rate of cesarean section in newborns with non-syndromic sagittal synostosis.

    PubMed

    Heliövaara, Arja; Vuola, P; Hukki, J; Leikola, J

    2016-07-01

    The purpose of this study was to evaluate perinatal features and the rate of cesarean section in children with non-syndromic sagittal synostosis and to compare these with the official statistics. The birth data of 36 consecutive children (25 boys) operated on using cranial vault remodeling because of primary sagittal synostosis were analyzed retrospectively from hospital records. The children were born between 2007 and 2011, and the surgery was performed before the age of 1 year. The official statistics of all Finnish newborns from the year 2010 (n = 61 371) were used as a reference. Chi-square and Fisher's exact tests were used in statistical analyses. The average gestational age of the newborns with sagittal synostosis was 39.8 weeks (reference 39.7 weeks). The average birth weight was 3565.8 g (3540 g) for boys and 3197.2 g (3427 g) for girls, and the average lengths at birth are 51 cm (50.4 cm) and 49.4 cm (49.6 cm), respectively. The average head circumference was 36 cm for both sexes (35.2 and 34.6 cm for reference boys and girls). The mean age of mothers was 30.5 years (30.1 years). The rate of cesarean section was significantly increased 30.5 % (reference 16.6 %), and the rate of suction cup delivery was increased 13.9 % (9 %). In addition, a prolonged or difficult delivery was reported in three childbirths. Newborns with non-syndromic sagittal synostosis appear to be of average birth size and gestational age. The incidences of perinatal complications and cesarean sections were increased with problems occurring in more than half of the childbirths.

  18. Proximal Tibiofibular Synostosis as a Source of Ankle Pain: A Case Report

    PubMed Central

    Leninbabu, Vinayagam; Shenbaga, Needhirajan; Komarasamy, Baskaran; Paul, Ashok

    2006-01-01

    We report the case of a 61-year-old man who presented with ankle pain of unknown etiology. The actual cause for his pain was missed during his two initial visits when only ankle radiographs were taken. During his third visit, a full-length tibia film revealed a proximal tibiofibular synostosis. He successfully underwent a fibular osteotomy with complete symptomatic relief. A literature review of this topic is presented. PMID:16789462

  19. Parental estimation of early psychological development in children operated on for single suture synostosis.

    PubMed

    Knudsen, Elisabet; Maltese, Giovanni; Tarnow, Peter; Tovetjärn, Robert; Kölby, Lars

    2012-09-01

    Impaired psychological development in children with single suture craniosynostosis is often described in the literature. The authors' own experience was that these children appeared to have normal psychological development during their first years of life. The aim of the present study was, therefore, to evaluate if parental estimation would reveal any shortcomings in psychological development. All consecutive patients operated on for non-syndromal single suture synostosis between October 2002 and June 2006 were included (n = 66). A questionnaire was filled out by the parents when the child was 3 years old. The questions concerned development of speech, motor control, personal abilities, and emotional development. The results were compared with randomly selected controls of the same age (n = 180) whose parents answered the same questionnaire. The results showed that children operated on for single suture synostosis did not show any signs of lasting disadvantages due to craniofacial surgery. The children did not in any respect suffer from a hampered psychological development up to 3 years of age. In summary the psychological development of patients operated on for single suture synostosis seems to be normal up to 3 years of age as far as parental estimation can reveal.

  20. Changes in length of the radioulnar ligament and distal oblique bundle after Colles' fracture.

    PubMed

    Omori, Shinsuke; Moritomo, Hisao; Murase, Tsuyoshi; Miyake, Junichi; Kataoka, Toshiyuki; Kawanishi, Yohei; Sugamoto, Kazuomi; Yoshikawa, Hideki

    2013-10-01

    The purpose of this study was to investigate changes in length of the radioulnar ligament and distal oblique bundle (DOB) within the distal interosseous membrane after Colles' fracture and correlate the magnitude of the changes in length with clinical features. This study investigated 10 patients with malunion of a Colles' fracture. In three-dimensional computed tomography, the paths of the four limbs of the radioulnar ligament (superficial and deep, dorsal, and palmar limbs) and DOB were modelled and each path length was computed. Differences in length between the affected and contralateral unaffected side were calculated and correlated with the radiographic parameters of deformity on plain X-ray, subluxation of the DRUJ on CT, and limited range of forearm rotation in the clinical examination. In the malunited radius, the superficial and deep dorsal limbs of the radioulnar ligament were significantly elongated and DOB was significantly shortened compared with the contralateral side. These length changes correlated with radiographic radial shortening, subluxation of the DRUJ, and inversely correlated with limited range of forearm pronation. This study suggests that the dorsal radioulnar ligament would be overstretched and disrupted in Colles' fracture with severely increased radial shortening, producing laxity of the distal radioulnar joint that could negate limitation of pronation.

  1. Incidence and clinical relevance of tibiofibular synostosis in fractures of the ankle which have been treated surgically.

    PubMed

    Droog, R; Verhage, S M; Hoogendoorn, J M

    2015-07-01

    In this retrospective cohort study, we analysed the incidence and functional outcome of a distal tibiofibular synostosis. Patients with an isolated AO type 44-B or C fracture of the ankle who underwent surgical treatment between 1995 and 2007 were invited for clinical and radiological review. The American Orthopaedic Foot and Ankle Society score, the American Academy of Orthopaedic Surgeons score and a visual analogue score for pain were used to assess outcome. A total of 274 patients were available; the mean follow-up was 9.7 years (8 to 18). The extent of any calcification or synostosis at the level of the distal interosseous membrane or syndesmosis on the contemporary radiographs was defined as: no or minor calcifications (group 1), severe calcification (group 2), or complete synostosis (group 3). A total of 222 (81%) patients were in group 1, 37 (14%) in group 2 and 15 (5%) in group 3. There was no significant difference in incidence between AO type 44-B and type 44-C fractures (p = 0.89). Severe calcification or synostosis occurred in 21 patients (19%) in whom a syndesmotic screw was used and in 31 (19%) in whom a syndesmotic screw was not used.(p = 0.70). No significant differences were found between the groups except for a greater reduction in mean dorsiflexion in group 2 (p = 0.004). This is the largest study on distal tibiofibular synostosis, and we found that a synostosis is a frequent complication of surgery for a fracture of the ankle. Although it theoretically impairs the range of movement of the ankle, it did not affect the outcome. Our findings suggest that synostosis of the distal tibiofibular syndesmosis in general does not warrant treatment. ©2015 The British Editorial Society of Bone & Joint Surgery.

  2. IMAGING DIAGNOSIS-RADIOGRAPHY AND COMPUTED TOMOGRAPHY OF RADIOULNAR ISCHEMIC NECROSIS IN A JACK RUSSELL TERRIER.

    PubMed

    Schmid, Lisbeth; Klang, Andrea; Katic, Nikola; Ansón, Agustina; Gumpenberger, Michaela; Kneissl, Sibylle

    2016-11-02

    A 7-year-old Jack Russell Terrier with a history of minor trauma was presented for lameness of the left forelimb. Radiography and computed tomography demonstrated a localized radioulnar osteolytic lesion with cortical bone loss and enthesiophytes. Based on results of diagnostic imaging and histopathological examination, the final diagnosis was radioulnar ischemic necrosis (RUIN), complicated by pathologic fracture. A rare disorder of unknown etiology, RUIN may be secondary to tearing of the interosseous ligament and potential ischemia. It should be differentiated from neoplastic or fungal disease. To the authors´ knowledge, this is the first canine case report describing RUIN. © 2016 American College of Veterinary Radiology.

  3. The Sauve-Kapandji procedure for reconstruction of the rheumatoid distal radioulnar joint.

    PubMed

    Vincent, K A; Szabo, R M; Agee, J M

    1993-11-01

    Our experience with the Sauve-Kapandji procedure for reconstruction of the rheumatoid distal radioulnar joint is reported. Twenty-one wrists in 17 patients were followed for an average of 39 months postoperatively. Average range of motion at follow-up evaluation was pronation to 78 degrees and supination to 86 degrees. X-ray films demonstrated that significant ulnarward and palmarward translocation of the carpus was prevented. The Sauve-Kapandji procedure provides a stable ulnar side support in the rheumatoid wrist with distal radioulnar degeneration.

  4. A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?

    PubMed

    Roberts, Jessica; Torres-Martinez, Wilfredo; Farrow, Emily; Stevens, Abby; Delk, Paula; White, Kenneth E; Weaver, David D

    2014-02-01

    In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown.

  5. Chronic desmitis and enthesiophytosis of the radio-ulnar interosseous ligament in a dog

    PubMed Central

    Deffontaines, Jean-Baptiste; Lussier, Bertrand; Bolliger, Christian; Bédard, Agathe; Doré, Monique; Blevins, William E.

    2016-01-01

    A 10-year-old golden retriever dog was presented for chronic right forelimb lameness associated with a painful swelling at the lateral aspect of the proximal ulna. Proximal ulnar ostectomy and stabilization resulted in a good clinical outcome. The proposed diagnosis is chronic desmitis and enthesiophytosis of the radio-ulnar interosseous ligament. PMID:27152034

  6. [Kapandji-Sauvé procedure with distal radioulnar fusion and segmental resection of the ulna].

    PubMed

    Haferkamp, H

    2012-02-01

    The Kapandji-Sauvé procedure aims at improvement of rotation in the distal radioulnar joint and reduction of pain. Cases of ulnar impaction syndrome can also be corrected during the same procedure. The most important indication is painful und restricted forearm rotation after fracture of the distal radius combined with obsolete dislocation or destruction of the distal radioulnar joint. It is a salvage procedure and is contraindicated when reconstruction of the radioulnar joint or shortening of the ulna is possible. Further contraindications are rheumatic arthritis and osteoporosis. The Kapandji-Sauvé procedure creates a new distal rotatory joint due to distal radioulnar fusion and segmental resection of the distal ulna. Forearm cast including the wrist for 3-4 weeks. Phyisiotherapy and intensive exercises of the fingers on postoperative day 1. After removing the cast, careful rotation exercises are possible. In 75 patients, the Kapandji-Sauvé procedure was performed between 1990 and 2003. Failure was observed in one patient with a bony regeneration between the resected ulnar segment. In 3 cases, a nonunion of the radioulnar joint was found. After revision with bone grafting, bony consolidation of the joint was identified in all cases. In 2 cases, there were problems with the proximal ulnar stump, whereby this was corrected in one case by resection of a ball-type callus. In the other case, painful ulna-snapping was reduced by shortening of the ulna. In earlier follow-up with 45 patients and later long-turn follow-up, ranging from 3-12 years, not only were significant improvement of forearm rotation and reduction of pain observed, but also good patient satisfaction was found.

  7. Is the distal radioulnar variance useful for identification of radial head prosthesis overlengthening? A cadaver study.

    PubMed

    Wegmann, Kilian; Zhang, Wei; Strauss, Volker; Ries, Christian; Müller, Lars P; Burkhart, Klaus J

    2016-03-21

    Overlengthening by radial head prosthetic replacement leads to insufficient functionality and increased capitellar wear. It has been shown that in monopolar prostheses, the radial overlengthening by an overstuffed prosthesis leads to significant differences in the distal radioulnar variance at the wrist. This study evaluated ipsilateral ulnar variance as a predictor for overlengthening after implantation of a multipolar prosthesis. The radial heads of seven fresh frozen upper extremities were resected and a multipolar radial head prosthesis was implanted. Thereafter, the native radioulnar variance at the wrist was documented via fluoroscopy. The alignment of the distal radioulnar joint in neutral, pronated and supinated rotational positions of the forearm was recorded fluoroscopically, and digital image analysis was performed regarding radioulnar shifting. Statistical analysis of the difference between native height and the manipulated states did not show consistent significant differences with stepwise overlengthening of +1.5, +3, +4.5 and +6 mm and with respect to rotational position of the forearm (p > 0.05). Interclass correlation coefficients showed excellent interobserver reliability (ICC 96%), as did tests for intraobserver reliability (ICC 98-99%). No consistent influence of overlengthening on the alignment of the radius and ulna at the distal radioulnar joint was found after sequential overlengthening with a multipolar prosthesis. Maybe the ligamentous structures of the forearm prevent significant longitudinal dislocation of the radius, as the multipolar prosthesis gives way by at the radiocapitellar joint. According to the data of the present study, the ipsilateral wrist is not useful in diagnosing overlengthening of the radial column in multipolar prosthetic replacement of the radial head-in contrast to the reported results with monopolar prostheses.

  8. Preliminary Experience with a New Total Distal Radioulnar Joint Replacement

    PubMed Central

    Ewald, Timothy J.; Skeete, Kshamata; Moran, Steven L.

    2012-01-01

    This study reports the intermediate-term results of four patients from a series eight patients who have had an insertion of a new complete distal radioulnar joint (DRUJ) prosthesis. A retrospective review was performed for all patients who underwent DRUJ joint replacement with the STABILITY Sigmoid Notch Total DRUJ System between the years of 2003 and 2008. To be included in this report, all patients had to have more than 24 months of follow-up and hand examination by the senior author. From the eight patients with this procedure, four patients met the inclusion criteria. These included one patient with painful posttraumatic arthritis, two patients with failed hemiarthroplasty, and one patient with a failed Sauvé–Kapandji procedure. Mean age at the time of surgery was 42.5 years (range: 35 to 51 years) and mean follow-up was 46 months (range: 36 to 66 months). Preoperative and postoperative assessment included range of motion, grip strength, visual analog pain scale, patient satisfaction, and radiographic evaluation. There was a successful replacement of the DRUJ in all four patients. Final range of motion showed mean pronation of 80 degrees (range: 60 to 90 degrees) and mean supination of 64 degrees (range: 45 to 90 degrees). Final grip strength on the operated extremity was 25.5 kg and averaged 73% of contralateral side. This was an improvement from preoperative grip strength of 14.5 kg visual analog pain scale decreased from 8 to 2.5 following surgery (scale: 1 to 10). Patient satisfaction was 100%. One patient returned to manual labor, one patient returned to office work, and two patients remained off work. Postoperative radiographs depict appropriate alignment of the DRUJ, and there have been no cases of subluxation or dislocation. Implant survival has been 100%. Total DRUJ joint replacement with sigmoid notch resurfacing and distal ulna replacement is an alternative to ulnar head resection in cases of DRUJ arthritis. Total DRUJ arthroplasty with this

  9. [Clinico-radiological study of the skull deformation in the plagiocephaly without synostosis].

    PubMed

    Captier, G; Leboucq, N; Bigorre, M; Canovas, F; Bonnel, F; Bonnafé, A; Montoya, P

    2003-03-01

    The aim of this study was to analyze the mechanism of the skull deformation observed in frontal and occipital plagiocephaly without synostosis. From 1987 to 2001, 96 plagiocephalies without synostosis, 72 males and 24 females, were examined. There were 72 Frontal Plagiocephalies (FP) and 24 Occipital Plagiocephalies (OP). The clinical examination of the neck muscles was performed to find out a torticolis with or without retraction. All patients underwent a 3D CT scan of the skull to exclude a craniostenosis. Cephalic Index (CI) was also calculated. The FP had a torticollis in 89.3% of cases associated with a muscle retraction (54.8%), a tonus asymmetry (16.6%), or in association (28.6%). The skull had a parallelepiped shape and the greater axis was oblique. The CI was 0.85. The OP had a torticollis in 50% of case associated with a retraction (28.6%), a tonus asymmetry (57.1%), or the association (14.3%). The skull had a square shape with an occipital flat and the CI was 0.95. The FP and OP are two deformations whose mechanism is different. The FP corresponds to a three plans skull asymmetry secondary to muscle traction on the base of the skull, and the OP corresponds to a posterior localized asymmetry of the skull secondary to compression. The traction and/or compression deformation start in utero or in the newborn period and the supine position is an aggravating positional factor.

  10. The utilization of a suture bridge construct for tibiofibular instability during transtibial amputation without distal bridge synostosis creation.

    PubMed

    Lewandowski, Louis R; Tintle, Scott M; D'Alleyrand, Jean-Claude G; Potter, Benjamin K

    2013-10-01

    Symptomatic distal tibiofibular instability is a known complication of trauma-related transtibial amputations. Overt proximal tibiofibular dislocations, which are easily recognized on routine radiographs, may occur concurrently with the traumatic injury or amputation. More commonly, however, the proximal tibiofibular joint remains structurally intact in the presence of distal instability due to the loss of the distal syndesmotic structures and damage to the interosseous membrane, resulting in fibular angulation and distal tibiofibular diastasis. Some authors have espoused treating this instability with the creation of a distal tibiofibular bridge synostosis (the so-called Ertl procedure or modifications there of) to prevent potentially painful discordant motion and to minimize the prominence of the residual distal fibula. Recent studies, however, have suggested an increase in complication and reoperation rates in transtibial amputations that received a bridge synostosis compared with standard transtibial amputations. Additionally, although there are several described techniques for bridge synostosis creation, most are dependent on having sufficient remaining fibula to construct the bone bridge without unnecessary shortening of the tibia; however, sufficient residual fibula is not always available after traumatic and trauma-related amputations. We propose a technique utilizing a suture bridge to restore tibiofibular stability when performing transtibial amputations in patients with proximal tibiofibular dislocations or distal diastasis, avoiding the potential need for a distal bridge synostosis.

  11. Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?

    PubMed

    Antich, J; Iriondo, M; Lizarraga, I; Manzanares, R; Cusi, V

    1993-01-01

    We report a newborn with radiohumeral synostosis, femoral bowing, anal atresia, a prominent nose (pear shaped nose), slender ribs, long tapering fingers with distal camptodactyly, genital hypoplasia and a neonatal humeral fracture. Among the possible differential diagnoses a variant example of Antley-Bixler syndrome is considered to be the most likely final diagnosis.

  12. Delayed distal radio-ulnar joint instability after Galeazzi type fracture fixation in a child.

    PubMed

    Jettoo, P; de Kiewiet, Gp

    2010-10-15

    We report a rare case of delayed distal radio-ulnar joint instability with malunion of a Galeazzi-type radius fracture in a 10- year-old boy. He underwent operative intervention with flexible intramedullary nailing of the radius. He had careful clinical and intra-operative evaluation under image intensifier, and regular clinical and radiological assessments subsequently in clinic, and his distal radio-ulnar joint (DRUJ) was stable. He nonetheless developed DRUJ instability with malunion of radial midshaft fracture at 4 months. Corrective osteotomy for forearm fracture malunion is an uncommon procedure in children. He underwent a corrective radial osteotomy at the site of malunion, held with a Pennig external fixator, with reconstruction of the DRUJ subluxation. He made a good recovery with full restoration of wrist and forearm function, which was maintained at 17 months.

  13. Ulna-Shortening Osteotomy: Outcome and Repercussion of the Distal Radioulnar Joint Osteoarthritis.

    PubMed

    de Runz, Antoine; Pauchard, Nicolas; Sorin, Thomas; Dap, François; Dautel, Gilles

    2016-01-01

    Ulnocarpal impaction syndrome occurs mostly in patients with positive ulnar variance. Ulnar-shortening osteotomy is a commonly used method to correct it, but degenerative changes may appear in the distal radioulnar joint. The authors evaluated outcome after ulnar-shortening osteotomy, particularly the impact of distal radioulnar joint osteoarthritis. A 10-year study was performed of patients who underwent ulnar-shortening osteotomy. Forty-six patients were available for clinical examination and radiography. Twenty-nine wrists showed worsening or new osteoarthritis. A difference of preulnar variance and resection was noted: 4.64 mm and 4.48 mm, respectively, in the osteoarthritis group versus 3.50 mm and 3.38 mm in the group without osteoarthitis. Comparison of patients with osteoarthritis revealed a significant limitation of range of motion in flexion-extension (p = 0.009) and pronosupination (p = 0.028): 102 degrees and 138 degrees, respectively, in the osteroarthritis group versus 124 degrees and 155 degreees in the group without osterarthritis. The type of distal radioulnar joint differed significantly (p = 0.038), with a predominance of type I in the osterarthritis group and type II in the group without osterarthritis. Functional outcome was significantly worse in the osterarthritis group versus the group without osteoarthritis concerning the Patient-Rated Wrist Evaluation score (39.07 versus 22.59, p = 0.031), the Quick Disabilities of the Arm, Shoulder, and Hand score (27.38 versus 19.59, p = 0.017), and the modified Gartland-Werley score (76.72 versus 85.14, p = 0.027). Ulnar-shortening osteotomy modifies the congruence of the distal radioulnar joint, and the type I joint may be at increased risk of arthrosis. Osteoarthritis has a clinical impact, and the amount of ulnar shortening should be limited to what is needed to avoid altering the functional outcome. Therapeutic, III.

  14. Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

    PubMed

    Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria

    2015-03-01

    We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to detect any additional mutations. There are several reports of achondroplasia with associated craniosynostosis, but no other cases of scaphocephaly in children with achondroplasia have been described. Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. Our report suggests that the association of isolated scaphocephaly and other craniosynostoses with achondroplasia may be under recognized.

  15. Transtibial Amputation Outcomes Study (TAOS): Comparing Transtibial Amputation With and Without a Tibiofibular Synostosis (Ertl) Procedure.

    PubMed

    Bosse, Michael J; Morshed, Saam; Reider, Lisa; Ertl, William; Toledano, James; Firoozabadi, Reeza; Seymour, Rachel B; Carroll, Eben; Scharfstein, Daniel O; Steverson, Barbara; MacKenzie, Ellen J

    2017-04-01

    The optimal technique for a transtibial amputation in a young, active, and healthy patient is controversial. Proponents of the Ertl procedure (in which the cut ends of the tibia and fibula are joined with a bone bridge synostosis) argue that the residual limb is more stable which confers better prosthetic fit and improved function especially among high-performing individuals. At the same time, the Ertl procedure is associated with longer operative and healing time and may be associated with a higher complication rate compared with the standard Burgess procedure. The TAOS is a prospective, multicenter randomized trial comparing 18-month outcomes after transtibial amputation using the Ertl versus Burgess approach among adults aged 18 to 60. The primary outcomes include surgical treatment for a complication and patient-reported function. Secondary outcomes include physical impairment, pain, and treatment cost.

  16. The Sauvé-Kapandji procedure for osteoarthritis of the distal radioulnar joint.

    PubMed

    Minami, A; Suzuki, K; Suenaga, N; Ishikawa, J

    1995-07-01

    The Sauvé-Kapandji procedure has been performed in 15 patients with primary and secondary osteoarthritis of the distal radioulnar joint. The average age of the patients was 45 years (range, 31-63 years). There were 12 men and 3 women. The follow-up period averaged 2 years and 11 months. Postoperative pain relief was good in all wrists. The preoperative range of motion of the wrist joint averaged 50 degrees extension and 44 degrees flexion. Forearm motion averaged 66 degrees pronation and 64 degrees supination. Postoperatively, the range of motion improved to 55 degrees extension and 51 degrees flexion at the wrist and forearm motion improved to 78 degrees pronation and 82 degrees supination. Although all wrists also showed an increased grip strength and improved range of motion over preoperative values, these did not have statistical significance. Postoperative x-ray evaluation showed an unstable proximal stump and radioulnar convergence in 12 wrists. Our clinical and x-ray film findings suggest that the Sauvé-Kapandji procedure is a satisfactory procedure for patients with osteoarthritis of the distal radioulnar joint.

  17. [Lesions of the distal radio-ulnar joint associated with isolated fractures of the radial shaft].

    PubMed

    Hattoma, N; Rafai, M; Zahar, A; Largab, A; Trafeh, M

    2002-12-01

    The authors have performed a retrospective study of 49 Galeazzi fractures treated between 1990 and 1998. This lesion is considered rare because it is often misdiagnosed as an isolated fracture of the radius. The mean age of the patients was 31 years. There was a male predominance with a sex ratio of 4/1. Road traffic accidents were the main etiology (45%). Galeazzi fracture type III in Mansat's classification represented 53%, followed by type II (33%), type I (8%) and equivalents of Galeazzi fracture (6%). The treatment was surgical in all cases. The radial fracture was internally fixed with a plate. Reduction of the distal radio-ulnar instability, achieved by manipulation, was maintained with radio-ulnar pin fixation in 53% and with plaster cast immobilization 45%. The results, evaluated according to Mikic's criteria were excellent in 87%. The prognosis of Galeazzi's fracture depends mainly on the initial treatment of the lesions of the distal radio-ulnar joint, which require for their diagnosis a meticulous clinical evaluation and a good radiological analysis.

  18. Clinical outcome of the modified pi-plasty procedure for sagittal synostosis.

    PubMed

    Guimarães-Ferreira, J; Gewalli, F; David, L; Olsson, R; Friede, H; Lauritzen, C G

    2001-05-01

    The aim of the study was to evaluate the modified pi-plasty procedure for the treatment of sagittal synostosis, assessing the issues of safety, complications, morphological outcome, and degree of parental satisfaction. A retrospective evaluation of 110 patients with nonsyndromal single suture sagittal synostosis operated on with the modified pi-plasty procedure was undertaken. Cephalometric radiographs were obtained preoperatively and postoperatively at ages 3 and 5 years in three standardized projections. The Cephalic Index and the Axial Width Ratio were determined and used as objective outcome measures. An evaluation of the radiographic digital markings was carried out using a Beaten Copper Score. A parental questionnaire was used to obtain a subjective esthetical outcome assessment. The patient population consisted of 76% boys and 24% girls with a 20% incidence of a positive familial history of craniosynostosis. The mean age at surgery was 7.73 months. Morbidity from the procedure was minimal and there were no mortalities. The Cephalic Index changed from a mean preoperative value of 65% to a postoperative mean value of 72% (P = 0.00004). The mean Axial Width Ratio changed from a preoperative 80% to 72% at the 3-year evaluation (P = 0.00029). The Beaten Copper score changed from a mean preoperative value of 2.35 to 5.42 postoperatively at 3 years (P = 0.00001). The response rate to the questionnaire was 86%, and there were significant postoperative improvements in all studied aspects of the skull shape. The modified pi-plasty is a safe technique, and it induces significant objective changes in skull morphology toward normality. It also yields a high degree of parental satisfaction with regard to aesthetic outcome, as evaluated by a written questionnaire.

  19. Miscellaneous conditions about the elbow in athletes.

    PubMed

    McFarland, Edward G; Gill, Harpreet S; Laporte, Dawn M; Streiff, Michael

    2004-10-01

    This article reviews some of the conditions about the elbow in athletes or active individuals. The conditions discussed are synovial plica of elbow, radiocapitellar arthritis, congenital dislocation of the radial head, radio-ulnar synostosis, hemophilia and rheumatoid arthritis. In the past, people who had these conditions were instructed to avoid athletic activities; however, they are now being counseled to remain active and to try to exercise on a regular basis.

  20. Rapidly Polymerizing Injectable Click Hydrogel Therapy to Delay Bone Growth in a Murine Re-synostosis Model

    PubMed Central

    Hermann, Christopher D.; Wilson, David S.; Lawrence, Kelsey A.; Ning, Xinghai; Olivares-Navarrete, Rene; Williams, Joseph K.; Guldberg, Robert E.; Murthy, Niren; Schwartz, Zvi; Boyan, Barbara D.

    2014-01-01

    Craniosynostosis is the premature fusion of cranial sutures, which can result in progressive cranial deformations, increased intracranial pressure, and restricted brain growth. Most cases of craniosynostosis require surgical reconstruction of the cranial vault with the goal of increasing the intracranial volume and correcting the craniofacial deformities. However, patients often experience rapid post-operative bone re-growth, known as re-synostosis, which necessitates additional surgical intervention. Bone morphogenic protein (BMP) inhibitors have tremendous potential to treat re-synostosis, but the realization of a clinically viable inhibitor-based therapeutic requires the development of a delivery vehicle that can localize the release to the site of administration. Here, we present an in situ rapidly crosslinking injectable hydrogel that has the properties necessary to encapsulate co-administered proteins and demonstrate that the delivery of rmGremlin1 via our hydrogel system delays bone re-growth in a weanling mouse model of re-synostosis. Our hydrogel is composed of two mutually reactive poly(ethylene glycol) macromolecules, which when mixed crosslink via a bio-orthogonal Cu free click reaction. Hydrogels containing Gremlin caused a dose-dependent inhibition of bone regrowth. In addition to craniofacial applications, our injectable click hydrogel has the potential to provide customizable protein, small molecule, and cell delivery to any site accessible via needle or catheter. PMID:25176067

  1. Sauvé-Kapandji and reverse Sauvé-Kapandji procedures for treating chronic longitudinal radioulnar dissociation with capitellum fracture.

    PubMed

    Hernández-Cortés, Pedro; Gómez-Sánchez, Rafael; Pajares-López, Miguel; O'Valle-Ravassa, Francisco

    2014-01-01

    Almost all reported cases of longitudinal radioulnar dissociation have involved fracture of the radial head, rupture of the interosseous membrane, and disruption of the distal radioulnar joint, although unusual patterns of Essex-Lopresti injury have also been described. To our knowledge, this is the first report of a chronic Essex-Lopresti variant including fracture of the capitellum. A displaced capitellum fracture must alert to the possibility of longitudinal radioulnar dissociation, even without concomitant radial head fracture or symptoms at the forearm and ulnar wrist. Successful mid-term results can be achieved by treating malunion of humeral condyle and proximal migration of the radius with simultaneous Sauvé-Kapandji procedure at the wrist and reverse Sauvé-Kapandji at the elbow.

  2. 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 ...

  3. 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 ...

  4. Proximal radioulnar translocation associated with elbow dislocation and radial neck fracture in child: a case report and review of literature.

    PubMed

    Yoon, Hong-Kee; Seo, Gi-Won

    2013-10-01

    Proximal radioulnar translocation with radial neck fracture and elbow dislocation is extremely rare. We report a case of a 5-year-old boy who was presented with elbow dislocation, and proximal radioulnar translocation was diagnosed a day after the injury. Mini-open technique was used to reduce the translocation and radial neck fracture. The patient finally regained full range of elbow motion and forearm rotation. This case had clinical importance in that the reverse instability of the elbow was observed compared with the previous reports.

  5. [The Sauvé-Kapandji operation in the treatment of traumatic disorder of the distal radioulnar joint].

    PubMed

    Fousek, J; Klézl, Z

    2000-08-01

    The authors describe in a group of 22 patients their experience with Sauvé-Kapandji's operation in posttraumatic damage of the distal radioulnar joint. They analyze the causes of affection of the distal radioulnar joint, discuss the functional anatomy of this joint and describe the technique of operation. In the discussion they deal with possible complications and analyze in detail their results. They suggest a pattern of evaluation of the results of surgery based on objective and subjective findings. In the conclusion they mention the satisfactory results of this operation if the correct surgical technique is used and careful indication of the operation is made.

  6. Selection of Tendon Grafts for Distal Radioulnar Ligament Reconstruction and Report of a Modified Technique

    PubMed Central

    Jang, Eugene; Dy, Christopher J.

    2014-01-01

    Purpose To investigate the graft length necessary to complete a distal radioulnar ligament reconstruction and assess the suitability of several tendon graft sources. Methods We measured the graft length needed to complete the distal radioulnar ligament reconstruction in 7 fresh-frozen cadaver specimens. The pure tendon lengths of 7 tendon graft sources were measured: palmaris longus, extensor indicis proprius, slips of extensor digiti minimi and abductor pollicis longus, and portions of flexor carpi ulnaris, flexor carpi radialis, and extensor carpi ulnaris. A modified technique which allows for a shorter length of graft is also described, and the suitability of each graft source for this technique was assessed. Results The mean graft length needed to complete the original and modified reconstructions were 138 mm and 89 mm, respectively. The average length of the tendon graft when measured as pure tendon were: palmaris longus (127 mm), slip of extensor digiti minimi (112 mm), extensor indicis proprius (100 mm), partial flexor carpi radialis (87 mm), slip of abductor pollicis longus (69 mm), partial flexor carpi ulnaris (67 mm), and partial extensor carpi ulnaris (67 mm). The palmaris longus was too short for the original technique in the majority of specimens but was sufficient to complete the modified technique in every specimen that had a palmaris longus. Six specimens also had an extensor indicis proprius of suitable length for the modified technique. Discussion The length of donor graft required for the modified reconstruction was significantly less than that needed for the original reconstruction. Three specimens had no donor tendons sufficiently long to complete the original technique if a pure tendon graft were used, whereas the modified technique could be completed in all specimens. Clinical Relevance Many tendon graft sources in the upper extremity are of insufficient length to complete the distal radioulnar ligament reconstruction as described. A modified

  7. Functional anatomy of the distal radioulnar joint in health and disease.

    PubMed

    Lees, V C

    2013-04-01

    The distal radioulnar joint (DRUJ) is critical to the function of the forearm as a mechanical unit. This paper is concerned with the concepts and observations that have changed understanding of the function of the DRUJ, notably with respect to the biomechanics of this joint. The DRUJ has been shown to be important in acting to distribute load and removal of the ulna head leads to the biomechanical equivalent of a one-bone forearm. The soft tissues with topographical relations to the distal forearm and DRUJ have also been investigated in our experimental series with findings including the description of a clinical disorder termed subluxation-related ulna neuropathy syndrome.

  8. Functional anatomy of the distal radioulnar joint in health and disease

    PubMed Central

    2013-01-01

    The distal radioulnar joint (DRUJ) is critical to the function of the forearm as a mechanical unit. This paper is concerned with the concepts and observations that have changed understanding of the function of the DRUJ, notably with respect to the biomechanics of this joint. The DRUJ has been shown to be important in acting to distribute load and removal of the ulna head leads to the biomechanical equivalent of a one-bone forearm. The soft tissues with topographical relations to the distal forearm and DRUJ have also been investigated in our experimental series with findings including the description of a clinical disorder termed subluxation-related ulna neuropathy syndrome. PMID:23827285

  9. Bilateral coronal and sagittal synostosis in X-linked hypophosphatemic rickets: a case report.

    PubMed

    Freudlsperger, Christian; Hoffmann, Juergen; Castrillon-Oberndorfer, Gregor; Engel, Michael

    2013-12-01

    Craniosynostosis can be gene-linked, or caused by metabolic diseases, such as rickets, which results from a deficiency or impaired metabolism of vitamin D, magnesium, phosphorus or calcium leading to hypomineralization of the bone. X-linked dominant hypophosphatemic rickets (XLHR) is the most prevalent genetic type of hypophosphatemic rickets and is caused by germ line mutations in the PHEX-gene. In XLHR, only few case reports of craniosynostosis were described. Here, we present a clinical report of an 18 months old child with XLHR and bilateral coronal and sagittal synostosis who was treated by subtotal cranial vault remodelling with fronto-orbital advancement and right-angled Z-osteotomies. As a consequence of the child's diminished bone regeneration capacity, surgery that is performed after the age of 1 year requires more extensive craniectomy, multiple osteotomies and rigid fixation for calvarial vault remodelling to prevent extensive bone defects. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  10. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

    PubMed Central

    Farrington-Rock, Claire; Kirilova, Veneta; Dillard-Telm, Lisa; Borowsky, Alexander D.; Chalk, Sara; Rock, Matthew J.; Cohn, Daniel H.; Krakow, Deborah

    2009-01-01

    Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by short stature, and fusions of the vertebrae and carpal and tarsal bones. SCT results from homozygosity or compound heterozygosity for nonsense mutations in FLNB. FLNB encodes filamin B, a multifunctional cytoplasmic protein that plays a critical role in skeletal development. Protein extracts derived from cells of SCT patients with nonsense mutations in FLNB did not contain filamin B, demonstrating that SCT results from absence of filamin B. To understand the role of filamin B in skeletal development, an Flnb−/− mouse model was generated. The Flnb−/− mice were phenotypically similar to individuals with SCT as they exhibited short stature and similar skeletal abnormalities. Newborn Flnb−/− mice had fusions between the neural arches of the vertebrae in the cervical and thoracic spine. At postnatal day 60, the vertebral fusions were more widespread and involved the vertebral bodies as well as the neural arches. In addition, fusions were seen in sternum and carpal bones. Analysis of the Flnb−/− mice phenotype showed that an absence of filamin B causes progressive vertebral fusions, which is contrary to the previous hypothesis that SCT results from failure of normal spinal segmentation. These findings suggest that spinal segmentation can occur normally in the absence of filamin B, but the protein is required for maintenance of intervertebral, carpal and sternal joints, and the joint fusion process commences antenatally. PMID:17635842

  11. Distal Radioulnar Joint Reaction Force Following Ulnar Shortening: Diaphyseal Osteotomy Versus Wafer Resection.

    PubMed

    Canham, Colin D; Schreck, Michael J; Maqsoodi, Noorullah; Messing, Susan; Olles, Mark; Elfar, John C

    2015-11-01

    To compare how ulnar diaphyseal shortening and wafer resection affect distal radioulnar joint (DRUJ) joint reaction force (JRF) using a nondestructive method of measurement. Our hypothesis was that ulnar shortening osteotomy would increase DRUJ JRF more than wafer resection. Eight fresh-frozen human cadaveric upper limbs were obtained. Under fluoroscopic guidance, a threaded pin was inserted into the lateral radius orthogonal to the DRUJ and a second pin was placed in the medial ulna coaxial to the radial pin. Each limb was mounted onto a mechanical tensile testing machine and a distracting force was applied across the DRUJ while force and displacement were simultaneously measured. Data sets were entered into a computer and a polynomial was generated and solved to determine the JRF. This process was repeated after ulnar diaphyseal osteotomy, ulnar re-lengthening, and ulnar wafer resection. The JRF was compared among the 4 conditions. Average baseline DRUJ JRF for the 8 arms increased significantly after diaphyseal ulnar shortening osteotomy (7.2 vs 10.3 N). Average JRF after re-lengthening the ulna and wafer resection was 6.9 and 6.7 N, respectively. There were no differences in JRF among baseline, re-lengthened, and wafer resection conditions. Distal radioulnar joint JRF increased significantly after ulnar diaphyseal shortening osteotomy and did not increase after ulnar wafer resection. Diaphyseal ulnar shortening osteotomy increases DRUJ JRF, which may lead to DRUJ arthrosis. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  12. [Late outcome of Kapandji-Sauvé distal radio-ulnar arthrodesis].

    PubMed

    Welk, E; Martini, A K

    1998-11-01

    In a retrospective study the outcome of patients treated by the Kapandji-Sauvé procedure was evaluated. In the period from 1989 to 1993, 18 patients were operated. The arthrodesis of the distal radioulnar joint was performed by a dorsoulnar incision using one screw. A 2 cm long segment of the ulna was resected. Indications for Kapandji-Sauvé procedures were in 12 cases deformities subsequent to wrist fractures, in three cases osteoarthrosis of the distal radioulnar joint, in two cases Madelung's deformity and in one case Kienböck's disease. The mean follow-up time was 5.1 years (range 3 to 7 years). There was one case of reossification, which required reoperation. No other complications were seen. An excellent result was obtained in seven patients, a good result in nine patients, one patient showed satisfactory and one poor results. Grip strength was normal in six cases, reduced up to 20% in seven cases and reduced up to 50% in five cases. 13 patients returned to their previous occupation. 12 patients showed a range of pronation-supination of more than 150 degrees. There was no correlation between X-ray findings and clinical outcome in patients.

  13. The Sauvé-Kapandji procedure for posttraumatic disorders of the distal radioulnar joint.

    PubMed

    Jacobsen, Tine Weis; Leicht, Pemille

    2004-06-01

    The authors report their experience with the Sauvé-Kapandji procedure for the management of posttraumatic disorders of the distal radioulnar joint in 20 patients. The mean age was 39 years (range, 19 to 62 years), the mean duration of follow-up was 76 months (range, 60-97 months) and the mean time interval between initial injury and the Sauvé-Kapandji procedure was 24 months (range, 6-120 months). Postoperatively all patients experienced relief of pain. Rotation of the forearm increased to near normal values. The patients scored an average of 77 points on the Modified Mayo Wrist Score (range, 65-95 points). Three patients had an excellent result, six had a good result, seven had a fair result and one had a poor result. There were no major complications. Fifteen of seventeen employed patients had returned to work. Eighteen of nineteen patients were very satisfied or satisfied by the result of surgery. The procedure performed satisfactorily in addressing posttraumatic problems of the distal radioulnar joint, but must still be considered a salvage procedure.

  14. Three-dimensional in vivo kinematics of the distal radioulnar joint in malunited distal radius fractures.

    PubMed

    Moore, Douglas C; Hogan, Kathleen A; Crisco, Joseph J; Akelman, Edward; Dasilva, Manuel F; Weiss, Arnold-Peter C

    2002-03-01

    How malunion of the distal radius affects the kinematics of the distal radioulnar joint in vivo was evaluated. A novel computed tomography image-based technique was used to quantify radioulnar motion in both wrists of 9 patients who had unilateral malunited distal radius fractures. In the injured wrists dorsal angulation averaged 21 degrees +/- 6 degrees, radial inclination averaged 18 degrees +/- 5 degrees, and radial shortening averaged 21 +/- 3 mm. Clinically, the average range of motion of the injured wrists was 75 degrees +/- 25 degrees pronation and 73 degrees +/- 23 degrees supination. Kinematics of the radius during pronation and supination in the malunited forearms was indistinguishable from that in the uninjured forearms. In both the axis of rotation of the radius passed through the center of the ulnar head, although it shifted slightly ulnar and volar in supination and radial and dorsal during pronation. In contrast to previous in vitro biomechanical findings, there was no dorsovolar radial translation at the extremes of pronation or supination and no translation of the radius along the rotation axis. Soft tissues may play a larger role in limiting function than previously appreciated, and treatment may require correction of altered soft tissue structures as well as any abnormal bone anatomy.

  15. Photography of the histological and radiological analysis of the ligaments of the distal radioulnar joint.

    PubMed

    Clayton, Gemma

    2013-06-01

    This project was undertaken as part of the PhD research project of Paul Malone, Pricipal Investigator, Covance plc, Harrogate. Mr Malone approached the photography department for involvement in the study with the aim of settling the current debate on the anatomical and histological features of the distal radioulnar ligaments by capturing the anatomy photographically throughout the process of dissection via a microtome. The author was approached to lead on the photographic protocol as part of her post-graduate certificate training at Staffordshire University. High-resolution digital images of an entire human arm were required, the main area of interest being the distal radioulnar joint of the wrist. Images were to be taken at 40 μm intervals as the specimen was sliced. When microtomy was undertaken through the ligaments images were made at 20 μm intervals. A method of suspending a camera approximately 1 metre above the specimen was devised, together with the preparation for the capture, processing and storage of images. The resulting images were then to be subject to further analysis in the form of 3-Dimensional reconstruction, using computer modelling techniques and software. The possibility of merging the images with sequences obtained from both CT & MRI using image handling software is also an area of exploration, in collaboration with the University of Manchester's Visualisation Centre.

  16. Spring-assisted surgery in the treatment of sagittal synostosis: A systematic review.

    PubMed

    Maltese, Giovanni; Fischer, Sara; Strandell, Annika; Tarnow, Peter; Kölby, Lars

    2015-06-01

    Premature sagittal synostosis (SS) can be surgically corrected using extensive cranioplasties or using less invasive methods, e.g. spring-assisted surgery (SAS). The aim of the present study was to perform a proper systematic review of springs in the treatment of SS. A literature search was performed with the assistance of a professional librarian in the databases PubMed, EMBASE, and The Cochrane Library between 1997 and September 2013. Studies that fulfilled the PICO (patients, interventions, controls, outcome) criteria were included. All studies were graded for methodological quality according to MINORS, and all retrospective studies were assessed according to a scale developed for retrospective studies in paediatric surgery. The quality of evidence was rated according to GRADE. A total of 241 abstracts were extracted in the literature search. Five studies met the PICO criteria. Two of these five were considered as preliminary reports and excluded. Assessment according to MINORS showed a mean score of 21, i.e. fair quality. The clinical outcome regarding cephalic index did not differ between the surgical techniques, but the quality of evidence, according to GRADE, that SAS was equally efficient, was very low. Clinical outcome regarding operation time, blood loss, ICU stay and hospital stay was in favour for SAS, but the quality of evidence was low. This systematic review has revealed that the level of evidence for SAS being an equally efficient surgical method as more extensive cranioplasties for SS is low or very low. The results point out the need for well-designed prospective studies within craniofacial surgery.

  17. A new operative open-wings technique to correct the frontoforehead unit in metopic synostosis.

    PubMed

    Messi, Marco; Consorti, Giuseppe; Lupi, Ettore; Girotto, Riccardo; Valassina, Davide; Balercia, Paolo

    2015-05-01

    The technology adoption and creation of a multidisciplinary team have helped to overcome the complexity associated. Craniofacial surgery has thus emerged from the valuable contributions of neurosurgery, maxillofacial surgery, plastic surgery, eyes, nose, and throat as well as head and neck surgery. A patient with trigonocephaly may present a prominent "keel" forehead, accompanied by recession of the lateral orbit rims, hypotelorism, and constriction of the anterior frontal fossa when the metopic suture fuses before 6 months of age. In a period between 2007 and 2011, in the Salesi Children's Hospital, were treated for nonsyndromic variety of metopic synostosis 11 infants; their ages ranged from 6 months to 9 months, and 7 were males and 4 females. The most important aims of our new surgical technique are the achievement of symmetry as well as normal proportion and reconstruction of the frontoforehead unit but remaining in a very conservative treatment. The morphology and position of the supraorbital ridge-lateral orbital rim region are key elements of upper facial esthetics. This new "open-wings" technique for the reconfiguration of the bilateral emisupraorbital bar requires a midline incomplete osteotomy that involves only the internal cortex of the frontonasal region. Hence, both lateral orbital walls are bent inwardly and tilting forward, as in computed tomographic scan planning, with a greenstick fracture pivoting on the preserved medial frontonasal region. This open-wings conservative technique allows the avoidance of the most important complication that may result in the traditional way such as dead space in the anterior cranial fossa, infections, and blood loss but with an achievement of satisfactory craniofacial form and aesthetic result.

  18. 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.

  19. Treatments of osteoarthritis of the distal radioulnar joint: long-term results of three procedures.

    PubMed

    Minami, Akio; Iwasaki, Norimasa; Ishikawa, Jun-Ichi; Suenaga, Naoki; Yasuda, Kazunori; Kato, Hiroyuki

    2005-01-01

    Sixty-one wrists in 61 patients with osteoarthritis of the distal radioulnar joint treated by three consecutive procedures (20 Darrach, 25 Sauvé-Kapandji and 16 hemiresection-interposition arthroplastic procedures) were retrospectively evaluated. We preferred to perform Darrach's procedure in even the early stages of osteoarthritis of the distal radioulnar joint prior to introduction of Sauvé-Kapandji and hemirestion-interposition arthroplastic procedures. Subsequently the hemirestion-interposition arthroplasty was indicated when the triangular fibrocartilage cartilage was intact or could be reconstructed and the Sauvé-Kapandji when the triangular fibrocartilage complex could not be reconstructed or there was positive ulnar variance of more than 5 mm even though the triangular fibrocartilage complex was functional. Patient's age at operation averaged 59.8 years. There were 36 men and 25 women. There were 38 primary and 23 secondary osteoarthritis cases. Post-operative pain, range of motion, grip strength, return to work status; and radiographic results were evaluated. At the five- to 14-year (average, ten years) follow-up evaluation, relief of pain from Darrach procedure was inferior to the Sauvé-Kapandji procedure and hemiresection-interposition arthroplasty although this was not statistically significant. After both the Sauvé-Kapandji procedure and hemiresection-inteposition arthroplasty, post-operative improvements in flexion and extension of the wrist had statistical significance. Post-operative improvements in pronation and supination of the forearm showed statistical significances after all procedures. Improvements of post-operative grip strength and return to an original job in the Sauvé-Kapandji procedure and hemiresection-interposition arthroplasty were statistically superior to those with a Darrach's procedure. There were many post-operative complications following the Darrach's procedure. Darrach's procedure is better indicated for severe

  20. [Three cases of chronic volar dislocation of the distal radioulnar joint that were treated with the Sauvé-Kapandji procedure].

    PubMed

    Saito, Jun; Sakai, Akinori; Okimoto, Nobukazu; Ohshige, Toshihisa; Murakami, Taizou; Nakamura, Toshitaka

    2003-06-01

    Three cases of chronic volar dislocation of the distal radioulnar joint were treated with the Sauvé-Kapandji procedure. All patients were in their twenties. They visited our clinic complaining limitation of forearm wrist rotation and pain around the wrist for more than 6 weeks after an injury. Radiograph and CT scan revealed chronic volar dislocation of the distal radioulnar joint. Closed reduction failed. The Sauvé-Kapandji procedure was required to prevent the distal radioulnar joint from becoming unstable after open reduction. Range of motion of the injured wrist improved greatly, pain disappeared and they were able to return to sports after the operation and rehabilitation. Therefore, the Sauvé-Kapandji procedure is effective in curing chronic volar dislocation of the distal radioulnar joint.

  1. [The pathomorphology of congenital spinal defects in relation to future clinical development of the disease].

    PubMed

    Malawski, Stefan; Malawski, Piotr

    2002-01-01

    The authors categorised congenital malformations of the spine into five different pathomorphologic groups basing on a series of 61 cases (age ranging from 1 to 50 years): defects of the vertebra, of the vertebral body, intervertebral synostosis, rib synostosis, and defects of the vertebral arch. A total of over 30 different kinds of malformations were obtained in this classification. In the analysed series 34 patients had a predominant kind of malformation, while in 27 cases mixed malformations were noted. These malformations lead to spine deformities: 21 cases with arch scoliosis, 15 cases with kyphoscoliosis, 13 cases with angular scoliosis and 12 cases with kyphosis. Deformities had a tendency to progress with age. In 20 patients neurological deficits (increased spasticity, spastic paresis, spastic and flaccid paralysis) increased after reaching skeletal maturity. Prognosis as to deformity regression was made difficult be the large variety of different pathomorphologic types of deformity. Only general patterns were visible e.g. a tendency to progress in cases were hemivertebra were found. In cases were more than one type of deformity was noted, growth balance of the spine was not a rule. On the contrary, even small mixed deformities of ten progressed. This paper indicates that most congenital deformities of the spine should be treated operatively, either to correct the deformity or to attain spine growth balance.

  2. Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

    PubMed

    Quercia, Nada L; Teebi, Ahmad S

    2002-01-01

    The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling.

  3. Sauvé-Kapandji procedure for disorders of the distal radioulnar joint: a simplified technique.

    PubMed

    Rothwell, A G; O'Neill, L; Cragg, K

    1996-09-01

    A simplified technique of the Sauvé-Kapandji (SK) procedure for disorders of the distal radioulnar joint (DRUJ) is described. The DRUJ is transfixed by a screw but is not formally exposed and fused, the periosteum of the distal ulna is not excised, and the pronator quadratus is not advanced into the pseudarthrosis. Stability of the ulna shaft is obtained by suturing the sheath of the extensor carpi ulnaris (ECU) and periosteum as a single layer firmly over the ulnar stump and pseudarthrosis. The operating time averages 20 minutes. Review of 28 wrists demonstrated relief of pain in 27; 80 degrees or greater of pronation and supination in 19 and 20, respectively; fusion of the DRUJ in 18; and ulnar carpal shift in 3. The main complications were related to screw placement and length and prominence of the ECU tendon. The simplified SK procedure reliably relieves pain and restores movement at the DRUJ.

  4. Arthroscopically assisted Sauvé-Kapandji procedure: an advanced technique for distal radioulnar joint arthritis.

    PubMed

    Luchetti, Riccardo; Khanchandani, Prakash; Da Rin, Ferdinando; Borelli, Pierpaolo P; Mathoulin, Christophe; Atzei, Andrea

    2008-12-01

    Osteoarthritis of distal radioulnar joint (DRUJ) leads to chronic wrist pain, weakness of grip strength, and limitation of motion, all of which affect the quality of life of the patient. Over the years, several procedures have been used for the treatment of this condition; however, this condition still remains a therapeutic challenge for the hand surgeons. Many procedures such as Darrach procedure, Bower procedure, Sauvé-Kapandji procedure, and ulnar head replacement have been used. Despite many advances in wrist arthroscopy, arthroscopy has not been used for the treatment of arthritis of the DRUJ. We describe a novel technique of arthroscopically assisted Sauvé-Kapandji procedure for the arthritis of the DRUJ. The advantages of this technique are its less invasive nature, preservation of the extensor retinaculum, more anatomical position of the DRUJ, faster rehabilitation, and a better cosmesis.

  5. A case report of distal radioulnar joint dislocation fixed by using mini-plate-button.

    PubMed

    Sang, Lili; Liu, Hongliang; Liu, Jian; Chen, Bojian; Xu, Shuchai

    2017-01-01

    Pathological factors may cause significant distal radioulnar joint (DRUJ) dislocation, which is a rare clinical entity in orthopedic literature, and corresponding treatments are not uniform. We describe the case of a DRUJ dislocation caused by giant cell tumour of tendon sheath (GCTTS) in wrist. At surgery, the stabilization of DRUJ was constructed by using mini-plate-button after removal of intraoperative removal of the tumor. Postoperative plain films showed good position, and no obvious dislocation was found. Reduction of DRUJ dislocation was facilitated by mini-plate-button and absorbable suture. The treatment avoided intro-articular or extra-articular ligament construction and damage of adjacent tissue and bone. For DRUJ dislocation caused by GCTTS leading to severe tendon and ligament damage, the operative treatment of mini-plate-button may be effective. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

  6. Coronal suturectomy through minimal incisions and distraction osteogenesis are enough without other craniotomies for the treatment of plagiocephaly due to coronal synostosis.

    PubMed

    Tellado, Manuel Gómez; Lema, Ana

    2009-11-01

    In the last few years, many surgeons have tried to reduce the damage produced during surgical approaches by trying to apply the principles of minimal invasive surgical techniques in every type of surgery. Some endoscopic techniques, added to orthopedic mechanisms, allow us to reduce the size of the incisions needed for the craniosynostosis surgery. We present a conservative surgical option in the treatment of one frequent craniofacial malformation due to synostosis: plagiocephaly due to coronal synostosis. We have operated on 10 patients with unilateral coronal synostosis. In all cases, a unique craniotomy, just in the coronal suture, was made without other accessory craniotomies. Mobilization of the frontal bone was not done at time of surgery, but it was done slowly with a distractor device later. All the patients were younger than 14 months, and the minimum follow-up has been 1 year after the operative course, and in all the patients, the anthropometric results were satisfactory both for the families and the medical team.The treatment of coronal synostosis can be made with both a simple coronal suturectomy, using small incisions under endoscopic control, and the application of a unidirectional bone distraction system. An orthopedic helmet can help to gain better results for reshaping a patient's cranial vault, during the last part of the postoperative period.

  7. Salvage of a failed Sauve-Kapandji procedure using a total distal radio-ulnar joint replacement.

    PubMed

    Atwal, N S; Clark, D A; Amirfeyz, R; Bhatia, R

    2010-01-01

    This is the first report in the literature of a patient treated with a DRUJ replacement after Sauvé-Kapandji procedure failed due to pain and instability. The DRUJ replacement is an unconstrained, biomechanically more advantageous implant which can confer stability in cases where soft tissues are inadequate. We describe the treatment and outcome of persistent ulnar instability with a distal radio-ulnar joint replacement following failed salvage procedures for a malunion of a distal radius fracture.

  8. [Results of Kapandji-Sauvé procedure with distal radio-ulnar fusion and segmental resection of the ulna].

    PubMed

    Haferkamp, H; Heidemann, B; Gühne, O; Deventer, B

    2003-05-01

    The Kapandji-Sauvé procedure was performed in 75 patients between 1990 and 2003. The most important indication was painful and restricted forearm rotation after fracture of the distal radius combined with dislocation or destruction of the distal radioulnar joint. 25 patients were followed up using a modified Martini score. We found a significant improvement of forearm rotation, reduction of pain and a good patient satisfaction in a long-term follow-up ranging from three to 12 years.

  9. [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.

  10. 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 ...

  11. 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 ...

  12. 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, ...

  13. 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 ...

  14. 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.

  15. Unilateral coronal synostosis: can we trust the sagittal suture as a landmark for the underlying superior sagittal sinus?

    PubMed

    Protzenko Cervante, Tatiana; Arnaud, Eric; Brunelle, Francis; Di Rocco, Federico

    2016-05-01

    OBJECTIVE The sagittal suture is usually considered an external anatomical landmark, indicating the location of the superior sagittal sinus (SSS) for surgical approaches. Children with unilateral coronal synostosis (UCS) often present with an important deviation of the sagittal suture. Because these patients usually undergo frontal reconstruction or even endoscope-assisted minimally invasive procedures, it is imperative to know the location of the SSS. The aim of this investigation was to study the anatomical relationship between the SSS and the sagittal suture in children with anterior plagiocephaly. METHODS The authors retrospectively studied the relationship between the sagittal sinus and the sagittal suture at 5 points: nasion, midpoint nasion-bregma, bregma, midpoint bregma-lambda, and lambda. The study analyzed CT scans of 50 children with UCS admitted to the craniofacial unit of Necker Enfants Malades Hospital between March 2006 and March 2013 and compared them with 50 control children with no evidence of craniosynostosis, bone disease, or genetic syndromes. The authors also analyzed the presence of extracerebral fluid collection and ventricular asymmetry in children with UCS. RESULTS Fifty-six percent of patients had anterior right UCS and 44% had left-sided UCS. Type I UCS was seen in 1 patient, Type IIA in 20 patients, Type IIB in 20 patients, and Type III in 9 patients. The authors found that the nasion is usually deviated to the ipsilateral side of the synostosis, the bregma contralaterally, and the lambda ipsilaterally. The gap distances between the reference point and the SSS were 0-7.3 mm (mean 1.4 mm) at the nasion; 0-16.7 mm (mean 3.8 mm) at the midpoint nasion-bregma; 0-12 mm (mean 5.8 mm) at the bregma; 0-9.5 mm (mean 3 mm) at the midpoint bregma-lambda; and 0-11.6 mm (mean 5.5 mm) at the lambda. Conversely, a discrepancy of more than 1 mm between the SSS and the position of the suture was found only in 7 control cases (14%). Of patients with UCS

  16. Internal Distraction Osteogenesis With Piezosurgery Oblique Osteotomy of Supraorbital Margin of Frontal Bone for the Treatment of Unilateral Coronal Synostosis.

    PubMed

    Shen, Weimin; Cui, Jie; Chen, Jianbing; Ji, Yi; Kong, Liangliang

    2017-05-01

    To assess the utility of internal distraction osteogenesis with Piezosurgery oblique osteotomy of supraorbital margin of frontal bone for the treatment of unilateral coronal synostosis and to study the outcome and complications of this procedure. Oblique osteotomy allows for entry into the cranial cavity, and along with parallel cut to the roof of the orbit, avoids the need to cut into the orbit which forms the frontal flap. Oblique osteotomy was performed along the supraorbital rim to do a frontal suture of the glabella (ages of patients were less than 1 year) or on the opposite side of the supraorbital rim (ages of patients were older than 1 year) after performing a suturectomy of the effected coronal suture. Two internal distraction devices were subsequently placed across the osteotomized, fused coronal suture. Finally, the cranium pieces were divided in the middle and placed in the middle of the frontal bone using biological glue. Five days after the operation, a 0.6-mm distraction was done twice daily. The distraction was removed 6 months after reaching 2 to 3 cm. Internal distraction osteogenesis with supraorbital oblique osteotomy was performed in 9 patients suffering from unilateral coronal synostosis. Eight patients had no postoperative infections around the shaft puncture wounds. One patient had infection in the rods around the distraction during the period of fixed, but was cured with antibiotic treatment. During a mean follow-up period of 12 months (5-26 months), all patients were satisfied with the cosmetic and functional results. No complications, including fixed screw displacement, penetration of the cranium and dura mater or retraction of distraction devices, occurred. The devices were exposed in 1 patient, resulting in a postoperative scar. Despite these complications, the cranium was successfully expanded in all patients. Use of this procedure avoids the need for frontal osteotomy to move the orbit forward. Adding 2 cranium strips can be used to

  17. Frontobiparietal remodeling with or without a widening bridge for sagittal synostosis: comparison of 2 cohorts for aesthetic and functional outcome.

    PubMed

    van Veelen, Marie-Lise C; Mihajlović, Dalibor; Dammers, Ruben; Lingsma, Hester; van Adrichem, Leon N A; Mathijssen, Irene M J

    2015-07-01

    OBJECT Various techniques to correct sagittal synostosis have been described. The authors of this study assess the results of 2 techniques for late complete cranial remodeling and test the hypothesis that adding a widening bridge would improve outcome. METHODS In this retrospective study, the authors evaluated patients with nonsyndromic sagittal synostosis-those who underwent frontobiparietal remodeling (FBR) and those who underwent modified FBR (MFBR) involving the introduction of a bony bridge to increase the width of the skull. Outcomes for both groups are described in terms of the aesthetic results assessed on photographs and any changes in the cranial index (CI) and head circumference over time, the presence of papilledema, and complaints of headache. The effect of the surgical technique on CI and head circumference over time was assessed using linear regression analysis, with adjustment for preoperative CI and head circumference. RESULTS Sixty-nine patients with isolated sagittal synostosis were included in this study: 35 underwent MFBR and 34 underwent the original technique of FBR. The mean follow-up period was 7 years. In the 1st year after surgery, mean CI improved by 9% in the FBR group and by 12% in the MFBR group. One year after surgery, CI in the MFBR group was on average 4.7% higher than that in the FBR group (p < 0.001). During follow-up, CI decreased in both groups; however, at all time points CI was significantly higher in the MFBR group than in the FBR group. The impact of surgical technique on CI was less important than the impact of preoperative CI (R(2)= 0.26 vs 0.54), and this applied at all time points during follow-up. Head circumference declined during follow-up in both groups. It was influenced by preoperative head circumference, but not by surgical technique. Aesthetic outcome, prevalence of headache (42%), and papilledema (7%) were comparable in both groups. CONCLUSIONS Adding a widening bridge to late complete remodeling significantly

  18. Neurodevelopmental and esthetic results in children after surgical correction of metopic suture synostosis: a single institutional experience.

    PubMed

    Kunz, Mathias; Lehner, Markus; Heger, Alfred; Armbruster, Lena; Weigand, Heike; Mast, Gerson; Peraud, Aurelia

    2014-06-01

    Metopic suture synostosis leading to trigonocephaly is considered the second most frequent type of craniosynostosis. Besides esthetic results, we present 25 consecutive pediatric cases operated upon metopic suture synostosis with a focus on the child's motor, speech, and neurocognitive development. Twenty-five children (aged 6 to 33 months; median 9.2 months) with trigonocephaly were operated upon between 2002 and 2012 with fronto-orbital advancement including frontal bone cranioplasty and fronto-orbital bandeau remodeling. Neurodevelopmental deficits were evaluated by a standardized questionnaire including gross motor function, manual coordination, speech, and cognitive function performed by independent pediatric/developmental neurologists before surgery and at 6 and 12 months of time interval postoperatively. Twenty-one (84 %) boys and four (16 %) girls were included in this study. Mean follow-up period was 33 ± 28 months. Outcome analysis for esthetic results showed a high degree of satisfaction by the parents and treating physicians in 23 cases (92 %). Preoperative evaluation revealed neurodevelopmental deficits in 10 children (40 %; six mild, four moderate degree). Twelve children (48 %) were proven to have a normal preoperative neuropediatric development. Mild or moderate developmental restraints were no longer apparent in 6/13, improved but still apparent in 3/13, and stable in 4/13, 6 months after cranial vault reconstruction. At 12 months of follow-up, deficits were no longer present in 9/13 and improved in 4/13. Apart from this cohort, two children were diagnosed with a syndromic form, and one child had a fetal valproate syndrome. In these three children, neurodevelopmental deficits were more pronounced. Neurocognitive progress was obvious, but was comparably slower, and major deficits were still apparent at last follow-up. All children with proven mild/moderate/severe deficits received intensive physiotherapy, logopedic, or neurobehavioral support. As

  19. [Correction of posttraumatic disorders of the distal radio-ulnar joint with the Sauvé-Kapandji surgical procedure].

    PubMed

    Voche, P; Van Overstraeten, L; Merle, M

    1993-01-01

    The Sauve-Kapandji procedure was performed on 21 patients with posttraumatic lesions between May of 1985 and May of 1991; average clinical and radiological follow-up was 3.4 years. Causal mechanisms were as follows: 12 cases were sequelae of fractures of the distal extremity of the radius; 5 cases were sequelae of fractures of the diaphyses of the two forearm bones and/or of the head of the radius; 2 cases of instability of the distal radio-ulnar joint; 2 cases of posttraumatic isolated arthritis of the distal radio-ulnar joint. Subjective evaluation by the patients of the results of surgery was as follows: 8 excellent, 6 good, 2 satisfactory and 5 poor. The most consistent improvement was a gain of mobility in pronation and supination which averaged 87 per cent of that of the healthy contralateral side. Nine patients were free of pain, 6 experienced some pain only during effort, and 6 still suffered constant pain. Grip strength was the factor that changed the most: it averaged 55 per cent of that of the healthy contralateral side. Indications for the Sauve-Kapandji procedure and its results in posttraumatic lesions are discussed. This procedure is compared to other techniques used to correct posttraumatic disorders of the distal radio-ulnar joint.

  20. [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.

  1. Congenital torticollis in association with craniosynostosis.

    PubMed

    Raco, A; Raimondi, A J; De Ponte, F S; Brunelli, A; Bristot, R; Bottini, D J; Ianetti, G

    1999-04-01

    The incidence of congenital torticollis in association with plagiocephaly is 1 in 300 newborns, with the torticollis resulting from pathologically sustained contraction of the sternocleidomastoid. Such conditions as facial asymmetries, craniovertebral anomalies, cervical hemivertebra, and mono- or polydysostoses may also be associated with torticollis diagnosed during the neonatal period. With particular reference to synostotic (coronal and/or lambdoidal) plagiocephaly, a clear distinction is made in this paper between posterior neurocranial flattening secondary to the sustained rotation of the skull resulting from torticollis and that seen in synostotic plagiocephaly. The rarity of torticollis with sustained contraction of the sternocleidomastoid muscle relative to the frequency of occipital-parietal flattening in newborn kept in the supine position has not been discussed in the literature and is therefore of clinical importance. In light of the fact that the prognosis and, consequently, the treatment plan vary directly with the presence or absence of synostoses, clinical evaluation also includes cephalometrics, plain skull X-rays, and CT imaging. If the torticollis is associated with neurocranial deformity but synostosis is absent, cervical traction and physiotherapy resolve the symptoms. When, however, the clinical picture is complicated by synostotic plagiocephaly, corrective surgery is necessary, though cervical traction and physiotherapy are essential to provide early and complete cure of the torticollis.

  2. Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

    PubMed

    Gandomi, S K; Parra, M; Reeves, D; Yap, V; Gau, C-L

    2015-01-01

    Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically unexplained, and to the best of our knowledge a total of 35 patients, 31 different mutations, 4 deletions, and 6 reports have been published. Our proband was born at 36 weeks gestation with microcephaly, microcrania, cleft palate, severe retrognathia, oral and pharyngeal dysphagia, bilateral proximal radioulnar synostosis, 11 thoracic ribs, abnormal magnetic resonance imaging (MRI) findings including simplified gyral pattern and mild dilatation of the posterior bodies of the lateral ventricles secondary to thinning of the white matter, high-pitched cry due to unilateral vocal cord paralysis, and dysmorphic features. Array comparative genomic hybridization (aCGH) + single nucleotide polymorphism (SNP) analysis identified a likely de novo pathogenic deletion on chromosome 17q21.31, encompassing the EFTUD2 gene. Our case represents the fifth reported proband to have MFDM caused by small deletions involving EFTUD2. All known mutations involving EFTUD2 result in genetic haploinsufficiency, consistent with our proband's case as well. Her phenotypic features both overlap and expand on the clinical features of previously reported cases, and her genetic diagnosis also supports the use of aCGH as a first-tier testing option for this disorder.

  3. [Functional results after the Kapandji-Sauvé operation for salvage of the distal radioulnar joint].

    PubMed

    Czermak, C; Wittemann, M; Germann, G; Sauerbier, M

    2007-12-01

    The Kapandji-Sauvé procedure is a salvage operation for the treatment of painful arthrosis of the distal radioulnar joint (DRUJ). It should be performed if an anatomical reconstruction of the DRUJ is not longer possible. The present study was designed to evaluate mid-term results by means of objective parameters (strength, range of motion, Krimmer and Mayo wrist scores) and subjective self-assessment of patient disabilities (DASH, pain) after the Kapandji-Sauvé procedure. Fifteen patients (8 female, 7 male, average age 49 years) underwent Kapandji-Sauvé procedure and were retrospectively reviewed 55 months after the operation (range, 6 months to 8 years). As a reason for DRUJ arthrosis we found fractures of the distal radius in 7 patients, severe contusion and distorsion trauma (5), luxation of the DRUJ (2) and a Madelung deformity (1). For evaluation of grip strength the Jamar dynamometer was used. Pain assessment was performed with a visual analogue scale (VAS 0 - 100) pre- and postoperatively, before and after physical load was used. The DASH questionnaire was used in all patients for subjective outcome assessment. Forearm rotation improved by 59,7 % (89,3 to 142,7 degrees) as well as grip strength by 63,6 % (13 to 20,7 kg) compared preoperative to postoperative. Pain reduction was significant (p = 0,003) before physical load by 48,6 % and after physical load by 63,1 % compared with the preoperative values. The mean DASH score was 41,6 points, Krimmer and Mayo-Wrist scores were 61 and 63 respectively. Radioulnar impingement occurred in 14 patients after an X-ray under load. Because of the improvement of forearm rotation and grip strength 12 patients would undergo the procedure again, three patients were not satisfied with their results. Our clinical findings show good improvement of forearm rotation, grip strength and reduction of pain after Kapandji-Sauvé procedure. However midrange DASH, Mayo and Krimmer-Wrist scores suggest that the Kapandji

  4. [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.

  5. One size does not fit all: distal radioulnar joint dysfunction after volar locking plate fixation.

    PubMed

    Jones, Christopher W; Lawson, Richard D

    2014-02-01

    Background Fractures of the distal radius are among the most common injuries treated by orthopedic surgeons worldwide. Failure to restore distal radius alignment can lead to fracture malunion and poor clinical outcomes, including distal radioulnar joint (DRUJ) instability and limitation of motion. Case Description We present a unique case of DRUJ dysfunction following volar plate fixation of bilateral distal radius fractures and analyze the biomechanical causes of this complication. As a result of a relatively excessive tilt of the precontoured locking plate (in comparison to the patient's particular anatomy), the fracture on one side was "over-reduced," disrupting the biomechanics of the DRUJ, causing a supination block. Clinical Relevance Volar locking plates are not a panacea to all distal radius fractures. Plate selection and fixation technique must include consideration of patient anatomy. Robust plates offer the advantage of providing rigid fixation but can be difficult to contour when reconstructing normal anatomy. Restoration of patient-specific anatomy is crucial to the management of distal radius fractures.

  6. Clinical and Non-Clinical Aspects of Distal Radioulnar Joint Instability

    PubMed Central

    Wijffels, MME; Brink, PRG; Schipper, IB

    2012-01-01

    Untreated distal radioulnar joint (DRUJ) injuries can give rise to long lasting complaints. Although common, diagnosis and treatment of DRUJ injuries remains a challenge. The articulating anatomy of the distal radius and ulna, among others, enables an extensive range of forearm pronosupination movements. Stabilization of this joint is provided by both intrinsic and extrinsic stabilizers and the joint capsule. These structures transmit the load and prevent the DRUJ from luxation during movement. Several clinical tests have been suggested to determine static or dynamic DRUJ stability, but their predictive value is unclear. Radiologic evaluation of DRUJ instability begins with conventional radiographs in anterioposterior and true lateral view. If not conclusive, CT-scan seems to be the best additional modality to evaluate the osseous structures. MRI has proven to be more sensitive and specific for TFCC tears, potentially causing DRUJ instability. DRUJ instability may remain asymptomatic. Symptomatic DRUJ injuries treatment can be conservative or operative. Operative treatment should consist of restoration of osseous and ligamenteous anatomy. If not successful, salvage procedures can be performed to regain stability. PMID:22675411

  7. [Sauvé-Kapandji procedure in destructive monarthritis of the distal radioulnar joint].

    PubMed

    Gaulke, R

    2003-10-01

    Detructive monarthritis of the distal radioulnar joint (DRUJ) is rare. Three patients with destructive monarthritis of the DRUJ were treated by arthrodesis in the technique described by L. Sauvé and M. Kapandji, modified by I. A. Kapandji. Prospective evaluation with a mean follow-up of 12 months was performed. After cast immobilization for 3 weeks and mobilization, bone healing was uneventful. All patients were completely free of pain. Even a painless "snap" at the end of the ulna was mentioned in all, if rotating the forearm with powerful grasp. Rotation of the forearm improved completely. Wrist motion also improved after arthrodesis of DRUJ but did not reach the range of motion of the unaffected hand. Irritation of the ramus dorsalis nervi ulnaris was found in one patient 9.5 months after arthrodesis and disappeared after removal of the screws. Arthrodesis of the DRUJ with distal segmental resection of the ulna seams to be an effective therapy for destructive monarthritis of the DRUJ after failed non-operative and joint-preserving operative treatment.

  8. Arthroscopic-assisted repair of triangular fibrocartilage complex foveal avulsion in distal radioulnar joint injury

    PubMed Central

    Woo, Sung Jong; Jegal, Midum; Park, Min Jong

    2016-01-01

    Background: Disruption of the triangular fibrocartilage complex (TFCC) foveal insertion can lead to distal radioulnar joint (DRUJ) instability accompanied by ulnar-sided pain, weakness, snapping, and limited forearm rotation. We investigated the clinical outcomes of patients with TFCC foveal tears treated with arthroscopic-assisted repair. Materials and Methods: Twelve patients underwent foveal repair of avulsed TFCC with the assistance of arthroscopy between 2011 and 2013. These patients were followed up for an average of 19 months (range 14–25 months). The avulsed TFCC were reattached to the fovea using a transosseous pull-out suture or a knotless suture anchor. At the final followup, the range of motion, grip strength and DRUJ stability were measured as objective outcomes. Subjective outcomes were assessed using the Visual Analog Scale (VAS) for pain, patient rated wrist evaluation (PRWE), Disabilities of the Arm, Shoulder and Hand questionnaire (DASH score) and return to work. Results: Based on the DRUJ stress test, 5 patients had normal stability and 7 patients showed mild laxity as compared with the contralateral side. Postoperatively, the mean range of pronation supination increased from 141° to 166°, and the mean VAS score for pain decreased from 5.3 to 1.7 significantly. The PRWE and DASH questionnaires also showed significant functional improvement. All patients were able to return to their jobs. However, two patients complained of persistent pain. Conclusions: Arthroscopically assisted repair of TFCC foveal injury can provide significant pain relief, functional improvement and restoration of DRUJ stability. PMID:27293286

  9. Carpal arch and median nerve changes during radioulnar wrist compression in carpal tunnel syndrome patients

    PubMed Central

    Marquardt, Tamara L.; Evans, Peter J.; Seitz, William H.; Li, Zong-Ming

    2015-01-01

    The purpose of this study was to investigate the morphological changes of the carpal arch and median nerve during the application of radiounlarly directed compressive force across the wrist in patients with carpal tunnel syndrome. Radioulnar compressive forces of 10 N and 20 N were applied at the distal level of the carpal tunnel in 10 female patients diagnosed with carpal tunnel syndrome. Immediately prior to force application and after 3 minutes of application, ultrasound images of the distal carpal tunnel were obtained. It was found that applying force across the wrist decreased the carpal arch width (p < 0.001) and resulted in increased carpal arch height (p < 0.01), increased carpal arch curvature (p < 0.001), and increased radial distribution of the carpal arch area (p < 0.05). It was also shown that wrist compression reduced the flattening of the median nerve, as indicated by changes in the nerve’s circularity and flattening ratio (p < 0.001). Statement of clinical significance This study demonstrated that the carpal arch can be non-invasively augmented by applying compressive force across the wrist, and that this strategy may decompress the median nerve providing symptom relief to patients with carpal tunnel syndrome. PMID:26662276

  10. Posterior interosseous nerve palsy by synovial cyst of proximal radioulnar joint: our experience after 5 years.

    PubMed

    Monacelli, G; Ceci, F; Prezzemoli, G; Spagnoli, A; Lotito, S; Irace, S

    2011-06-01

    The posterior interosseous nerve palsy is a neuropathy of radial nerve interesting its deep motor branch. The neuropathy can appear with a hollow in the proximal half of the forearm without significant swelling, a complete loss of extension of the fingers with radial deviation of the wrist during extension. In some cases, PIN compression may simulate tendon rupture in rheumatologic diseases, because the pain and the paralysis occur suddenly, so often can be difficult to make a diagnosis. The palsy is caused by compression of the posterior interosseous nerve from soft tissue tumours or tumour-like masses: ganglions, lipomas, rheumatoid synovitis, synovial chondromatosis, fibromas, neurofibromas, bursitis, synovial cysts of the elbow and radioulnar proximal joints. The aim of our research was to individuate the better treatment for the posterior interosseous nerve palsy. From 2002 to 2007 we examined 8 patients: 2 female and 6 male. Median age was 43 years. The diagnosis was made by clinical examination, ultrasound, nerve conduction studies and magnetic resonance imaging (MRI). Patients underwent to decompressing posterior interosseous nerve surgery. After the surgical exploration in 8 cases a globular mass of around 2.5 cm to 4.5 cm diameter was discovered. At the histological examination, a synovial cyst of the elbow joint was found in 7 out of 8 patients and an hemangioma tumor in the one remaining patient. 12 months was the median time for a complete recovery after the operation, confirmed by EMG. The surgical treatment offers a complete resolution in all cases.

  11. Sonographically guided distal radioulnar joint injection: technique and validation in a cadaveric model.

    PubMed

    Smith, Jay; Rizzo, Marco; Sayeed, Yusef A; Finnoff, Jonathan T

    2011-11-01

    Distal radioulnar joint (DRUJ) disorders are uncommon but important causes of ulnar-sided wrist pain and disability. Fluoroscopically guided injections may be performed to diagnose or treat DRUJ-related pain or as part of a diagnostic arthrogram. Sonographic guidance may provide a favorable alternative to fluoroscopic guidance for distal DRUJ injections. This report describes and validates a sonographically guided technique for DRUJ injections in an unembalmed cadaveric model. An experienced clinician used sonographic guidance to inject diluted colored latex into the DRUJs of 10 unembalmed cadaveric specimens. Subsequent dissection by a fellowship-trained hand surgeon confirmed accurate injections in all 10 specimens. Two cases of ulnocarpal flow, indicative of triangular fibrocartilage injury, were noted during injection and subsequently confirmed during dissection. Clinicians should consider using sonographic guidance to perform DRUJ injections when clinically indicated. Further research should explore the efficacy of sonographically guided DRUJ injections to treat patients with painful DRUJ syndromes or to evaluate the triangular fibrocartilage complex in patients with ulnar wrist pain syndromes.

  12. 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 ...

  13. 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…

  14. [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.

  15. 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."

  16. 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…

  17. Symptoms and radiographic findings in the proximal and distal ulnar stumps after the Sauvé-Kapandji procedure for treatment of chronic derangement of the distal radioulnar joint.

    PubMed

    Inagaki, Hironobu; Nakamura, Ryogo; Horii, Emiko; Nakao, Etsuhiro; Tatebe, Masahiro

    2006-01-01

    We analyzed correlations between symptoms and radiographic findings with respect to the proximal and distal ulnar stumps after the Sauvé-Kapandji procedure for treating chronic derangement of the distal radioulnar joint. A total of 26 patients were studied (13 men, 13 women) with a mean age of 46 years at examination. Clinical assessment included elicitation of postoperative symptoms related to the proximal and distal ulnar stumps. In the radiographic study the radioulnar distance in the neutral wrist position and the presence or absence of scalloping at the radius were determined from posteroanterior (PA) views. The total mobility distance of the proximal ulnar stump was measured on the PA and lateral views while the wrist moved from radial to ulnar deviation or from extension to flexion. Eleven patients complained of tenderness over the distal ulnar stump and 5 patients felt discomfort around the proximal ulnar stump during forearm rotation. The postoperative radioulnar distance in patients with tenderness was significantly smaller than in the group without tenderness. Scalloping at the radius was shown in 9 patients but it was not related to the radioulnar distance. The total mobility distance of the proximal ulnar stump on the PA view was significantly greater in patients with tenderness than in those without, and it also was significantly greater in patients with scalloping than in those without. The total mobility distance on the lateral view was significantly greater in the group with discomfort than in the group without discomfort. The radioulnar distance was related to tenderness over the distal ulnar stump but not to the scalloping. Tenderness and scalloping each were related to radioulnar instability of the proximal ulnar stump. Discomfort around the proximal ulnar stump was related to dorsovolar instability of the stump. Prognostic, Level IV.

  18. Distal radioulnar joint instability (Galeazzi type injury) after internal fixation in relation to the radius fracture pattern.

    PubMed

    Korompilias, Anastasios V; Lykissas, Marios G; Kostas-Agnantis, Ioannis P; Beris, Alexandros E; Soucacos, Panayiotis N

    2011-05-01

    The purpose of this study was to classify Galeazzi type injuries and determine the association of residual instability after rigid fixation with the fracture pattern of the shaft of the radius, using a system that is based on anatomic landmarks of the radial shaft. The clinical records of 95 patients (72 men and 23 women) with Galeazzi type injuries requiring open reduction and internal fixation of the fractures were retrospectively reviewed. The mean follow-up was 6.8 years (range, 18 mo to 11 y) after injury. Sixty-nine fractures occurred in the distal third of the radial shaft (type I), 17 fractures were in the middle third (type II), and 9 fractures were in the proximal third of the shaft of the radius (type III). Gross instability of the distal radioulnar joint (DRUJ) was determined intraoperatively by manipulation after radial fixation as compared to the uninjured side. Forty patients had DRUJ instability after internal fixation and were treated with temporary pinning with a K-wire placed transversely proximal to the sigmoid notch. Distal radioulnar joint instability after internal fixation was recorded in 37 type I fractures, 2 type II fractures, and 1 type III fracture. Distal radioulnar joint instability following radial shaft fracture fixation is significantly higher in patients with type I fractures than in patients with type II or type III fractures. The location of the radius fracture can be sufficiently used for preoperative estimation of percentage chance of potential DRUJ instability after fracture fixation. Copyright © 2011 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  19. Divergent elbow dislocation with radial shaft fracture, distal ulnar deformation, and distal radioulnar joint instability: an unclassifiable Monteggia variant.

    PubMed

    Laratta, Joseph L; Yoon, Richard S; Frank, Matthew A; Koury, Kenneth; Donegan, Derek J; Liporace, Frank A

    2014-03-01

    Originally described by Monteggia and later classified by Bado, elbow dislocations with concurrent radial and ulnar shaft fractures with distal radioulnar joint (DRUJ) disruption are considered operative cases with high-energy injurious etiologies. Here, we present an unclassifiable Monteggia variant fracture suffered through a high axial load mechanism in a 47-year-old female. The fracture pattern initially exhibited included a divergent elbow dislocation, a radial shaft fracture, plastic deformation of the distal ulna, and DRUJ instability. Here we describe the pattern in detail, along with definitive treatment and clinical outcome at 1 year follow-up.

  20. A nondestructive, reproducible method of measuring joint reaction force at the distal radioulnar joint.

    PubMed

    Canham, Colin D; Schreck, Michael J; Maqsoodi, Noorullah; Doolittle, Madison; Olles, Mark; Elfar, John C

    2015-06-01

    To develop a nondestructive method of measuring distal radioulnar joint (DRUJ) joint reaction force (JRF) that preserves all periarticular soft tissues and more accurately reflects in vivo conditions. Eight fresh-frozen human cadaveric limbs were obtained. A threaded Steinmann pin was placed in the middle of the lateral side of the distal radius transverse to the DRUJ. A second pin was placed into the middle of the medial side of the distal ulna colinear to the distal radial pin. Specimens were mounted onto a tensile testing machine using a custom fixture. A uniaxial distracting force was applied across the DRUJ while force and displacement were simultaneously measured. Force-displacement curves were generated and a best-fit polynomial was solved to determine JRF. All force-displacement curves demonstrated an initial high slope where relatively large forces were required to distract the joint. This ended with an inflection point followed by a linear area with a low slope, where small increases in force generated larger amounts of distraction. Each sample was measured 3 times and there was high reproducibility between repeated measurements. The average baseline DRUJ JRF was 7.5 N (n = 8). This study describes a reproducible method of measuring DRUJ reaction forces that preserves all periarticular stabilizing structures. This technique of JRF measurement may also be suited for applications in the small joints of the wrist and hand. Changes in JRF can alter native joint mechanics and lead to pathology. Reliable methods of measuring these forces are important for determining how pathology and surgical interventions affect joint biomechanics. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  1. Total distal radioulnar joint prosthesis as salvage surgery in multioperated patients.

    PubMed

    Martínez Villén, G; García Martínez, B; Aso Vizán, A

    2014-12-01

    The purpose of this study was to report the results following implantation of a total distal radioulnar joint prosthesis in five multioperated patients with posttraumatic or Essex-Lopresti injury. The range of motion (ROM) for flexion and extension, radial deviation and ulnar deviation of the wrist, and pronation and supination of the forearm, grip strength, pain intensity through a visual analog scale (VAS), surgical complications and ability to return to work, were recorded. Subjective and objective functions were assessed using the quick DASH questionnaire and the modified Mayo wrist score, respectively. The mean postoperative follow-up was 4.3 years. Average postoperative increase in ROM was 28.8° for flexion-extension; 2.2° for radial and ulnar deviation, and 18° for pronation-supination, reaching 85.8%, 85% and 80.8% of the contralateral hand function, respectively. Grip strength increased by 6.8kg, with recovery of 78% of the strength of the unaffected hand. VAS score decreased to a mean of 6.2 postoperatively. There were complications in two cases. All five patients showed no signs of implant loosening or movement. The quick DASH score decreased from a mean of 85 preoperatively to 38.6 postoperatively. The modified Mayo wrist score increased from a mean of 24 preoperatively to 73 at final follow-up. Four patients recovered their professional and daily activities without restriction and were satisfied with the procedure; one patient with heterotopic bone formation at the distal tip of the ulnar stem did not want any further surgery and agreed to job modifications. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  2. Resurfacing the distal radioulnar joint with rib perichondrium-a novel method.

    PubMed

    Vedung, Torbjörn; Vinnars, Bertil

    2014-08-01

    Background Osteoarthritis in the distal radioulnar joint (DRUJ) is a challenging condition with few really reliable surgical options, particularly in young individuals. Traditional methods as hemiresection, the Darrach procedure, and the Sauvé-Kapandji procedure have less favorable results in the nonrheumatoid patient. The results after implant arthroplasty have improved, but long-term results are yet to be presented before implant arthroplasty can be recommended to young individuals with osteoarthritis in the DRUJ. An alternative method to treat osteoarthritic joints is surface replacement with free costal perichondrium. The technique has been used since the 1970s for other joints. Case Description We adapted the method and used it in two female patients (37 and 38 years old) with nontraumatic osteoarthritis in the DRUJ. Both patients had severe pain and were unable to work. The eroded joint surfaces were resected down to bleeding subchondral cortex. Perichondrium from the seventh rib was osteo-sutured and glued to the ulnar head and the sigmoid notch. Results The maximum follow-up-time in this retrospective review is 25 months. Our short-term results are encouraging in terms of pain relief, motion, grip strength, and return to work. The first patient had an excellent result and was completely normalized. The second patient has improved significantly and experiences only slight pain on heavy lifting and rotational load. Clinical Relevance Free costal perichondrium may be a useful alternative for treating osteoarthritis in the DRUJ, especially in young individuals. The option for a later implant arthroplasty is preserved because most of the anatomy of the joint and all the soft tissue stabilizers are intact. Level of Evidence Therapeutic IV, Case series.

  3. Resurfacing the Distal Radioulnar Joint with Rib Perichondrium–A Novel Method

    PubMed Central

    Vedung, Torbjörn; Vinnars, Bertil

    2014-01-01

    Background Osteoarthritis in the distal radioulnar joint (DRUJ) is a challenging condition with few really reliable surgical options, particularly in young individuals. Traditional methods as hemiresection, the Darrach procedure, and the Sauvé-Kapandji procedure have less favorable results in the nonrheumatoid patient. The results after implant arthroplasty have improved, but long-term results are yet to be presented before implant arthroplasty can be recommended to young individuals with osteoarthritis in the DRUJ. An alternative method to treat osteoarthritic joints is surface replacement with free costal perichondrium. The technique has been used since the 1970s for other joints. Case Description We adapted the method and used it in two female patients (37 and 38 years old) with nontraumatic osteoarthritis in the DRUJ. Both patients had severe pain and were unable to work. The eroded joint surfaces were resected down to bleeding subchondral cortex. Perichondrium from the seventh rib was osteo-sutured and glued to the ulnar head and the sigmoid notch. Results The maximum follow-up-time in this retrospective review is 25 months. Our short-term results are encouraging in terms of pain relief, motion, grip strength, and return to work. The first patient had an excellent result and was completely normalized. The second patient has improved significantly and experiences only slight pain on heavy lifting and rotational load. Clinical Relevance Free costal perichondrium may be a useful alternative for treating osteoarthritis in the DRUJ, especially in young individuals. The option for a later implant arthroplasty is preserved because most of the anatomy of the joint and all the soft tissue stabilizers are intact. Level of Evidence Therapeutic IV, Case series PMID:25097816

  4. Objective Outcomes Following Semi-Constrained Total Distal Radioulnar Joint Arthroplasty

    PubMed Central

    Bizimungu, Remy S.; Dodds, Seth D.

    2013-01-01

    A dysfunctional distal radioulnar joint (DRUJ) can significantly compromise an individual's forearm rotation, grip, and weight bearing at the hand and wrist. This retrospective study reports surgeon- and therapist-collected objective wrist function and subjective pain scores of 10 patients who received the Scheker total DRUJ prosthesis. A review of these patients' medical records was performed to collect preoperative measurements of wrist range of motion (ROM), grip strength, and pain scores (0–10 scale). The degree of pronation, supination, flexion, extension, radial deviation, and ulnar deviation were the outcome measures used to evaluate wrist ROM. Postoperative measurements were collected at a follow up of 5 ± 1.1 years in our clinic (minimum follow-up of 2yrs). Mean final wrist flexion and extension were 32.1 ± 22.8° and 44.8 ± 13.9°, respectively. Mean final supination and pronation were 72.5 ± 14.4° and 69.5 ± 14.6°, respectively. Average grip strength was 54.9 ± 23.7 lbs. The mean pain score was 3.6 ± 3.1. Although there were no statistically significant changes in any of these outcome measures, the Scheker prosthesis improved wrist ROM (with the exception of wrist flexion) and decreased pain. Grip strength decreased by less than 1 lb but was still higher than the postoperative grip strength measurements in the literature for this prosthesis. Because of the self-stabilizing nature of this prosthesis and the satisfactory functional outcomes from this study and other studies, the Scheker prosthesis is still a viable option for DRUJ pathology that is refractory to nonimplant arthroplasties. This is a therapeutic level IV study. PMID:24436836

  5. 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.

  6. [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.

  7. [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.

  8. 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.

  9. [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.

  10. The Sauvé-Kapandji procedure for chronic dislocation of the distal radio-ulnar joint with destruction of the articular surface.

    PubMed

    Nakamura, R; Tsunoda, K; Watanabe, K; Horii, E; Miura, T

    1992-04-01

    The Sauvé-Kapandji procedure has been performed in 15 non-rheumatoid patients with chronic distal radio-ulnar joint dislocation accompanied by joint damage or deformity. The clinical results were favourable; wrist pain improved in all patients, wrist flexion-extension was increased by more than 10 degrees in nine patients, grip strength of at least 80% of the contralateral wrist was achieved in 11 patients, and forearm rotation was more than 150 degrees in 12 patients. However, X-ray examination revealed an unstable proximal ulnar stump and radio-ulnar convergence in all patients similar to that associated with the Darrach procedure. Although the Sauvé-Kapandji procedure can preserve ulnar support of the wrist and is believed to yield more satisfactory results than the Darrach procedure, its extensive use is not recommended for non-rheumatoid distal radio-ulnar joint disorders, but it is recommended for chronic distal radio-ulnar joint dislocation with articular injury or deformity.

  11. Surgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report.

    PubMed

    Merchant, Rajiv; Bhatt, Nikita; Merchant, Mrugank

    2015-01-01

    Tarsal-carpal coalition syndrome is an autosomal dominant inherited condition characterized by fusion of the carpal and tarsal bones and foot deformity. Associated pain and/or gait disturbance are the main complaints. The deformity usually consists of varying degrees of hindfoot varus and forefoot supination. The treatment of these patients is mainly aimed at symptomatic relief. We performed a published data review of this condition and discuss our findings in the context of the case of a 10-year-old female with congenital varus deformity of both feet. The tarsal-carpal coalition syndrome has been included in the spectrum of heritable disorders related to mutations in the NOG gene. Deformity management should be customized to the patient's requirements, and satisfactory results are achievable with adequate rehabilitation. It is important to remember that surgery is only necessary for symptomatic relief and that patients with tarsal-carpal coalition syndrome should be followed up over time because the condition can evolve. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.

  12. 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

  13. 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

  14. The Sauve-Kapandji procedure and the Darrach procedure for distal radio-ulnar joint dysfunction after Colles' fracture.

    PubMed

    George, M S; Kiefhaber, T R; Stern, P J

    2004-12-01

    This retrospective study evaluated the results of the Darrach procedure and the Sauve-Kapandji procedure for the treatment of distal radio-ulnar joint derangement following malunion of dorsally displaced, unstable, intraarticular fractures of the distal radius in patients under 50 years of age. Twelve of 18 possible patients in the Sauve-Kapandji group completed the disabilities of the arm, shoulder, and hand survey at a mean of 4 years postoperatively and nine of the 18 returned for a follow-up examination at a mean of 2 years. Twenty-one of 30 possible patients in the Darrach group completed the disabilities of the arm, shoulder, and hand survey at a mean of 6 years postoperatively and 13 of these 30 returned for follow-up examination at a mean of 4 years. The Darrach procedure and the Sauve-Kapandji procedure yielded comparable and unpredictable results with respect to both subjective and objective parameters.

  15. 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

  16. 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.

  17. 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 ...

  18. 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

  19. 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 ...

  20. Assessment of dorsal instability of the ulnar head in the distal radioulnar joint: comparison between normal wrist joints and cases of ruptured extensor tendons.

    PubMed

    Naito, Kiyohito; Sugiyama, Yoichi; Aritomi, Kentaro; Nagahama, Yasushi; Tomita, Yoshimasa; Obayashi, Osamu; Kaneko, Kazuo

    2016-02-01

    In the present study, the adaptability of the distal radioulnar joint (DRUJ) was evaluated using conventional computed tomography (CT) evaluation methods. In addition, we investigated/compared a new method to evaluate dorsal displacement of the ulnar head. Our subjects consisted of 32 healthy volunteers (64 wrists) and 11 patients (13 wrists) with extensor tendon injuries related to dorsal displacement of the ulnar head. To diagnose instability in the DRUJ based on CT scans, the radioulnar line method and the modified radioulnar line method were measured. Instability was evaluated by the new method that the ulnar head was located on the dorsal side from a line involving the peak of Lister's tubercle in parallel to this baseline was regarded as showing abnormal dorsal displacement of the ulnar head. The diagnostic accuracy of each method was calculated. The sensitivities, specificities, false-positive rates, positive predictive values and the negative predictive value of new methods were better than other two methods. The new method that we recommend is simple. Based on the results of this study, an evaluation of normal/abnormal dorsal displacement of the ulnar head in the DRUJ using the new method may be useful for determining the timing of surgery.

  1. [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.

  2. Surgical correction of Madelung's deformity by combined corrective radioulnar osteotomy: 14 cases with four-year minimum follow-up.

    PubMed

    Laffosse, Jean-Michel; Abid, Abdelaziz; Accadbled, Frank; Knör, Gorka; Sales de Gauzy, Jérôme; Cahuzac, Jean-Philippe

    2009-12-01

    Fourteen wrists in 11 girls, mean age 13.3 years (range 9-16) at surgery, were treated for Madelung's deformity. The presenting complaint was incapacitating pain. All were treated by radial closing wedge osteotomy and ulnar shortening osteotomy. The dorsal retinaculum was also surgically repaired in six cases. At a mean follow-up of 5.1 years (range 4-8.75), we observed improved range of motion in both flexion/extension and pronation/supination and absence of pain during daily activity. Radiographically, positioning of the distal radial articular surface and lunate subsidence were improved. Union was obtained after all osteotomies without secondary procedures. Posterior displacement of the ulnar head persisted in two wrists. Combined radioulnar osteotomy restored the anatomy to as near normal as possible. This technique provides satisfactory and encouraging results and does not compromise the surgical future of the wrist. However, longer follow-up is required to assess recurrence or possible long-term degenerative consequences.

  3. 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.

  4. 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 ...

  5. Ulnar-sided wrist pain due to isolated disk tear of triangular fibrocartilage complex within the distal radioulnar joint: two case reports.

    PubMed

    Abe, Yukio; Tominaga, Yasuhiro

    2011-01-01

    Wrist arthroscopy has been successfully used with many modifications and improvements. However, distal radioulnar joint (DRUJ) arthroscopy is still uncommon. We experienced 2 cases of ulnar-sided wrist pain due to isolated triangular fibrocartilage complex (TFCC) disk tear within the DRUJ. DRUJ arthroscopy in these cases showed horizontal tear and fibrillation of TFCC disk without TFCC tear at the radiocarpal joint. Foveal attachment was intact in both cases. These were treated with debridement, which relieved pain after surgery and achieved good functional recovery. Although DRUJ arthroscopy is technically difficult, it is mandatory for making a diagnosis and treating ulnar-sided wrist pain.

  6. Modified Sauve-Kapandji procedure for disorders of the distal radioulnar joint in patients with rheumatoid arthritis. Surgical technique.

    PubMed

    Fujita, Satoru; Masada, Kazuhiro; Takeuchi, Eiji; Yasuda, Masataka; Komatsubara, Yoshio; Hashimoto, Hideo

    2006-03-01

    The Sauvé-Kapandji procedure has become popular for the treatment of disorders of the distal radioulnar joint in patients with rheumatoid arthritis, but this procedure is impossible to perform in patients with poor bone quality in the distal part of the ulna. We have modified the procedure for patients with poor bone quality in the distal part of the ulna. The modified procedure involves resecting the distal part of the ulna, making a drill-hole in the ulnar cortex of the distal part of the radius, rotating the resected portion of the ulna 90 degrees, inserting it into the distal part of the radius, and fixing it at that site with use of an AO cancellous-bone screw. In the present report, we describe the new operative technique and report the results after a minimum duration of follow-up of three years. This operation was performed in fifty-six patients (sixty-six wrists) with rheumatoid arthritis. The mean age at the time of the operation was 59.3 years. The mean duration of follow-up was forty-eight months. Patients were evaluated in terms of wrist pain, grip strength, and range of motion. Radiographic evaluation included calculation of the carpal translation index to assess the extent of ulnar translation of the carpus. Osseous union was achieved in all cases. Wrist pain resolved or decreased in all patients. The mean total range of forearm rotation increased from 144 degrees preoperatively to 167 degrees at the time of the most recent follow-up (p < 0.01). The mean carpal translation index did not change after the operation. The modified Sauvé-Kapandji procedure results in rigid fixation of the grafted bone. The technique provides sufficient osseous support of the carpus even in patients with rheumatoid arthritis and poor bone quality in the distal part of the ulna.

  7. Modified Sauvé-Kapandji procedure for disorders of the distal radioulnar joint in patients with rheumatoid arthritis.

    PubMed

    Fujita, Satoru; Masada, Kazuhiro; Takeuchi, Eiji; Yasuda, Masataka; Komatsubara, Yoshio; Hashimoto, Hideo

    2005-01-01

    The Sauvé-Kapandji procedure has become popular for the treatment of disorders of the distal radioulnar joint in patients with rheumatoid arthritis, but this procedure is impossible to perform in patients with poor bone quality in the distal part of the ulna. We have modified the procedure for patients with poor bone quality in the distal part of the ulna. The modified procedure involves resecting the distal part of the ulna, making a drill-hole in the ulnar cortex of the distal part of the radius, rotating the resected portion of the ulna 90 degrees , inserting it into the distal part of the radius, and fixing it at that site with use of an AO cancellous-bone screw. In the present report, we describe the new operative technique and report the results after a minimum duration of follow-up of three years. This operation was performed in fifty-six patients (sixty-six wrists) with rheumatoid arthritis. The mean age at the time of the operation was 59.3 years. The mean duration of follow-up was forty-eight months. Patients were evaluated in terms of wrist pain, grip strength, and range of motion. Radiographic evaluation included calculation of the carpal translation index to assess the extent of ulnar translation of the carpus. Osseous union was achieved in all cases. Wrist pain resolved or decreased in all patients. The mean total range of forearm rotation increased from 144 degrees preoperatively to 167 degrees at the time of the most recent follow-up (p < 0.01). The mean carpal translation index did not change after the operation. The modified Sauvé-Kapandji procedure results in rigid fixation of the grafted bone. The technique provides sufficient osseous support of the carpus even in patients with rheumatoid arthritis and poor bone quality in the distal part of the ulna.

  8. 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.

  9. 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.

  10. 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.

  11. [Ankle arthrodesis for congenital absence of the fibula].

    PubMed

    Exner, G Ulrich

    2005-10-01

    Bilateral congenital absence of the fibula in a 10-year-old boy. A marked valgus malalignment at the left ankle and a foot with three rays caused pain during standing and walking. Ortheses did not help. Therefore, various treatment options were considered such as amputation of the foot, a supramalleolar correction osteotomy, and a tibiotalar arthrodesis. Correction of malalignment and ankle arthrodesis stabilized with an external mini-fixator while sparing the distal tibial physis. Two skin incisions: one on the medial side visualizing the flexor tendons and the neurovascular bundle while sparing the sural nerve and the small saphenous vein. Exposure of the medial malleolus after division of its ligamentous and capsular attachments. Localization of the ankle joint. The second incision on the lateral side. Z-lengthening of the sole peroneal tendon. Opening of the ankle joint at the lateral and anterior aspect. Resection of the articular surfaces of tibia and talus based on a preoperatively made drawing that showed an alignment of the hindfoot with the longitudinal axis of the tibia and the foot in 90 degrees in relation to the leg. Temporary insertion of a Kirschner wire from the sole of the foot into the tibia to maintain the obtained correction. Placement of a mini-fixator: one threaded Kirschner wire crosses the talocalcaneal synostosis, the second the distal tibial epiphysis, and the third one the proximal third of the tibia. Once the frame is mounted, compression of the resection surfaces and slight distraction between the proximal and middle Kirschner wires. At the age of 16 years the boy is able to use a regular shoe with an orthotic insert; he is pain-free and can participate in all daily activities. The growth of the tibia has not been affected.

  12. Outcome of the Sauvé-Kapandji procedure for distal radioulnar joint disorder with rheumatoid arthritis or osteoarthritis: Results of one-year follow-up.

    PubMed

    Ikeda, Mikinori; Kawabata, Akira; Suzuki, Keisuke; Toyama, Masahiko; Egi, Takeshi

    2017-08-24

    We performed the Sauvé-Kapandji procedure for treating disorders of the distal radioulnar joint (DRUJ) in patients with rheumatoid arthritis (RA) or osteoarthritis (OA). This study aimed to compare and clarify the results of the SK procedure between RA and OA patients. We report the one-year follow-up results of patients who underwent the SK procedure to correct the DRUJ disorder caused by RA or OA. The study included 22 wrists of 19 patients with RA and 10 wrists of nine patients with OA. Pain, grip strength and range of motion of the wrist were examined clinically. For the evaluation of the stability of the carpus, ulnar stump and bone union, parameters were measured using radiographs. Shortened disabilities of the arm, shoulder and hand questionnaire (QuickDASH) was used for functional evaluation. Wrist pain reduced in all cases, and bone union was achieved in all wrists. The QuickDASH score significantly improved in both patients with RA and OA. In patients with RA, the range of motion increased significantly with regard to supination but decreased significantly with regard to palmar flexion. Carpal alignment and ulnar stump stability were maintained well at one-year follow-up. The Sauvé-Kapandji procedure for treating disorders of the distal radioulnar joint DRUJ showed good results clinically and radiographically, irrespective of RA or OA.

  13. [Exposed distal radio-ulnar dislocation by dog bite. Reconstructive surgical technique using a soft tissue graft and a syndesmotic fixation implant. Case report].

    PubMed

    Vélez-de Lachica, J C; Brambila-Botello, C A; Valdez-Jiménez, L A

    2015-01-01

    The main function of the forearm is the supination, which is achieved largely through the biomechanical characteristics and stability of the distal radio-ulnar joint. There are several surgical techniques for the treatment of distal radio-ulnar dislocations isolated or associated with a fracture. We report the case of a canine trainer who was bitten at the wrist and distal forearm that came to the emergency department in where distal ulnar dislocation with muscle tendon exposure was diagnosed. Due to the offending agent and multiple soft tissue injuries the treatment with standard techniques was impossible. We describe the technique of treatment of this patient by placing autologous gracilis tendon graft, platelet rich plasma and two anchoring systems for ankle syndesmosis. Immobilization was maintained for six weeks with a subsequent rehabilitation and posterior valuation at 12, 18 and 28 weeks by the scale of MAYO, PRWE and DASH and finding a good result which implies the return to work and daily activities of the patient with minimal pain and limitation.

  14. 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

  15. 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

  16. 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.

  17. 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

  18. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

    PubMed Central

    Zieba, Jennifer; Zhang, Wenjuan; Chong, Jessica X.; Forlenza, Kimberly N.; Martin, Jorge H.; Heard, Kelly; Grange, Dorothy K.; Butler, Merlin G.; Kleefstra, Tjitske; Lachman, Ralph S.; Nickerson, Deborah; Regnier, Michael; Cohn, Daniel H.; Bamshad, Michael; Krakow, Deborah

    2017-01-01

    Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin. Cells transfected with the MYH3 missense mutations had reduced TGFβ signaling, revealing a regulatory role for embryonic myosin in the TGFβ signaling pathway. In wild-type mice, there was persistent postnatal expression of embryonic myosin in the small muscles joining the neural arches of the spine suggesting that loss of myosin function in these muscles contribute to the disease. Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions. PMID:28205584

  19. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.

    PubMed

    Zieba, Jennifer; Zhang, Wenjuan; Chong, Jessica X; Forlenza, Kimberly N; Martin, Jorge H; Heard, Kelly; Grange, Dorothy K; Butler, Merlin G; Kleefstra, Tjitske; Lachman, Ralph S; Nickerson, Deborah; Regnier, Michael; Cohn, Daniel H; Bamshad, Michael; Krakow, Deborah

    2017-02-16

    Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin. Cells transfected with the MYH3 missense mutations had reduced TGFβ signaling, revealing a regulatory role for embryonic myosin in the TGFβ signaling pathway. In wild-type mice, there was persistent postnatal expression of embryonic myosin in the small muscles joining the neural arches of the spine suggesting that loss of myosin function in these muscles contribute to the disease. Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions.

  20. Comparison of plain x-rays and computed tomography for assessing distal radioulnar joint inclination.

    PubMed

    Heiss-Dunlop, Wolfgang; Couzens, Gregory B; Peters, Susan E; Gadd, Karl; Di Mascio, Livio; Ross, Mark

    2014-12-01

    To compare the inclination of the distal radioulnar joint (DRUJ) on computed tomography (CT) and plain radiography (XR) in order to assess the effect of narrowing the range of inclination used in the original Tolat classification system to identify potentially problematic reverse oblique DRUJs. Two independent investigators compared the angle of inclination and Tolat type on matched wrist XRs in the coronal plane and CTs of the same patients with normal DRUJs. The degree of agreement between XR and CT was determined. Inter- and intra-observer reliabilities were calculated. The prevalence of the 3 inclination types of the DRUJs using Tolat's definition was recorded. Their original quantitative definition of the parallel Tolat type 1 DRUJ included all DRUJs with a measured inclination of ±10°. We noted and compared the resultant changes in prevalence of the different DRUJ types after narrowing the inclination range to ±5° and ±3°. Highly significant correlation between CT and XR measurements were found for both observers. Despite this, the limits of agreement between CT and XR in determining the sigmoid notch inclination was -9° to 11° (±2° standard deviations from the mean difference). When measured from the CTs and using Tolat's original algorithm, the prevalence of Tolat type 1 DRUJ was 47% (N = 34), type 2 was 51% (N = 37), and type 3 was 1% (N = 1). These percentages changed to 7% (N = 5) for type 1, 78% (N = 56) for type 2, and 15% (N = 11) for type 3 when applying narrower ranges of inclination. Narrowing the range of sigmoid notch inclination that defines type 1 (parallel) DRUJs when using CT provided a more accurate representation of the morphological types. It revealed an increased number of potentially problematic type 3 DRUJs. However, the statistical limits of agreement between CT and XR suggested that high-resolution 3-dimensional imaging is required to apply the new algorithm. Diagnostic II. Copyright © 2014 American Society for

  1. 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

  2. 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 ...

  3. 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 ...

  4. 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

  5. Arthroplasty of the distal ulna distal in managing patients with post-traumatic disorders of the distal radioulnar joint: measurement of quality of life☆

    PubMed Central

    Aita, Marcio Aurélio; Ibanez, Daniel Schneider; Saheb, Gabriel Cunha Barbosa; Alves, Rafael Saleme

    2015-01-01

    Objective To measure the quality of life and clinical–functional results from patients diagnosed with osteoarthrosis of the distal radioulnar joint who underwent surgical treatment using the technique of total arthroplasty of the ulna, with a total or partial Ascension® prosthesis of the distal ulna. Methods Ten patients were evaluated after 12 months of follow-up subsequent to total or partial arthroplasty of the distal ulna. All of them presented post-traumatic osteoarthrosis and/or chronic symptomatic instability of the distal radioulnar joint. The study was prospective. Seven patients had previously undergone wrist procedures (two cases with Darrach, three with Sauvé–Kapandji and two with ligament reconstruction of the fibrocartilage complex) and three presented fractures of the distal ulna that evolved with pain, instability and osteoarthrosis of the distal radioulnar joint. The following were assessed: quality of life (DASH scale); percentage degree of palm grip strength (kgf) and pronosupination range of motion in relation to the unaffected side; pain (VAS); return to work; subjective evaluation of radiography; and complications. Results The patients presented a mean range of motion of 174.5° (normal side: 180°). Quality of life was analyzed by applying the DASH questionnaire and the mean value found was 5.9. The mean pain score using the VAS was 2.3. The mean degree of palm grip strength (kgf) was 50.7, which represented 90.7% of the strength on the unaffected side. The complication rate was 10%: this patient presented slight dorsal instability of the ulna and persistent pain, and did not return to work. This patient is still being followed up in the outpatient clinic and occupational therapy sector, with little improvement. He does not wish to undergo a new procedure. The mean length of follow-up was 16.8 months, with a minimum of 10 and maximum of 36 months. Conclusion This concept is subject to the test of time. Implantation of a prosthesis is a

  6. Congenital symmastia revisited.

    PubMed

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans E; Bonde, Christian

    2012-12-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient. Congenital symmastia was identified as a distinct deformation using a review of the literature and a theoretical model. We analysed the malady using a three-step principle, formulated by Blondeel, which describes the breast as a 'footprint', 'conus' and 'skin-envelope'. To date, few papers on congenital symmastia have been published, most of which focus on the application of various surgical approaches. We examined the literature and evaluated the procedures used, and are presenting two recent cases of congenital symmastia as examples. By combining review and analysis we offer a rational treatment practice. The analysis showed that the optimal treatment begins by correcting the 'footprint', removing the excess 'conus' over the sternum, and finally reattaching the 'skin-envelope' to the sternum to recreate the normal medial border of the 'footprint'. Thus far, the two most common approaches used to treat congenital symmastia are: reduction mammaplasty and liposuction. By combining the Blondeel analysis with a procedural review, we developed a flow chart to offer a possible treatment practice. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  7. Congenital malaria in China.

    PubMed

    Tao, Zhi-Yong; Fang, Qiang; Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-03-01

    Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured with antimalarial drugs such as chloroquine

  8. Congenital Malaria in China

    PubMed Central

    Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-01-01

    Abstract Background Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum–endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax–endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Methods/Principal Findings Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured

  9. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  10. Results of the modified Sauvé-Kapandji procedure in the treatment of chronic posttraumatic derangement of the distal radioulnar joint.

    PubMed

    Lamey, D M; Fernandez, D L

    1998-12-01

    We reviewed the results of a modified Sauvé-Kapandji procedure with tenodesis of the flexor carpi ulnaris to the carpus in eighteen patients who had chronic derangement of the distal radioulnar joint. There were fourteen men and four women. The mean supination of the forearm had improved from 16 degrees (range, 0 to 75 degrees) preoperatively to 76 degrees (range, 40 to 90 degrees) at the time of the latest follow-up, and the mean pronation had improved from 42 degrees (range, 0 to 80 degrees) preoperatively to 81 degrees (range, 60 to 90 degrees) at the time of follow-up. Pain relief was satisfactory, and the mean grip strength had improved from 36 percent of that on the unaffected side preoperatively to 73 percent at the time of follow-up. One patient had moderate pain over the ulnar stump associated with residual volar instability of the proximal ulnar segment, and he had a tenodesis of the extensor carpi ulnaris as a second procedure. Another patient had mild instability of the stump only after he had a second operation, which was an excision of a bone mass (ossification) in the resected area. The ulnar stump was stable in sixteen patients. Eight of the eleven patients who had performed heavy manual labor before the injury were able to return to work full-time without restrictions. According to a modification of the wrist-scoring system of the Mayo Clinic, at a mean of four years and two months (range, two years to eight years and four months), six patients had an excellent result; seven, a good result; four, a fair result; and one, a poor result. On the basis of our findings, we believe that the index operation is an excellent salvage procedure for the treatment of chronic posttraumatic derangement of the distal radioulnar joint, especially when nonoperative treatment has been unsuccessful and rotation of the forearm is severely limited.

  11. Treatment of distal radioulnar joint disorders with a modified Sauvé-Kapandji procedure: long-term outcome with special attention to the DASH Questionnaire.

    PubMed

    Zimmermann, Robert; Gschwentner, Martin; Arora, Rohit; Harpf, Christoph; Gabl, Markus; Pechlaner, Sigurd

    2003-07-01

    An intact distal radioulnar joint (DRUJ) is essential for normal functioning of the upper limb. Osteoarthritis of the DRUJ often leads to ulnar wrist pain, limitation of forearm rotation and reduced grip strength, all of which limit activities of daily living. Once the joint is damaged, salvage procedures are recommended. Between 1986 and 1996 a modified Sauvé-Kapandji procedure was performed in 117 patients with painfully limited forearm rotation and osteoarthritis of the distal radioulnar joint (DRUJ). Of the 117 patients, 73 women and 32 men, whose ages at operation ranged from 22 to 74 years (average 58 years), were retrospectively reviewed clinically and radiologically 8 years (range 5-12 years) after the operation. The DASH questionnaire was used with 53 patients, 43 patients were accepted for the study, and 10 were excluded. Forearm rotation improved in all patients, ulnar wrist pain was reduced in 97% of the patients, and 9% had mild pain at the proximal ulnar stump. Grip strength improved from a preoperative mean of 38% to a postoperative mean of 55% compared with the contralateral side. The mean DASH score was 28 points (range 0-53 points). In all cases the arthrodesis fused within 8 weeks. The radiographs showed approximation between the proximal ulna stump and the radius compared with the preoperative situation in 74% of the patients. Our clinical and radiological findings suggest that the Sauvé-Kapandji procedure is indicated in symptomatic, non-reconstructable disorders of the DRUJ. The DASH questionnaire provides a general view of the functional outcome after the Sauvé-Kapandji procedure. The DASH questionnaire is very helpful in evaluating the effect of the Sauvé-Kapandji procedure on the entire upper limb.

  12. Biomechanical evaluation of the dynamic radioulnar convergence after ulnar head resection, two soft tissue stabilization methods of the distal ulna and ulnar head prosthesis implantation.

    PubMed

    Sauerbier, Michael; Hahn, Michael E; Berglund, Lawrence J; An, Kai-Nan; Berger, Richard A

    2011-01-01

    The biomechanical performance of the Darrach procedure, its stabilizing methods and the effectiveness of an ulnar head prosthesis was evaluated in this experiment. The purpose of this study was to: (1) analyze the dynamic effects of the resection of the distal ulna on radioulnar convergence; and (2) evaluate the mechanical performance of two soft tissue stabilizing procedures (pronator quadratus advancement flap and ECU/FCU tenodesis) for the unstable distal ulnar stump and the implantation of an ulnar head prosthesis (uHead) following a distal ulnar resection (Darrach procedure) on radioulnar convergence. With a dynamic PC-controlled forearm simulator, cadaveric forearm rotation was actively and passively performed while simultaneously loading the relevant muscles. The resultant total forearm torque and the three-dimensional kinematics of the ulna, radius and third metacarpal were simultaneously recorded in seven fresh-frozen cadaver upper extremities. The resection of the distal ulna created an extreme instability of the forearm with movement of the radius toward the ulna (0.92-0.38 cm compared to the intact state) in each particular loading condition. The implantation of the ulnar head prosthesis effectively restored the stability of the DRUJ by simulating the geometry of the ulnar head. There were significantly better results after the implantation of the prosthesis compared with the Darrach and the soft tissue stabilization procedures. This study provides laboratory validity to the option of implanting an ulnar head endoprosthesis as an attempt to stabilize the distal forearm with instability after Darrach resection in lieu of performing soft tissue stabilization techniques.

  13. Biomechanical comparison of transosseous re-fixation of the deep fibres of the distal radioulnar ligaments versus deep and superficial fibres: a cadaver study.

    PubMed

    Spies, Christian K; Niehoff, Anja; Unglaub, Frank; Müller, Lars P; Langer, Martin F; Neiss, Wolfram F; Oppermann, Johannes

    2016-02-01

    We hypothesized that the re-fixation of the deep and superficial fibres of the distal radioulnar ligaments provide improved stability compared to reconstruction of the deep fibres alone. Fourteen fresh-frozen cadaver upper extremities were used for biomechanical testing. Transosseous re-fixation of the deep fibres of the distal radioulnar ligaments alone (single mattress suture group; n = 7) was compared to the transosseous re-attachment of the deep and superficial fibres (double mattress suture group; n = 7). Cyclic load application provoked palmar translation of the radius with respect to the rigidly affixed ulna. Creep, stiffness, and hysteresis were obtained from the load-deformation curves, respectively. Testing was done in neutral forearm rotation, 60° pronation, and 60° supination. The re-fixation techniques did not differ significantly regarding the viscoelastic parameters creep, hysteresis, and stiffness. Several significant differences of one cycle to the consecutive one within each re-fixation group could be detected especially for creep and hysteresis. No significant differences between the different forearm positions could be detected for each viscoelastic parameter. The re-fixation techniques did not differ significantly regarding creep, hysteresis, and stiffness. This means that the additional re-attachment of the superficial fibres may not provide greater stability to the DRUJ. Bearing in mind that the study was a cadaver examination with a limited number of specimens we may suppose that the re-attachment of the superficial fibres seem to be unnecessary. A gradual decline of creep and hysteresis from first to last loading-unloading cycle is to be expected and typical of ligaments which are viscoelastic.

  14. What Are Congenital Heart Defects?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  15. Types of Congenital Heart Defects

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  16. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.

  17. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

    ... of infancy Great Ormond Street Hospital for Children (UK) Merck Manual Consumer Version: Hypoglycemia Orphanet: Congenital isolated ... Diseases Congenital Hyperinsulinism International The Children's Hyperinsulinism Fund (UK) GeneReviews (1 link) Familial Hyperinsulinism ClinicalTrials.gov (1 ...

  18. Congenital tracheobronchial stenosis.

    PubMed

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Leber's congenital amaurosis.

    PubMed

    Mizuno, K; Takei, Y; Sears, M L; Peterson, W S; Carr, R E; Jampol, L M

    1977-01-01

    An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

  20. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

    Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.

  1. [Congenital chloride diarrhea].

    PubMed

    Contreras, Mónica; Rocca, Ana; Benedetti, Laura; Kakisu, Hisae; Delgado, Sabrina; Ruiz, José Antonio

    2005-01-01

    Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.

  2. Congenital brain infections.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Davila, Jorge; Castillo, Mauricio

    2014-06-01

    Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.

  3. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  4. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  5. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.

  6. Common Congenital Anomalies

    PubMed Central

    Lowry, R. B.

    1985-01-01

    Congenital anomalies account for a substantial proportion of childhood morbidity and mortality. They have become proportionately larger because of the decline of such other categories as infections or birth trauma. Approximately 3% of newborns have a serious handicapping or potentially lethal condition; in longterm studies the frequency is much higher. There is no good evidence to suggest that the rates of congenital anomalies are increasing, although this is a common perception. This article discusses diagnosis and management (especially genetic implications) of heart defects, neural tube defects, orofacial clefting, dislocated hip, clubfoot, and hypospadias. PMID:21274150

  7. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  8. Adult Congenital Heart Association

    MedlinePlus

    ... my congenital heart … Read More Let's Talk About Love... BY Kelly DiMaggio Being in love and in a relationship is one of the ... are born they have … Read More Learning to Love the Scar BY Clare Almand I wrote about ...

  9. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  10. Congenital sternal cleft.

    PubMed

    Biswas, G; Khandelwal, N K; Venkatramu, N K; Chari, P S

    2001-04-01

    A cleft of the sternum is a rare congenital anomaly. We present a case of a sternal cleft in a 7-year-old boy. A split iliac bone graft covered with the sternocostal portion of a pectoralis major flap was used to reconstruct the defect. Copyright 2001 The British Association of Plastic Surgeons.

  11. Fetal congenital lobar emphysema.

    PubMed

    Chia, Chun-Chieh; Huang, Soon-Cen; Liu, Min-Chang; Se, Tung-Yi

    2007-03-01

    To report a rare fetal congenital lung anomaly characterized by over inflation of a pulmonary lobe. A 28-year-old systemic lupus erythematous mother, gravida 1 para 0, who had normal prenatal care in our department, was admitted for labor pain and an abnormal fetal heart location was noted incidentally during labor. The baby showed rib retraction in room air but no obvious cyanotic change after delivery. Both the fetus chest X-ray and ultrasound showed a hyperechogenic tumor in the left thoracic cavity with a right-side-shifted heart and trachea. Computed tomography showed a hypodense and multiseptal tumor in the left thoracic cavity with right-sided shift of the heart and trachea. It was a soft, solid tumor in the parenchyma of the left lung and the histopathology confirmed it to be benign congenital lobar emphysema. The favorable outcome in both asymptomatic and mildly symptomatic children suggests that a nonsurgical approach should be considered for these patients.

  12. Congenital Orbital Teratoma.

    PubMed

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks' gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor.

  13. [Congenital esophageal diverticulum].

    PubMed

    Belío-Castillo, C; Bracho-Blanchet, E; Blanco-Rodríguez, G

    1990-08-01

    The congenital or acquired variety of esophageal diverticulum is a rare childhood disease. Reported is a case-study which deals with a five year old patient who arrived at our hospital complaining of a constricture at the cricopharyngeal level. A month later he returned to the hospital with dysphasia and regurgitation; the X-rays and endoscopic diagnosis showed stenosis of the esophagus and the presence of an esophageal diverticulum. Esophageal dilatations were carried out until an acceptable esophageal diameter was reached. Later on, the surgical removal of the diverticulum was performed without any complications. The histopathological study showed the congenital nature of the diverticulum. The patient's recovery went well and is currently considered as cured.

  14. Update on congenital glaucoma

    PubMed Central

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  15. Congenital omental cyst

    PubMed Central

    Gupta, Rakesh Kumar; Sah, Suresh; Sah, Panna Lal; Shah, Birendra Prasad

    2012-01-01

    Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate preoperative diagnosis. We present a case of congenital omental cyst in a 3-year-old girl who presented with huge abdominal distension. We performed diagnostic examinations including ultrasonography and CT of the abdomen. An omental cyst was diagnosed because of its position and connection to the surrounding tissues. She was operated and cyst was excised completely. Histological examination revealed an omental cyst with endothelial lining and haemorrhagic fluid inside. She had an uneventful recovery and doing well, without recurrence at follow-up of 24 months. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a surprise upon laparotomy and result in proper management. PMID:22865812

  16. Congenital Orbital Teratoma

    PubMed Central

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks’ gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor. PMID:28275597

  17. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    PubMed

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  18. Congenital varicella syndrome.

    PubMed

    Sasidharan, C K; Anoop, P

    2003-01-01

    The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall.

  19. Congenital amaurosis of Leber.

    PubMed

    Gillespie, F D

    1966-05-01

    In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed. Whether the disease is a definite clinical or genetic entity and whether it might be an agenesis or an abiotrophy, or both, were discussed.

  20. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment.

  1. Leber congenital amaurosis.

    PubMed

    Perrault, I; Rozet, J M; Gerber, S; Ghazi, I; Leowski, C; Ducroq, D; Souied, E; Dufier, J L; Munnich, A; Kaplan, J

    1999-10-01

    Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein implicated in the phototransduction cascade, especially in the recovery of the dark state after the excitation process of photoreceptor cells by light stimulation. In 1997, mutations in a second gene were reported in LCA, the RPE65 gene, which is the first specific retinal pigment epithelium gene. The protein RPE65 is implicated in the metabolism of vitamin A, the precursor of the photoexcitable retinal pigment (rhodopsin). Finally, a third gene, CRX, implicated in photoreceptor development, has been suspected of causing a few cases of LCA. Taken together, these three genes account for only 27% of LCA cases in our series. The three genes encode proteins that are involved in completely different physiopathologic pathways. Based on these striking differences of physiopathologic processes, we reexamined all clinical physiopathological discrepancies and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations are responsible for congenital severe but progressive rod-cone dystrophy. It is of tremendous importance to confirm and to refine these genotype-phenotype correlations on a large scale in order to anticipate the final outcome in a blind infant, on the one hand, and to further guide genetic studies in older patients on the other hand.

  2. Myopathology in congenital myopathies.

    PubMed

    Sewry, C A; Wallgren-Pettersson, C

    2017-02-01

    Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth while others have a milder, moderately progressive or nonprogressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner, or arise de novo. Muscle biopsies show characteristic pathological features such as nemaline rods/bodies, cores, central nuclei or caps. Small type 1 fibres expressing slow myosin are a common feature and may sometimes be the only abnormality. Small cores (minicores) devoid of mitochondria and areas showing variable myofibrillar disruption occur in several neuromuscular disorders including several forms of congenital myopathy. Muscle biopsies can also show more than one structural defect. There is considerable clinical, pathological and genetic overlap with mutations in one gene resulting in more than one pathological feature, and the same pathological feature being associated with defects in more than one gene. Increasing application of whole exome sequencing is broadening the clinical and pathological spectra in congenital myopathies, but pathology still has a role in clarifying the pathogenicity of gene variants as well as directing molecular analysis. © 2016 British Neuropathological Society.

  3. Congenital hearing loss.

    PubMed

    Korver, Anna M H; Smith, Richard J H; Van Camp, Guy; Schleiss, Mark R; Bitner-Glindzicz, Maria A K; Lustig, Lawrence R; Usami, Shin-Ichi; Boudewyns, An N

    2017-01-12

    Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

  4. Severe congenital neutropenias.

    PubMed

    Skokowa, Julia; Dale, David C; Touw, Ivo P; Zeidler, Cornelia; Welte, Karl

    2017-06-08

    Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil granulocytes. Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months of life. The most frequent pathogenic defects are autosomal dominant mutations in ELANE, which encodes neutrophil elastase, and autosomal recessive mutations in HAX1, whose product contributes to the activation of the granulocyte colony-stimulating factor (G-CSF) signalling pathway. The pathophysiological mechanisms of these conditions are the object of extensive research and are not fully understood. Furthermore, severe congenital neutropenias may predispose to myelodysplastic syndromes or acute myeloid leukaemia. Molecular events in the malignant progression include acquired mutations in CSF3R (encoding G-CSF receptor) and subsequently in other leukaemia-associated genes (such as RUNX1) in a majority of patients. Diagnosis is based on clinical manifestations, blood neutrophil count, bone marrow examination and genetic and immunological analyses. Daily subcutaneous G-CSF administration is the treatment of choice and leads to a substantial increase in blood neutrophil count, reduction of infections and drastic improvement of quality of life. Haematopoietic stem cell transplantation is the alternative treatment. Regular clinical assessments (including yearly bone marrow examinations) to monitor treatment course and detect chromosomal abnormalities (for example, monosomy 7 and trisomy 21) as well as somatic pre-leukaemic mutations are recommended.

  5. [Congenital insensitivity to pain].

    PubMed

    Popko, Janusz; Karpiński, Michał; Guszczyn, Tomasz

    2014-02-01

    Congenital insensitivity to pain belongs to rare diseases called hereditary sensory neuropathy (HSN). The disturbance of sense and secondary harms are creating clinical picture. The aim of this report was to describe therapeutic problems with which we met with a three siblings with congenital insensitivity to pain. The authors have described three children with congenital insensitivity to pain. The disease was diagnosed at the age of 3-5. These children painlessly have broken their lower limbs. These fractures were late diagnosed what resulted in a badly healed deformation of legs. For this reason, the right knee of the oldest boy had to be stiffened. This boy had also late diagnosed the left hip luxation, and hematomas had arisen, which become filled with pus. The boy was in sepsis and a dramatic life-and-death struggle was performed. A purulent focuses were removed from abdomen and femoral head was also resected. The other two siblings had fractures and infections, but not such severe as the oldest boy. It is well known that a causal treatment of this disease in unknown. Patients must learn to avoid mechanical and thermal trauma. It is the only way to prevent complications of this disease.

  6. Congenital abnormalities and multiple sclerosis.

    PubMed

    Ramagopalan, Sreeram V; Guimond, Colleen; Criscuoli, Maria; Dyment, David A; Orton, Sarah-Michelle; Yee, Irene M; Ebers, George C; Sadovnick, Dessa

    2010-11-16

    There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a non-fatal congenital anomaly. We investigated whether or not congenital anomalies are associated with MS in a population-based cohort. We identified 7063 MS index cases and 2655 spousal controls with congenital anomaly information from the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS). The frequency of congenital anomalies were compared between index cases and controls. No significant differences were found. Congenital anomalies thus do not appear to be associated with MS. However, we did not have complete data on types and severity of congenital anomalies or on maternal birth history and thus this study should be regarded as preliminary.

  7. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  8. [Congenital knee dislocation: case report].

    PubMed

    Arvinius, C; Luque, R; Díaz-Ceacero, C; Marco, F

    2016-01-01

    Congenital knee dislocation is an infrequent condition with unknown etiology. In some cases it occurs as an isolated condition, while in others it coexists with associated conditions or syndromes. The treatment of congenital knee dislocation is driven by the severity and flexibility of the deformity. The literature includes from serial casting or the Pavlik harness to quadriceps tendon plasty or femoral osteotomies. We report herein the case of a congenital dislocation treated with serial casting with a good outcome.

  9. Living with a Congenital Heart Defect

    MedlinePlus

    ... congenital heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... 2013, in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  10. Surgical correction of Madelung’s deformity by combined corrective radioulnar osteotomy: 14 cases with four-year minimum follow-up

    PubMed Central

    Abid, Abdelaziz; Accadbled, Frank; Knör, Gorka; Sales de Gauzy, Jérôme; Cahuzac, Jean-Philippe

    2008-01-01

    Fourteen wrists in 11 girls, mean age 13.3 years (range 9–16) at surgery, were treated for Madelung’s deformity. The presenting complaint was incapacitating pain. All were treated by radial closing wedge osteotomy and ulnar shortening osteotomy. The dorsal retinaculum was also surgically repaired in six cases. At a mean follow-up of 5.1 years (range 4–8.75), we observed improved range of motion in both flexion/extension and pronation/supination and absence of pain during daily activity. Radiographically, positioning of the distal radial articular surface and lunate subsidence were improved. Union was obtained after all osteotomies without secondary procedures. Posterior displacement of the ulnar head persisted in two wrists. Combined radioulnar osteotomy restored the anatomy to as near normal as possible. This technique provides satisfactory and encouraging results and does not compromise the surgical future of the wrist. However, longer follow-up is required to assess recurrence or possible long-term degenerative consequences. PMID:19099303

  11. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2016-12-08

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  12. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  13. Congenital Horner's syndrome.

    PubMed

    Weinstein, J M; Zweifel, T J; Thompson, H S

    1980-06-01

    Patients with congenital Horner's syndrome (who seemed, on the basis of their clinical history and the distribution fo anhidrosis, to have a preganglionic lesion) had partial mydriatic failure with hydroxyamphetamine hydrobromide and a supersensitivity to phenylephrine hydrochloride. This apparent paradox can be readily explained by postulating an aorthograde transsynaptic dysgenesis of the postganglionic neuron, such as has been demonstrated in the sympathetic nervous system of newborn animals. The failure of hydroxyamphetamine to cause mydriasis indicates damage to the postganglionic sympathetic neuron, but in the neonate this damage may be secondary to a preganglionic lesion.

  14. Congenital syphilis: an unusual presentation.

    PubMed

    Dzebolo, N N

    1980-08-01

    Congenital syphilis was discovered in a neonate with the unusual radiographic presentation of unilateral involvement of three bones showing lytic lesions and periostitis. Congenital syphilis should be considered in a newborn infant with these radiographic manifestations, especially when a suggestive history is obtained.

  15. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro.

  16. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  17. [Genetics of congenital deafness].

    PubMed

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  18. Congenital stationary night blindness presenting as Leber's congenital amaurosis.

    PubMed

    Weleber, R G; Tongue, A C

    1987-03-01

    Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.

  19. Hybrid interventional procedures in congenital heart disease.

    PubMed

    Holoshitz, Noa; Kenny, Damien; Hijazi, Ziyad M

    2014-01-01

    The evolution of congenital cardiac surgery has seen significant innovative advances in collaborative efforts between congenital cardiac surgeons and interventionalists to provide the least invasive intervention with the greatest hemodynamic benefit for patients with congenital heart disease. This review looks at how this collaborative approach has evolved and is being applied to treat a number of congenital conditions across the age ranges.

  20. Characterizing congenital amusia.

    PubMed

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  1. 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.

  2. Congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Bornstein, Stefan R

    Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

  3. [Congenital lobar emphysema].

    PubMed

    Belio-Castillo, C; Prado-Pallares, M; Blanco-Rodríguez, G

    1991-05-01

    This article includes the way cases of congenital lobe emphysema were treated at the Hospital Infantil de México "Federico Gómez" during 1971 to 1989. A total of 17 cases were gathered, 13 were males and 4 were females; admittance age varied from 13 days to 3 years. The children's main symptoms were respiratory failure and cyanosis. The diagnosis was enhanced by a chest X-ray where lobe hyperclarity was detected, as well as a deviation of the mediastinum and a collapsed lung. A lobectomy was performed in all cases. The upper left lobe was seen to be the most affected. Two of the children died. It is important to recognize this disease early on and conduct prompt surgical treatment.

  4. Congenital macroglossal angiodysplasia ("Lymphangioendotheliomatosis").

    PubMed

    Bakaeen, G; Winkler, S; Bakaeen, L; Rehani, L A; Katsetos, C D

    2000-09-01

    A case of congenital lingual angiodysplasia with macroglossia in a 5-year-old girl is presented. A diffusely enlarged tongue was present at birth and continued to grow as the child aged. It was accompanied by impaired speech, difficulty in eating and breathing, and sleep apnea, necessitating surgical intervention. The fundamental lesion represents a complex vascular malformation of the lymphangioma-hemangioma type, involving extensively the deep musculature of the tongue. Multifocal and multicentric cavernous lymphangioma-like and hemangioma-like areas merge with benign angioendotheliomatous-like foci in a background of variable muscle degeneration and marked fibrosis. Neither a borderline nor an overtly malignant vasoformative neoplasm was present. Because of its distinctively widespread, multicentric intramuscular distribution, this lesion may be construed as a diffuse variant of lingual lymphangioma-hemangioma malformation, closely resembling a previously described case of macroglossal lymphangioendotheliomatosis.

  5. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  6. Nonunion of distal radius fracture and distal radioulnar joint injury: a modified Sauvé-Kapandji procedure with a cubitus proradius transposition as autograft.

    PubMed

    Villamor, Angel; Rios-Luna, Antonio; Villanueva-Martínez, Manuel; Fahandezh-Saddi, Homid

    2008-12-01

    The Sauvé-Kapandji (SK) procedure is indicated in distal radius nonunion or malunion and distal radioulnar joint (DRUJ) instability. It can also be used to treat the rheumatoid wrist with severe degenerative changes in the DRUJ. The main objective is to allow a pain-free range of movement. We present a patient with rheumatoid arthritis and distal radius nonunion who, after three operations, was treated with the SK procedure. The clinical and radiological results were excellent. A 53-year-old woman diagnosed with rheumatoid arthritis fell on her forearm at home 2 years ago. Examination at an outpatient clinic revealed a distal radius fracture classified as type V according to the Frykman classification. She had been operated three times with open reduction internal fixation using a plate, screws, and bone allograft. She came to our institution with a distal radius nonunion, positive post-traumatic ulnar variance, and ulnar nerve paresis. The range of movements was 20 degrees -10 degrees flexion-extension and 40 degrees -30 degrees pronation-supination, and she needed daily fentanyl. We performed a modified SK procedure with an autologous iliac crest bone graft and ulnar bone graft from the osteotomy area (cubitus proradius), bone morphogenetic protein, and a low profile distal radius plate. After 1 year of follow-up, the distal radius fracture has healed and the wrist is pain-free with a complete range of movement in flexion-extension and pronation-supination. The main indication for the SK procedure is post-traumatic positive ulnar variance and associated ulnocarpal impaction. The cubitus proradius bone graft transposition is an interesting technical note that makes this case a challenge for skilled orthopedic hand surgeons.

  7. [Kapandji-Sauvé procedure for chronic disorders of the distal radioulnar joint with special regard to the long-term results].

    PubMed

    Daecke, W; Martini, A K; Streich, N A

    2003-05-01

    We present the preliminary results of a retrospective study on 56 patients who underwent the Kapandji-Sauvé procedure for chronic disorders of the distal radioulnar joint (DRUJ). Outcome was assessed with special regard to the long-term results. The average follow-up was 5.9 years (1 to 12 years). 15 of the 56 operations were performed before 1996. Most procedures were performed because of secondary arthrosis or chronic dislocation of the DRUJ after distal radius fracture. Patients were assessed for pain, range of motion of wrist and forearm and radiological features. The DASH score and Mayo wrist score were used. Pain was improved in 94 % of the patients, but only 53 % were free of symptoms during heavy manual labour concerning the operated site. In four cases symptoms of ulnar impingement were found. Improvement in range of motion of wrist and forearm was significant. The post-operative DASH score was 22.6 +/- 20.0 and the Mayo wrist score was 79.5 +/- 14.6. One non-union of the DRUJ with consecutive fracture of the fixation screw and an algodystrophy in another case were found as postoperative complications. The only long-term complication consisted of a beginning humeroradial arthrosis ten years after the operation. The results demonstrate high patient satisfaction and reliable improvement in range of motion. Our results confirm the Kapandji-Sauvé procedure to be a reliable salvage procedure for arthrosis or chronic dislocation of the DRUJ even after long-term follow up.

  8. Congenital heart defects and medical imaging.

    PubMed

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

  9. Genetics Home Reference: congenital afibrinogenemia

    MedlinePlus

    ... Neerman-Arbez M. FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Customer Support USA.gov ...

  10. Photoaversion in Leber's congenital amaurosis.

    PubMed

    Traboulsi, E I; Maumenee, I H

    1995-03-01

    Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagnosed clinically with achromatopsia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segment abnormalities. The photopic and scotopic responses of the electroretinogram (E R G) were nonrecordable in both patients indicating involvement of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent clinical feature in some patients with Leber's congenital amaurosis. The E R G clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.

  11. Why Search for Congenital Defects?

    PubMed Central

    Collins, John F.

    1966-01-01

    The causation of congenital malformation is receiving increased study. In Canada, epidemiologic surveys are being planned, based upon the institution of Provincial Registries to which physicians and other agencies will voluntarily report cases coming to their attention. The literature in regard to prevalence studies of congenital cardiac defects in school children is reviewed. Over the past 25 years, studies employing the proposed technique demonstrated a rising trend, from 1.4 per 1000 to 2.6 per 1000. By contrast, specific surveys for congenital cardiac defect carried out by expert personnel using radiographs and electrocardiographs, resulted in essentially uniform rates, approximating 5 to 6 per 1000. It is concluded that the latter is a superior technique of epidemiologic survey over the “Central Registry” method, and should command a due proportion of health resources directed towards congenital malformation research. PMID:5914837

  12. Congenital Syngnathia; Turmoils and Tragedy

    PubMed Central

    Sarin, Yogesh Kumar; Raj, Prince; Arya, Mona; Dali, Jaspal Singh

    2017-01-01

    Congenital syngnathia is an extremely rare condition with no standardized treatment. We hereby report a case highlighting the difficulties faced in its management and the postoperative complications. PMID:28083498

  13. [Congenital Adrenal Hyperplasia in Adults].

    PubMed

    Vrbíková, Jana

    2016-01-01

    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  14. Congenital abnormalities and selective abortion.

    PubMed

    Seller, M J

    1976-09-01

    The technique of amniocentesis, by which an abnormal fetus can be detected in utero, has brought a technological advance in medical science but attendant medical and moral problems. Dr Seller describes those congenital disabilities which can be detected in the fetus before birth, for which the "remedy" is selective abortion. She then discusses the arguments for and against selective abortion, for the issue is not simple, even in the strictly genetic sense of attempting to ensure a population free of congenital abnormality.

  15. A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.

    PubMed

    Kohmoto, Tomohiro; Naruto, Takuya; Watanabe, Miki; Fujita, Yuji; Ujiro, Sae; Okamoto, Nana; Horikawa, Hideaki; Masuda, Kiyoshi; Imoto, Issei

    2017-04-01

    Mesomelia-synostoses syndrome (MSS) is a rare, autosomal-dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non-recurrent deletion at 8q13 that always encompasses two coding-genes, SULF1 and SLCO5A1. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non-allelic homologous recombination (NAHR) in at least two analyzed cases. We conducted targeted gene panel sequencing and subsequent array-based copy number analysis in an 11-year-old undiagnosed Japanese female patient with multiple congenital anomalies that included mesomelic limb shortening and detected a novel 590 Kb deletion at 8q13 encompassing the same gene set as reported previously, resulting in the diagnosis of MSS. Breakpoint sequences of the deleted region in our case demonstrated the first LINE-1s (L1s)-mediated unequal NAHR event utilizing two distant L1 elements as homology substrates in this disease, which may represent a novel causative mechanism of the 8q13 deletion, expanding the range of mechanisms involved in the chromosomal rearrangements responsible for MSS.

  16. An Overview of Congenital Myopathies.

    PubMed

    Mah, Jean K; Joseph, Jeffrey T

    2016-12-01

    This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies. Genotype and phenotype correlations are hampered by the diverse clinical variability of the genes responsible for congenital myopathies, ranging from a severe neonatal course with early death to mildly affected adults with late-onset disease. An increasing number of genes have been identified, which, in turn, are associated with overlapping morphologic changes in the myofibers. Precise genetic diagnosis has important implications for disease management, including family counseling; avoidance of anesthetic-related muscle injury for at-risk individuals; monitoring for potential cardiac, respiratory, or orthopedic complications; as well as for participation in clinical trials or potential genetic therapies. Collaboration with neuromuscular experts, geneticists, neuroradiologists, neuropathologists, and other specialists is needed to ensure accurate and timely diagnosis based on clinical and pathologic features. An integrated multidisciplinary model of care based on expert-guided standards will improve quality of care and optimize outcomes for patients and families with congenital myopathies.

  17. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  18. [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.

  19. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  20. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action.

  1. [Penile congenital abnormalities].

    PubMed

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  2. [Congenital aortic stenosis].

    PubMed

    Yamaguchi, M

    2001-08-01

    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

  3. Canine congenital portosystemic encephalopathy.

    PubMed

    Maddison, J E

    1988-08-01

    The case records of 21 dogs with congenital portosystemic encephalopathy are reviewed. The disorder was most common in Australian cattledogs (blue heelers; 8 cases), Old English sheepdogs (3 cases) and Maltese terriers (3 cases). Extra-hepatic shunts occurred in small breeds, with the exception of 1 cattledog, while intra-hepatic shunts occurred in the medium to large breeds. The most common clinical pathology abnormalities were abnormal ammonia tolerance, mild to moderate increases in plasma alanine aminotransferase or alkaline phosphatase concentrations, decreased total serum protein concentrations, increased fasting ammonia concentrations and ammonium biurate crystalluria. Radiological examination revealed that all the dogs had a small liver. The kidneys were enlarged in 5 of 10 dogs in which kidney size could be estimated. Surgical ligation of an extra-hepatic shunt was successful in 2 of 4 dogs in which it was attempted. Medical management resulted in alleviation of clinical signs in 5 of 8 dogs. The period of successful treatment ranged from a few months to over a year.

  4. [Congenital cataract: general review].

    PubMed

    Roche, O; Beby, F; Orssaud, C; Dupont Monod, S; Dufier, J L

    2006-04-01

    Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

  5. [Congenital insensitivity to pain].

    PubMed

    Danziger, N; Willer, J-C

    2009-02-01

    Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve histopathology allowed to demonstrate that CIP was almost always a manifestation of hereditary sensory and autonomic neuropathies (HSAN) involving the small-calibre (A-delta and C) nerve fibres which normally transmit nociceptive inputs along sensory nerves. Identification of the genetic basis of several clinical subtypes has led to a better understanding of the mechanisms involved, emphasizing in particular the crucial role of nerve growth factor (NGF) in the development and survival of nociceptors. Recently, mutations of the gene coding for the sodium channel Nav1.7--a voltage-dependent sodium channel expressed preferentially on peripheral nociceptors and sympathetic ganglia--have been found to be the cause of CIP in patients showing a normal nerve biopsy. This radical impairment of nociception mirrors the hereditary pain syndromes associated with "gain of function" mutations of the same ion channel, such as familial erythromelalgia and paroxysmal extreme pain disorder. Future research with CIP patients may identify other proteins specifically involved in nociception, which might represent potential targets for chronic pain treatment. Moreover, this rare clinical syndrome offers the opportunity to address interesting neuropsychological issues, such as the role of pain experience in the construction of body image and in the empathic representation of others' pain.

  6. Congenital lipoid adrenal hyperplasia

    PubMed Central

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  7. Congenital prothrombin deficiency.

    PubMed

    Lancellotti, Stefano; De Cristofaro, Raimondo

    2009-06-01

    Prothrombin deficiency is among the rarest inherited coagulation disorders, with a prevalence of approximately 1:2,000,000. Two main phenotypes can be distinguished: (1) hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of activity and antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. In some cases, hypoprothrombinemia associated with dysprothrombinemia was also described in compound heterozygous defects. No living patient with undetectable plasma prothrombin has been reported to date. Prothrombin is encoded by a gene of approximately 21 kb located on chromosome 11 and containing 14 exons. Forty different mutations have been identified and characterized in prothrombin deficiency. Many of them surround the catalytic site, whereas another "hot spot" is localized in the recognition domain called anion binding exosite I, also called fibrinogen recognition site. Recently, mutations were identified also in the Na (+)-binding loop and in the light A-chain of thrombin. Most hypoprothrombinemia-associated mutations are missense, but there are also nonsense mutations leading to stop codons and one single nucleotide deletion. Finally, the main aspects of clinical manifestations and therapy of congenital prothrombin deficiency are presented and discussed.

  8. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  9. Congenital parasitic infections: a review.

    PubMed

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  10. Prenatal education for congenital toxoplasmosis.

    PubMed

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2009-01-21

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (November 2007), CENTRAL (The Cochrane Library 2007, Issue 3), MEDLINE (1966 to November 2007), EMBASE (1980 to November 2007), CINAHL (1982 to November 2007), LILACS (1982 to November 2007) IMEMR (1984 to November 2007), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials (RCT) of all types of prenatal education on toxoplasmosis infection during pregnancy. Three authors independently assessed study quality and extracted data. One cluster-randomized controlled trial (432 women) met the inclusion criteria. However, the overall methodological quality was poor. The authors did not report measure of association but only provided P values (P less than 0.05) for all outcomes. The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. There are no randomized trials on the effect of prenatal education on congenital toxoplasmosis rate, or toxoplasmosis seroconversion rate during pregnancy, but three observational studies consistently suggest that prenatal education might have a positive impact on these outcomes. Even though primary prevention of congenital toxoplasmosis is considered a desirable intervention, given the lack of related risks compared to secondary and tertiary prevention, its effectiveness has not been adequately evaluated. There is very little evidence from RCTs that prenatal education is effective in reducing congenital toxoplasmosis even though evidence from observational studies suggests it is. Given the lack of good evidence supporting

  11. Congenital scoliosis: etiology and associations.

    PubMed

    Hensinger, Robert N

    2009-08-01

    Literature review. To provide a current overview of congenital scoliosis and associated conditions. The etiology of congenital scoliosis is unknown. A variety of factors have been implicated in the development of vertebral abnormalities. These factors provide clues to the origin of congenital scoliosis. A search of PubMed, using the keywords congenital scoliosis, etiology, and genetics was performed. Environmental factors, genetics, vitamin deficiency, chemicals, and drugs, singly or in combination, have all been implicated in the development of vertebral abnormalities. Whatever the cause, the physiologic injury occurs early in the embryologic period, well before the development of cartilage and bone. The resulting defects can lead to full or partial fusion or lack of development of the vertebrae, which, in turn, can cause a curvature that, may be progressive during the growth of the child. The origin of congenital scoliosis may be environmental, genetic, or a combination of factors. Research on these various factors continues. Early identification and management of concomitant defects can improve the patient's quality of life.

  12. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  13. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  14. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Sep 12, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  15. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... into smaller parts to be used or eliminated. Congenital hepatic fibrosis is characterized by malformation of the bile ducts and the blood vessels ... that cause isolated congenital hepatic fibrosis are ... include malformation of embryonic structures called ductal plates. Each ductal ...

  16. How Are Congenital Heart Defects Treated?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  17. How Are Congenital Heart Defects Diagnosed?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  18. Signs and Symptoms of Congenital Heart Defects

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  19. Vision following extended congenital blindness.

    PubMed

    Ostrovsky, Yuri; Andalman, Aaron; Sinha, Pawan

    2006-12-01

    Animal studies suggest that early visual deprivation can cause permanent functional blindness. However, few human data on this issue exist. Given enough time for recovery, can a person gain visual skills after several years of congenital blindness? In India, we recently had an unusual opportunity to work with an individual whose case history sheds light on this question. S.R.D. was born blind, and remained so until age 12. She then underwent surgery for the removal of dense congenital cataracts. We evaluated her performance on an extensive battery of visual tasks 20 years after surgery. We found that although S.R.D.'s acuity is compromised, she is proficient on mid- and high-level visual tasks. These results suggest that the human brain retains an impressive capacity for visual learning well into late childhood. They have implications for current conceptions of cortical plasticity and provide an argument for treating congenital blindness even in older children.

  20. [The congenital afibrinogenemia: case report].

    PubMed

    Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management.

  1. Congenital nystagmus and negative electroretinography

    PubMed Central

    Roussi, Mirella; Dalens, Hélène; Marcellier, Jean Jacques; Bacin, Franck

    2011-01-01

    Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17–18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina. PMID:21573087

  2. Leber's congenital amaurosis as conceived by Leber.

    PubMed

    Pinckers, A J

    1979-01-01

    Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis. The present diagnosis of Leber's congenital amaurosis is not a clinical syndrome but an aspecific symptom complex.

  3. Lengthening of congenital forearm stumps.

    PubMed

    Jasiewicz, Barbara; Tesiorowski, Maciej; Kacki, Wojciech; Kasprzyk, Marcin; Zarzycki, Daniel

    2006-05-01

    The Ilizarov device and distraction osteogenesis method became very useful in correction and elongation of forearm defects. Two cases of forearm elongation with congenital transverse defect are described. The construction of the device is provided. During follow-up examination, 2 and 7 years after the treatment, good clinical results were achieved in both patients with the use of upper limb prosthesis employing the patient's own elbow joint. Presented application of the Ilizarov method can significantly improve possibilities for the use of prosthesis in patients with congenital upper limb defects and result in better cosmetic and functional outcome.

  4. Leber's congenital amaurosis: an update.

    PubMed

    Fazzi, Elisa; Signorini, Sabrina Giovanna; Scelsa, Barbara; Bova, Stefania Maria; Lanzi, Giovanni

    2003-01-01

    Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.

  5. [Congenital afibrinogenemia: about a case].

    PubMed

    Assani, Karim; Karboubi, Lamya; Dakhama, Badr Sououd Benjelloun

    2016-01-01

    Afibrinogenemia is a rare dyscrasia characterized by a congenital fibrinogen deficiency It is transmitted in an autosomal recessive manner. Hemorrhagic manifestations are variable and can be life-threatening. A little more than 250 cases have been published up till now. We here report a new case of congenital afibrinogenemia in a 3 1/2-year old child hospitalized for medium abundance hematemesis. This case study aims to highlight numerous aspects of this condition from a clinical, biological, genetic and therapeutic points of view.

  6. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

    PubMed Central

    Vissers, L. E. L. M.; Stankiewicz, P.; Yatsenko, S. A.; Crawford, E.; Creswick, H.; Proud, V. K.; de Vries, B. B. A.; Pfundt, R.; Marcelis, C. L. M.; Zackowski, J.; Bi, W.; van Kessel, A. Geurts; Lupski, J. R.

    2007-01-01

    Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought. The complicated nature of these rearrangements challenges the accurate delineation of the chromosomal breakpoints and mechanisms involved. Here, we report a molecular cytogenetic analysis of two patients with congenital anomalies and unbalanced de novo CCRs involving chromosome 17p using high-resolution array-based comparative genomic hybridization (array CGH) and fluorescent in situ hybridization (FISH). In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the Charcot-Marie–Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p. The latter, together with a duplication of 21q22.3-qter detected by array CGH, are likely the unbalanced product of a translocation t(17;21)(p13.3;q22.3). In the second patient, an 8-year-old girl with mental retardation, short stature, microcephaly and mild dysmorphic features, we identified four submicroscopic interspersed 17p duplications. All 17 breakpoints were examined in detail by FISH analysis. We found that four of the breakpoints mapped within known low-copy repeats (LCRs), including LCR17pA, middle SMS-REP/LCR17pB block, and LCR17pC. Our findings suggest that the LCR burden in proximal 17p may have stimulated the formation of these CCRs and, thus, that genome architectural features such as LCRs may have been instrumental in the generation of these CCRs. PMID:17457615

  7. [Genetics of congenital heart diseases].

    PubMed

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  8. Dermatoglyphic profile in congenital cataracts.

    PubMed

    Angra, S K; Rao, N P; Panda, A; Grewal, M S

    1990-01-01

    Forty-five children with congenital cataract cases were studied for patterns and compared with age sex matched controls. The patients showed marked differences in different dermatoglyphic traits. The intra uterine aetiological groups i.e. rubella, hereditary and undetected aetiology, showed variations in mainline terminations. Rubella group showed increased angle atd.

  9. Congenital Absence of the Pericardium

    PubMed Central

    Kim, Hyun-Jin; Cho, Goo-Yeong; Choi, Sang Il

    2014-01-01

    Congenital absence of the pericardium is a rare cardiac malformation and is most often asymptomatic. It is usually discovered as an incidental finding. Physical examination, chest radiography, and electrocardiogram are often unremarkable. Echocardiography provides valuable information, and sometimes computed tomography or magnetic resonance imaging is needed for subsequent confirmation. PMID:24753808

  10. [Pregnancy and congenital heart disease].

    PubMed

    Manso, Begoña; Gran, Ferrán; Pijuán, Antonia; Giralt, Gemma; Ferrer, Queralt; Betrián, Pedro; Albert, Dimpna; Rosés, Ferrán; Rivas, Nuria; Parra, Montserrat; Girona, Josep; Farrán, Inmaculada; Casaldáliga, Jaume

    2008-03-01

    Since the creation of the Adult Congenital Heart Disease Units and of the High Obstetric Risk Units, there has been increasing interest in hemodynamic and obstetric outcomes in pregnant woman with congenital heart disease. Retrospective descriptive study of 56 women with congenital heart disease aged (mean [range]) 25 (18-40) years, who experienced a total of 84 pregnancies between January 1992 and August 2006. The women were divided into three pregnancy risk groups: A, low-risk; B, moderate-risk, and C, high-risk. The incidence of complications during pregnancy was 1.6%, 15%, and 20% in groups A, B, and C, respectively; the incidence during the puerperium was 2%, 23%, and 50%, respectively; and maternal mortality was 0%, 7.6%, and 25%, respectively. Overall, 69 children were born, and the prematurity rates in the three groups were 11%, 15%, and 100%, respectively. The following risk factors were studied: pulmonary hypertension, cyanosis, arrhythmia, left ventricular outflow tract obstruction, right ventricular dilatation, systemic right ventricle, and anticoagulation therapy. The risk factor most significantly associated with maternal or fetal morbidity or mortality was found to be pulmonary hypertension. Risk stratification in pregnant women with congenital heart disease provides prognostic information that can help multidisciplinary teams to target care to achieve the best results.

  11. Congenital anomalies in Primorsky region.

    PubMed

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  12. Operative treatment of congenital torticollis.

    PubMed

    Shim, J S; Jang, H P

    2008-07-01

    There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme.

  13. [Congenital ranula in a newborn].

    PubMed

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases.

  14. Congenital Hypothyroidism: Facts, Facets & Therapy.

    PubMed

    Kollati, Yedukondalu; Ambati, Ranga Rao; Reddy, Prakash Narayana; Kumar, N Satya Sampath; Patel, Rajesh K; Dirisala, Vijaya R

    2017-01-01

    Thyroid hormone (T3) is essential for normal development of children enabling brain development and somatic growth. However, certain individuals are genetically predisposed with insufficient or no thyroid hormones. Such a condition is termed congenital hypothyroidism (CH). In the present review, a brief back ground about congenital hypothyroidism, factors associated with CH leading to thyroid dysgenesis and thyroid dyshormonogenesis is elaborated. Additionally, the guidelines for available treatment options, management and follow-up required for patients diagnosed with CH are discussed. Treatment options in terms of treatment initiation and dosage of hormone replacement are discussed. Though CH is considered as the most common neonatal metabolic disorder, it is also easily treatable compared to other metabolic or hereditary diseases. The outcome of CH treatment depends on the compliance of parents early in life and by patients themselves during later part of life. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  15. [Radiological evaluation of congenital tumors].

    PubMed

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  16. Congenital heart disease in pregnancy.

    PubMed

    Swan, Lorna

    2014-05-01

    The story of congenital heart disease is one of the major successes of medicine in the last 50 years. Heart conditions previously associated with early death are now successfully treated. Many of these women are now in their child-bearing years wishing to have children of their own. All of these women should be offered comprehensive pre-conception counselling by a dedicated multi-disciplinary team. Each woman will present a unique set of cardiac and obstetric challenges that require an individualised assessment of risk and a carefully documented care plan. In this chapter, I describe the most common forms of congenital heart disease and the specific issues that should be assessed before conception. I present a systematic approach to risk stratification and care planning. These lesions range from mild disease with little implications for pregnancy to those with a sizable risk of maternal mortality or complications. I will also discuss fetal risk factors.

  17. Congenital myotonia in related kittens.

    PubMed

    Hickford, F H; Jones, B R; Gething, M A; Pack, R; Alley, M R

    1998-06-01

    Four closely related domestic shorthair kittens were investigated following the detection of abnormalities in their gait, difficulty opening their mouths and muscle hypertrophy. They walked with a stiff, stilted gait, with the stiffness reducing during exercise. Startling of the kittens resulted in hyperextension of the limbs and falling to lateral recumbency, or spasm of the orbicularis oculi muscle, prolonged prolapse of the nictitating membranes and flattening of the ears. One kitten was intermittently dysphonic. Endotracheal intubation of the anaesthetised kittens was difficult due to an inability to open the mouth to a wide angle, and narrowing of the glottis due to muscle spasm. A diagnosis of congenital myotonia was made based on the clinical signs, the kittens' ages, typical myotonic discharges on electromyography, and the histopathological and histochemical findings in muscle. This is the first report of congenital myotonia in this species.

  18. Genetics of Congenital Heart Disease

    PubMed Central

    Richards, Ashleigh A; Garg, Vidu

    2010-01-01

    Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease. PMID:21532774

  19. Congenital Absence of the Pericardium.

    PubMed

    Lopez, David; Asher, Craig R

    Congenital absence of the pericardium (CAP) is one of the rarest cardiac congenital anomalies. It can occur as a complete absence of the entire pericardium, absence of the right or left portion of the pericardium or a partial, foramen-like defect of the right or left pericardium. While the majority of cases are clinically silent, multiple reports associate CAP with symptomatic presentation. The most feared complication of CAP is sudden death due to cardiac strangulation across a partial defect of the left pericardium. Given its rare occurrence, most clinicians and imaging specialists will have little experience with this condition and may fail to recognize it on thoracic or cardiac studies. Thus, the purpose of this review is to highlight the common clinical and multimodality imaging features associated with this anomaly and suggest a management algorithm. Copyright © 2016. Published by Elsevier Inc.

  20. Congenital syphilis: The continuing scourge

    PubMed Central

    Agrawal, Prachi G.; Joshi, Rajesh; Kharkar, Vidya D.; Bhaskar, M. V.

    2014-01-01

    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy. PMID:26396451

  1. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  2. Hirschsprungs disease with congenital hypothyroidism.

    PubMed

    Kota, Sunil Kumar; Modi, K D; Rao, Madan Mohan

    2012-03-01

    We report a female newborn baby who presented with vomiting and abdominal distension on day 21 of life. Examination revealed facial puffiness, open posterior fontanelles, dry skin, cold peripheries and prominent abdominal veins with visible peristalsis. Barium enema revealed dilated proximal colon, empty rectum, funnel like transition zone between proximal dilated and distal constricted bowel. Serum TSH level was >;150 uIU/mL. Biopsy revealed aganglionic segment suggesting Hirschsprungs disease, an unusual association with congenital hypothyroidism.

  3. Genetic appraisal of congenital cataract.

    PubMed

    Angra, S K; Rao, P; Panda, A; Grewal, M S

    1987-01-01

    A total of 45 congenital cataract cases were studied for chromosomal aberrations and dermatoglyphic patterns. Whereas parents showed no marked differences, patients showed marked differences in different dermatoglyphic traits as compared to age-sex matched controls. Out of all the patients Rubella, hereditary and undetected actiology groups showed variations differently, SCE were seen in all cataracts irrespective of their aetiology as compared to controls.

  4. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  5. [Congenital afibrinogenemia: a case report].

    PubMed

    El Boussaadni, Y; Benajiba, N; El Ouali, A; Amrani, R; Rkain, M

    2015-01-01

    Afibrinogenemia is a rare autosomal recessive disease. Its clinical manifestations vary in severity, ranging from minimal bleeding to cataclysmic hemorrhage, and can begin at birth or, sometimes, later. We report a case of a female infant, 10 months of age, hospitalized in the pediatrics department because of a postvaccination hematoma. Biologic exploration found congenital afibrinogenemia. Through this case, we review the clinical features of this disease and its management. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  6. Congenital deficiency of factor VII.

    PubMed

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  7. Syndromes with congenital brittle bones.

    PubMed

    Plotkin, Horacio

    2004-08-31

    There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2). A debate about the definition of OI and a possible clinical and prognostic classification are warranted.

  8. Syndromes with congenital brittle bones

    PubMed Central

    Plotkin, Horacio

    2004-01-01

    Background There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). Discussion A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2). Summary A debate about the definition of OI and a possible clinical and prognostic classification are warranted. PMID:15339338

  9. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  10. Pulmonary hypertension in congenital shunts.

    PubMed

    Beghetti, Maurice; Tissot, Cecile

    2010-10-01

    Pulmonary arterial hypertension frequently arises in patients with congenital heart disease. The vast majority present with congenital cardiac shunts. Initially these may manifest as left-to-right (i.e. systemic-to-pulmonary) shunts. The natural history of disease progression involves vascular remodeling and dysfunction that lead to increased pulmonary vascular resistance and, finally, to the development of Eisenmenger's syndrome, which is the most advanced form. The anatomical, pathological and structural abnormalities occurring in the pulmonary circulation of these patients are, to some extent, similar to those observed in other forms of pulmonary arterial hypertension. This understanding has recently led to significant changes in the management of Eisenmenger's syndrome, with the introduction of treatment specifically targeting pulmonary vascular disease. Early closure of the cardiac shunt remains the best way of preventing pulmonary vascular lesions. However, it is still not clear which preoperative parameters predict safe and successful repair, though hemodynamic evaluation is still routinely used for assessment. Postoperative pulmonary hypertension, both in the immediate period after surgical repair and during long-term follow-up, remains a real therapeutic challenge. The clinical situation of a single ventricle with Fontan circulation also presents difficulties when pulmonary vascular lesions are present. This article reviews pulmonary hypertension associated with congenital shunts and discusses a number of the specific problems encountered.

  11. Vestibular abnormalities in congenital disorders.

    PubMed

    Sando, I; Orita, Y; Miura, M; Balaban, C D

    2001-10-01

    This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.

  12. Congenital duplication of the larynx.

    PubMed

    Simpson, A I; Khanna, A; Stanton, A

    2014-06-01

    The larynx is an intricate structure serving three important functions in humans: it protects the lower respiratory airway, facilitates respiration and helps produce sound through a key role in phonation. We report the first published finding of congenital duplication of the larynx in a patient with previously cleared squamous cell carcinoma of the neck and a new diagnosis of squamous cell carcinoma of the lung. We describe the incidental finding of duplication of the larynx in a 62-year-old man with previously completely cleared squamous cell carcinoma of the neck, who presented with worsening dyspnoea. We also provide a brief overview of other published cases in which duplication of the vocal folds and epiglottis has been reported. Our patient experienced no symptoms related to this incidental finding of congenital duplication of the larynx. The first case of congenital duplication of the larynx is currently of academic interest only; however, the possible association with squamous cell carcinoma is postulated to raise awareness in clinicians who may observe further cases in the future.

  13. [Congenital retinal folds in different clinical cases].

    PubMed

    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  14. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2016-08-01

    replicative stress and/or changes in the bone marrow microenvironment in patients with congenital neutropenia leads to a higher rate of accumulation of...congenital neutropenia. We hypothesize that replicative stress and/or changes in the bone marrow microenvironment in patients with congenital neutropenia...Research Projection Office (Time frame 1-3 months; completed). DoD approval has been obtained. 1c. Obtain human blood or bone marrow samples from

  15. Congenital rubella in the USSR

    PubMed Central

    Kantorovič, R. A.; Volodina, N. I.; Teleševskaja, E. A.; Avdina, A. I.; Sokolova, N. M.; Beleckaja, L. V.; Černova, M. P.; Farber, N. A.

    1979-01-01

    The results of a comprehensive study of the problem of congenital rubella in Moscow and other cities of the USSR are presented. The highest rubella incidence was found among children 1-7 years of age; but 20-25 rubella cases were also recorded annually per 100 000 adults. Specific antihaemagglutinins were found in 36-70% of children and in 91-99% of adults. Investigation of the rubella foci revealed clinical rubella, confirmed by laboratory methods, in children and adults who had low initial titres of specific antihaemagglutinins. Serological screening of 1661 apparently healthy pregnant women detected antihaemagglutinins in 98.4%; however, low (1:8-1:16) titres were found in 53.3% and high (postinfection) titres and specific IgM in only 8.8% of cases. A study of 523 pregnant women who had been in contact with a source of infection revealed clinical rubella in 10.9% and inapparent infection in 0.7% of cases. A virological study of fetuses from infected pregnant women showed that there was intrauterine viral infection in 73% of cases; 38% of rubella-infected fetuses had congenital defects (unilateral or bilateral cataract, absence of one cerebral hemisphere, adhesion of the upper and lower eyelid, or diffuse damage of the crystalline lens); in one woman rubella virus was isolated from the fetuses and abortion materials received from two abortions with an interval of 6 months. Serological investigation of 519 mothers who had given birth to children with congenital defects showed that there were more frequent indications of rubella infection in the mothers of the children with CNS and cardiovascular defects, as well as in the children with congenital cardiovascular and CNS defects, than in the control groups. These data confirmed the teratogenic nature of rubella strains found in the USSR. This study indicates the need to improve rubella surveillance in pregnant women and to consider the prophylaxis of congenital rubella in the USSR. (See also Addendum.) ImagesFig. 1

  16. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    MedlinePlus

    ... Metabolic Diseases Foundation for Ichthyosis and Related Skin Types (FIRST): Congenital Ichthyosiform Erythroderma National Organization for Rare Disorders (NORD): Ichthyosis University of Kansas ...

  17. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society.

  18. The changing epidemiology of congenital heart disease.

    PubMed

    van der Bom, Teun; Zomer, A Carla; Zwinderman, Aeilko H; Meijboom, Folkert J; Bouma, Berto J; Mulder, Barbara J M

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, these patients need frequent follow-up by physicians with specific knowledge in the field of congenital heart disease. However, planning of care for this population is difficult, because the number of patients currently living with congenital heart disease is difficult to measure. Birth prevalence estimates vary widely according to different studies, and survival rates have not been well recorded. Consequently, the prevalence of congenital heart disease is unclear, with estimates exceeding the number of patients currently seen in cardiology clinics. New developments continue to influence the size of the population of patients with congenital heart disease. Prenatal screening has led to increased rates of termination of pregnancy. Improved management of complications has changed the time and mode of death caused by congenital heart disease. Several genetic and environmental factors have been shown to be involved in the etiology of congenital heart disease, although this knowledge has not yet led to the implementation of preventative measures. In this Review, we give an overview of the etiology, birth prevalence, current prevalence, mortality, and complications of congenital heart disease.

  19. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    MedlinePlus

    ... congenital nail disorder 10 nonsyndromic congenital nail disorder 10 Enable Javascript to view the expand/collapse boxes. ... All Close All Description Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and ...

  20. 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.

  1. A Case Series: Congenital Hyperinsulinism

    PubMed Central

    Alaei, Mohammad Reza; Akbaroghli, Susan; Keramatipour, Mohammad; Alaei, Ali

    2016-01-01

    Introduction Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown. Case Presentation During the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children’s Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease. Conclusions Congenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes

  2. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

    PubMed

    Tominaga, Kayo; Hayashi, Yukiko K; Goto, Kanako; Minami, Narihiro; Noguchi, Satoru; Nonaka, Ikuya; Miki, Tetsuro; Nishino, Ichizo

    2010-04-01

    Congenital myotonic dystrophy (CDM) is associated with markedly expanded CTG repeats in DMPK. The presence of numerous immature fibers with peripheral halo is a characteristic feature of CDM muscles together with hypotrophy of type 1 fibers. Smaller type 1 fibers with no structural abnormality are a definitive criterion of congenital fiber type disproportion (CFTD). Nonetheless, we recently came across a patient who was genetically confirmed as CDM, but had been earlier diagnosed as CFTD when he was an infant. In this study, we performed clinical, pathological, and genetic analyses in infantile patients pathologically diagnosed as CFTD to evaluate CDM patients indistinguishable from CFTD. We examined CTG repeat expansion in DMPK in 28 infantile patients pathologically diagnosed as CFTD. Mutation screening of ACTA1 and TPM3 was performed, and we compared clinical and pathological findings of 20 CDM patients with those of the other cohorts. We identified four (14%) patients with CTG expansion in DMPK. ACTA1 mutation was identified in four (14%), and TPM3 mutation was found in two (7%) patients. Fiber size disproportion was more prominent in patients with ACTA1 or TPM3 mutations as compared to CFTD patients with CTG expansion. A further three patients among 20 CDM patients showed pathological findings similar to CFTD. From our results, CDM should be excluded in CFTD patients.

  3. Immunohistochemical study of congenital gingival granular cell tumor (congenital epulis).

    PubMed

    Takahashi, H; Fujita, S; Satoh, H; Okabe, H

    1990-11-01

    The congenital gingival granular cell tumor (CGGT) or congenital epulis is a rare lesion of unknown origin found only in newborn infants. The tumor consists mainly of large eosinophilic granular cells arranged in solid nests that are separated by thin fibrovascular areas. In addition, there are some spindle-shaped cells and medium-sized polygonal cells (so-called interstitial cells) among the neoplastic granular cells. Three CGGTs were investigated with a panel of poly- and monoclonal antibodies, using immunoperoxidase methods on formalin fixed paraffin embedded sections. Neoplastic granular cells of these three cases show cytoplasmic staining for neuron-specific enolase (NSE) and vimentin. However, all other reactions were negative. Our results suggest that the lesion may be derived from uncommitted nerve-related mesenchymal cells. On the other hand, interstitial cells show strong S-100 protein-, cytokeratin-, vimentin-, and NSE-immunostainings, and these cells are consistent with neuroendocrine nature. The presence of a biphasic cell population with granular cells and interstitial cells must be considered the main immunohistochemical feature.

  4. Congenital dystrophic medial rectus muscles

    PubMed Central

    Murthy, Ramesh

    2017-01-01

    We report two patients, one with congenital dystrophic medial rectus muscles and one with absence of the medial rectus muscles; in addition, one of them had absence of the lateral rectus muscles. While absence of the superior oblique and superior rectus has been more commonly reported in literature, especially with craniofacial syndromes, our patients were nonsyndromic. Considering the risk of anterior segment ischemia, correction of the large-angle exotropia was performed by horizontal rectus muscle surgery where possible, along with transfer of the superior oblique tendon to the superior part of the normal medial rectus muscle insertion area to create a tethering effect with a good outcome. PMID:28300745

  5. Laboratory Diagnosis of Congenital Toxoplasmosis

    PubMed Central

    Pomares, Christelle

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  6. Short stature with congenital ichthyosis.

    PubMed

    Lakhani, Som J; Lakhani, Om J

    2015-12-09

    PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

  7. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    PubMed Central

    de Figueiredo, Marina Juliana Pita Sassioto Silveira; dos Reis Braga, Susana; Akkari, Miguel; Prado, José Carlos Lopes; Santili, Cláudio

    2015-01-01

    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with acute fracture of the clavicle at birth by trauma in the childbirth. The diagnostic is relatively easy and the treatment can be just observation or even surgical. PMID:27047839

  8. Idiopathic erythermalgia: a congenital disorder.

    PubMed

    Michiels, J J; van Joost, T; Vuzevski, V D

    1989-11-01

    Idiopathic erythermalgia during early childhood and adolescence is characterized by red, congested, burning pain of the lower extremities provoked by exercise or exposure to warmth. The clinical symptoms of idiopathic erythermalgia in a young woman and her mother are described. Histopathologic and immunofluorescence findings in biopsy specimens of affected areas of skin were consistent with a nonspecific inflammatory process. The condition was completely refractory to any treatment. Even the long-lasting relief of pain with one low dose of aspirin, which is a prerequisite for the diagnosis of thrombocytemic erythromelalgia, was lacking. Idiopathic erythermalgia appears to be a separate clinical entity and congenital disorder.

  9. Congenital ranula: a case report.

    PubMed

    Cavalcante, Ana Sueli Rodrigues; Rosa, Luiz Eduardo Blumer; Costa, Nívea Cristina Sena; Hatakeyama, Márcia; Anbinder, Ana Lia

    2009-01-01

    The purpose of this study was to report a case of bilateral swelling on the floor of the mouth of a 7-month-old patient. The lesion was congenital and had started to cause feeding problems. After the clinical diagnosis of ranula was made, the lesion was marsupialized. The obtained specimen was submitted for histopathological examination, which revealed an epithelial-lined cystic lesion. These results led to the final diagnosis of mucus retention cyst. After an 8-year follow-up period, the patient is in good general health with no recurrences.

  10. Minimal Incision Congenital Cardiac Surgery

    PubMed Central

    del Nido, Pedro J.

    2008-01-01

    Minimally invasive techniques have had limited application in congenital cardiac surgery, primarily due to the complexity of the defects, small working area, and the fact that most defects require exposure to intracardiac structures. Advances in cannula design and instrumentation have allowed application of minimal incision techniques but in most cases, cardiopulmonary bypass is still required. Image guided surgery, which uses non-invasive imaging to guide intracardiac procedures, holds the promise of permitting performance of reconstructive surgery in the beating heart in children. PMID:18395631

  11. Purpura-associated congenital lymphedema.

    PubMed

    Berti, Samantha; Pieri, Alessandro; Lotti, Torello; Duranti, Alberto; Panelos, John; De Martino, Maurizio; Moretti, Silvia

    2009-01-01

    An 8-year-old girl referred to our Department for a two-month worsening of congenital primary lymphedema of the lower limb and for the appearance of several purpuric lesions on the right thigh and knee. We diagnosed a lichenoid pigmented purpura of Gougerot and Blum in a patient with Milroy disease, complicated by an insufficiency of anterior saphena. We treated the patient with topical steroids and compression stockings, until surgical intervention of phlebectomy. We report this case for the rarity of the disease, for the even more rare association with lichenoid pigmented purpura and for cutaneous immunopathological findings.

  12. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2015-08-01

    myeloid leukemia (AML) is perhaps the major clinical concern in patients with severe congenital neutropenia (SCN) and Shwachman-Diamond syndrome (SDS...for the markedly increased risk of transformation to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) in patients with congenital...Hematopoietic stem cells Granulocyte colony-stimulating factor Granulocyte colony-stimulating factor receptor Acute myeloid leukemia Myelodysplastic

  13. Congenital Plasmodium falciparum Malaria in Washington, DC.

    PubMed

    Del Castillo, Melissa; Szymanski, Ann Marie; Slovin, Ariella; Wong, Edward C C; DeBiasi, Roberta L

    2017-01-11

    Congenital malaria is rare in the United States, but is an important diagnosis to consider when evaluating febrile infants. Herein, we describe a case of congenital Plasmodium falciparum malaria in a 2-week-old infant born in the United States to a mother who had emigrated from Nigeria 3 months before delivery. © The American Society of Tropical Medicine and Hygiene.

  14. A case and review of congenital leukonychia.

    PubMed

    Pathipati, Akhilesh S; Ko, Justin M; Yost, John M

    2016-10-15

    Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.

  15. The genetic landscape of familial congenital hydrocephalus.

    PubMed

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  16. Congenital psoriasis: case report and literature review.

    PubMed

    Lehman, Julia S; Rahil, Anudeep K

    2008-01-01

    While childhood psoriasis is fairly common, congenital psoriasis appears to be rare and has not been well characterized. We present a patient with histologically confirmed congenital psoriasis. By reviewing the literature, we aim to both define this disease and compare it to infantile and childhood psoriasis. Electronic searches found articles reporting patients with biopsy-proven congenital psoriasis. We recorded clinical features, such as family history, anatomic involvement, and disease severity. We compared these data with previous descriptions of infantile and childhood psoriasis. We included nine patients with congenital psoriasis in our analysis. No patient had a first-degree family history of psoriasis. While the face, scalp, chest, and trunk were frequently involved, the buttocks generally were spared. Several patients had persistent disease despite therapy. In this series, congenital psoriasis differed from infantile and childhood psoriasis in several respects. Specifically, congenital psoriasis was associated with a lower prevalence of relevant family history, which could increase over time, and a different pattern of anatomic involvement, which may reflect exposure to age-associated environmental factors. Although several patients with congenital psoriasis had severe disease, this likely represents publication bias. Additional reports of congenital psoriasis with extended follow-up are needed to better characterize this condition.

  17. Macular colobomas in Leber's congenital amaurosis.

    PubMed

    Margolis, S; Scher, B M; Carr, R E

    1977-01-01

    Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

  18. Hereditary congenital unilateral deafness: a new disorder?

    PubMed

    Dikkers, Frederik G; Verheij, Joke B G M; van Mechelen, Monique

    2005-04-01

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral deafness must have a lower prevalence. The purpose of this research was to present a new disorder, hereditary congenital unilateral deafness. A pedigree is presented in which both male and female members display symptoms of congenital unilateral deafness. Two affected persons and a normal-hearing member of the family have vestibular abnormalities without dysequilibrium. The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature.

  19. Congenital Lobar Emphysema with Pulmonary Extramedullary Hematopoiesis.

    PubMed

    Suryawanshi, Kishor; Nikumbh, Dhiraj; Singhavi, Sudhir; Damle, Rajshri; Dravid, Nandkumar

    2017-01-01

    Congenital lobar emphysema is a one of the rare variety of congenital abnormality of the lung causing respiratory distress in newborns and infants. Herein, we report a case of congenital lobar emphysema in a 3-week-old female admitted to the pediatric intensive care unit with severe respiratory distress. CT scan revealed a hyperinflated, hyperlucent left upper lobe, collapse of the ipsilateral lung and marked mediastinal shift to the right. The patient underwent emergency left upper lobectomy with improvement of her condition in the postoperative period. Histopathological findings confirmed the clinical diagnosis of congenital lobar emphysema with an unusual finding of pulmonary extramedullary hematopoiesis. Congenital lobar emphysema often presents a diagnostic and therapeutic dilemma and therefore requires a high index of suspicion in neonates presenting with respiratory distress to avoid morbidity and mortality.

  20. Congenital feeding and swallowing disorders.

    PubMed

    Abadie, Véronique; Couly, Gérard

    2013-01-01

    Although poorly recognized and studied, congenital sucking, swallowing, and/or feeding disorders are common. They can be the symptoms that reveal a neuromuscular disease, or that complicate a neuromuscular disease. It is essential to know feeding physiology during fetal and infant development in order to understand the variety of its disorders and to direct correctly diagnostic and therapeutic processes. A good semiological analysis will identify the symptoms. Several investigations help to determine the mechanism of the trouble (fiber endoscopy, videofluoroscopy, facial and swallowing electromyography, esophageal manometry, etc.). Other investigations, in addition to clinical assessments, help to identify the cause of the whole picture (peripheral electromyography, brain MRI, genetic or metabolic investigations, etc.). The main causes of sucking, swallowing, and feeding disorders are lesions of the brainstem (malformations of the posterior fossa, neonatal brainstem tumors, agenesis of cranial nerves, clastic lesion of the posterior brain, craniovertebral anomalies, syndromes that involve the rhombencephalic development such as Pierre Robin sequence, CHARGE syndrome, etc.). Suprabulbar lesions, neuromuscular disorders, peripheral esophageal, digestive, and laryngeal anomalies and dysfunctions can also be involved. The main principles of the management of congenital sucking, swallowing, and feeding disorders are the following: cure the cause if possible, facilitate the sucking reflex, preventing deleterious consequences of aspiration, preventing malnutrition, and preventing posttraumatic anorexia. Advice can be given to caregivers and physiotherapists who take charge of these children. Copyright © 2013 Elsevier B.V. All rights reserved.

  1. [Congenital buried penis in children].

    PubMed

    Lardellier-Reynaud, F; Varlet, F; François, M; Mouriquand, P

    2011-10-01

    Congenital buried penis in children is an uncommon and poorly known entity. The aims of this study were to report an original technique for correction of buried penis and to evaluate its results. It is a retrospective study of buried penis operated between November 1998 and May 2009. The acquired concealed penis and hypospadias were excluded from this study. The procedure includes several stages: degloving of the penis through a ventral anchor-like incision; division of the adherent layers surrounding the corpora cavernosa; anchorage of the Buck's fascia to the corporeal albuginea at the base of the penis; and ventral cutaneous coverage. The long-term results were evaluated by the parents and the surgeon according to anatomical, functional and aesthetic criterion. Twenty-five boys were evaluated. The mean age at surgery was 27 months (seven days-120 months). Two children required an additional plasty. Results were satisfactory in 24 cases (96%). One child required a redo procedure for unsatisfactory outcome. Of seven children with redundant skin (28%), three underwent a complementary cutaneous excision. Congenital buried penis remains a controversial issue. Our technique was simple and easily reproducible. Voiding difficulties, urinary tract infection or strong parental request were the main indications of this surgery in our experience. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  2. [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.

  3. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull-X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

  4. Foot and Ankle Function at Maturity After Ilizarov Treatment for Atrophic-Type Congenital Pseudarthrosis of the Tibia: A Comprehensive Outcome Comparison with Normal Controls.

    PubMed

    Seo, Sang Gyo; Lee, Dong Yeon; Kim, Yeon Soo; Yoo, Won Joon; Cho, Tae-Joon; Choi, In Ho

    2016-03-16

    The purpose of this study was to evaluate clinical outcomes and the biomechanical function of the foot and ankle at skeletal maturity of patients treated for atrophic-type congenital pseudarthrosis of the tibia (CPT) compared with healthy young adult controls. Twenty-four patients (mean age of 19.1 years) who had undergone Ilizarov treatment for unilateral atrophic-type CPT were compared with twenty-four controls (mean age of 19.6 years). All participants were evaluated using validated outcome questionnaires, radiographs, physical examination, instrumented motion analysis including a multisegmental foot model, and pedobarographic measurement. Within the CPT group, the mean score of the American Orthopaedic Foot & Ankle Society (AOFAS) ankle-hindfoot scale was 89.9 (range, 76 to 100), and the mean score of the Oxford Ankle Foot Questionnaire (OAFQ) was 42.8 (range, 15 to 60). Motion analysis and pedobarographic measurement showed differences in biomechanical function of the foot and ankle on the side affected by CPT: a slower walking speed due to the short stride length; decreased dorsiflexion in hallux motion; increased hindfoot pronation in the presence of forefoot supination; diminished ankle push-off power; delayed time to heel-rise; and decreased forefoot pressure relative to hindfoot pressure. However, sagittal motion of the hindfoot and forefoot on the affected side was relatively well preserved. Subgroup analysis demonstrated no significant differences in terms of clinical outcome scores and most biomechanical parameters between the tibiofibular synostosis group and the intact-fibula group. Children with atrophic-type CPT can obtain satisfactory foot and ankle function at maturity after successful Ilizarov treatment. Early stabilization of the ankle mortise by fibular stabilization and preservation of ankle mobility during and after treatment is thought to be crucial to maintaining function of the ankle in patients with CPT. Therapeutic Level III. See

  5. Congenital toxoplasmosis: an uncommon disease in Thailand.

    PubMed

    Pengsaa, Krisana; Hattasingh, Weerawan

    2015-02-01

    The seroprevalence of toxoplasma antibodies in pregnant women and the prevalence of congenital infection differ widely between countries. A few cases of congenital toxoplasmosis diagnosed after the neonatal period, with long-term sequelae, have been reported in Thailand. No data on the prevalence of congenital toxoplasmosis have been documented and no screening for toxoplasmosis during pregnancy has been undertaken in Thailand. A questionnaire enquiring about cases of congenital toxoplasmosis during 1995-2013 was distributed to paediatricians in referral and university hospitals in Thailand and the responses were analysed. Specific toxoplasma IgM antibody and clinical features were used for diagnosis. There were 20 cases - 13 most likely and seven suspected cases of congenital toxoplasmosis. Most patients had systemic manifestations, but only 25% of diagnosed patients exhibited the classic triad of hydrocephalus, cerebral calcification and chorioretinitis. One of the five deceased patients lived beyond the age of 13 years and died of a pulmonary infection. All 15 surviving cases developed deafness, visual impairment or developmental delay. Twenty cases of congenital toxoplasmosis are reported. Delayed diagnosis and treatment resulted in a poor outcome. The prevention of toxoplasmosis in pregnant women and prompt diagnosis and appropriate treatment of congenital toxoplasmosis should be a priority in order to prevent a poor outcome in infected children.

  6. Lash ptosis in congenital and acquired blepharoptosis.

    PubMed

    Malik, Khurram J; Lee, Michael S; Park, D J John; Harrison, Andrew R

    2007-12-01

    To determine the prevalence of lash ptosis (LP) in eyes with congenital and acquired blepharoptosis. We retrospectively graded photographs of 228 eyes from 174 patients with congenital or acquired blepharoptosis for LP. We used a 4-point rating scale for LP, in which 0 indicates no LP; 1, minimal; 2, moderate; and 3, severe. A prospective evaluation of LP in 30 eyes from 15 patients without blepharoptosis (control eyes) was also performed. A total of 107 eyes (in 87 patients) demonstrated congenital blepharoptosis and 121 eyes (in 87 patients) had acquired blepharoptosis. A moderate to severe rating of LP (rating, >/= 2) occurred in 60.7% of eyes with congenital blepharoptosis, 28.9% of eyes with acquired blepharoptosis, and 6.7% of control eyes. Lash ptosis (rating, >/= 1) was present in 91.6% of eyes with congenital blepharoptosis, 83.5% of eyes with acquired blepharoptosis, and 33.3% of control eyes. The mean LP rating was 2.1 for eyes with congenital blepharoptosis, 1.3 for eyes with acquired blepharoptosis, and 0.6 for control eyes. Lash ptosis was common in the patients with blepharoptosis. Moderate to severe LP occurred more commonly in all forms of blepharoptosis compared with normal eyes, with more frequent and more severe LP demonstrated in eyes with congenital blepharoptosis.

  7. Norrbottnian congenital insensitivity to pain.

    PubMed

    Minde, Jan K

    2006-04-01

    Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a mutation in the coding region of the NGFbeta gene specific for the disease haplotype. All three severely affected individuals were homozygous for the mutation. The disease haplotype was also observed in both unaffected and mildly affected family members, but in heterozygote form. We have identified 43 patients, 3 homozygous and 40 heterozygous. The homozygous patients have a severe congenital form with onset of symptoms at an early age, most often affecting the lower extremities with insidious progressive joint swellings or painless fractures. Fracture healing was normal, but the arthropathy was progressive, resulting in disabling Charcot joints with gross deformity and instability. These patients lacked deep pain perception in bones and joints and had no protective reflexes, leading to gross bone and joint complications. They also had abnormal temperature perception but normal ability to sweat. There was no mental retardation. Clinically, they fit best into the group HSAN type V. Sural nerve biopsies showed a moderate loss of thin myelinated fibers (Adelta-fibers) and a severe reduction of unmyelinated fibers (C-fibers). 14 of the 40 heterozygous adult patients had mild or moderate problems with joint deformities, usually with only slight discomfort. Treatment was conservative with (if needed) different kinds of orthosis and in three cases joint replacement. Nine patients had neuropathy, and nine patients had no symptoms. In congenital disorders like these, it is important to evaluate the age and also the slowly progressive nature, when considering treatment

  8. Unilateral straight hair and congenital horner syndrome.

    PubMed

    Wang, Frederick M; Wertenbaker, Christian; Cho, Hyung; Marmor, Maury A; Ahn-Lee, Sandra S; Bernard, Bruno A

    2012-06-01

    Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye color. We present 3 cases of unilateral straight hair in association with congenital Horner syndrome in which the patients had straight hair ipsilateral to the Horner syndrome, whereas on the contralateral side, it was curly, and we discuss possible mechanisms for this phenomenon.

  9. Large bimedial rectus recessions in congenital esotropia.

    PubMed Central

    Szmyd, S. M.; Nelson, L. B.; Calhoun, J. H.; Spratt, C.

    1985-01-01

    The success rate of large (6 and 7 mm) bimedial rectus recessions in 45 congenital esotropes with deviations of 50 prism dioptres or greater was found to be 91%. Judgment of final alignment was made six weeks postoperatively, with an average follow-up of 13 months. Large bimedial rectus recessions are an effective surgical treatment for congenital esotropia. This procedure does not significantly alter adduction, and leaves other muscles available should further surgery be necessary. These findings show that initial surgery on three or more muscles is unnecessary in congenital esotropia. PMID:3994944

  10. Congenital onychoheterotopia involving multiple toe nails.

    PubMed

    Yadav, Savita; Khullar, Geeti; Dogra, Sunil

    2013-01-01

    Onychoheterotopia is an uncommon condition in which nail tissue is found beyond the common nail unit of the digits of the hands and feet, most often on the fifth digit of the hand. It represents an extra and independent nail that can be present either congenitally, or more commonly, acquired following trauma. The exact pathogenesis of the congenital type is undetermined. We report a 25-year-old male with multiple congenital ectopic nails of the toes since birth, which has not been reported before.

  11. 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

  12. [Congenital hepatic fibrosis: apropos of 12 cases].

    PubMed

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C

    1988-02-01

    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  13. [Sex differences in congenital heart disease].

    PubMed

    Aubry, P; Demian, H

    2016-12-01

    Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  14. 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

  15. Public health research in congenital heart disease.

    PubMed

    Lara, Diego A; Lopez, Keila N

    2014-01-01

    Public health research is an integral part of the study of congenital heart disease. While this type of research has become more popular, particularly over the past decade, it has a history that stretches back to almost the beginnings of pediatric cardiology as a field. This review aims to introduce the concepts and methodologies of public health and how they relate to congenital heart disease, describe some of the challenges of traditional research methods in congenital heart disease, describe the history of public health research, and demonstrate the relevance of public health research, particularly databases, to pediatric cardiology fellows.

  16. High hyperopia in Leber's congenital amaurosis.

    PubMed

    Wagner, R S; Caputo, A R; Nelson, L B; Zanoni, D

    1985-10-01

    Few studies comment on the type of refractive errors found in patients with Leber's congenital amaurosis. The association of an uncomplicated infantile form of this condition with high hyperopia but without systemic complications has been suggested. In a retrospective study, we identified 11 patients who satisfied the criteria for the diagnosis of this subtype of Leber's congenital amaurosis. All of our cases were found to have at least +6.00 diopters of hyperopia on cycloplegic refraction. No systemic abnormalities were found in any of these children. We suggest that high hyperopia be included in the diagnostic criteria of this specific form of Leber's congenital amaurosis.

  17. Hyperopia in complicated Leber's congenital amaurosis.

    PubMed

    Dagi, L R; Leys, M J; Hansen, R M; Fulton, A B

    1990-05-01

    We studied the refractive status of 13 children with Leber's congenital amaurosis. Seven had the disease complicated by neurological or other systemic abnormalities, while the other 6 patients had only ophthalmic abnormalities. All 13 patients were hyperopic. The magnitude of hyperopia did not differ significantly between the complicated and uncomplicated groups. Therefore, one cannot, as previously suggested, use the presence of high hyperopia to differentiate an uncomplicated form of Leber's congenital amaurosis from one complicated by neurologic or other systemic abnormalities. The concurrence of hyperopia with Leber's congenital amaurosis should not steer the physician away from careful neurologic systemic or biochemical evaluation of the child.

  18. Congenital dental disease of horses.

    PubMed

    DeBowes, R M; Gaughan, E M

    1998-08-01

    Equine congenital dental deformities are not limited merely to those presented here; however, the examples discussed offer the reader an appreciation for the range of severity and complexity that may be found in affected horses. The veterinarian is obligated to provide the best possible care for the patient and to relieve animal suffering. The lack of definitive evidence for heritability of many of these defects can place the veterinarian in an untenable position, particularly when presented with literature that proclaims or suggests without evidence that a particular condition is inherited. In such cases, the veterinarian is encouraged to counsel owners, citing substantiated medical information, and to recommend that owners make the decision to eliminate the affected animals' ability to reproduce.

  19. Congenital anomalies surveillance in Canada.

    PubMed

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  20. X-linked congenital retinoschisis.

    PubMed

    Kellner, U; Brümmer, S; Foerster, M H; Wessing, A

    1990-01-01

    The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium. The complications were retinal detachments in 11% and vitreous hemorrhages in 4% of the eyes. In general, the vitreous hemorrhages resolved spontaneously. Retinal detachments were treated successfully with conventional buckling procedures. Redetachments occurred in about 40%. Prophylactic laser coagulation was of no use because it was complicated by detachment in 43% of our series. The electro-oculogram was usually normal. In addition to the known electrorentinographic findings of normal a-wave and reduced b-wave amplitudes, we found prolonged b-wave latencies and implicit times, as well as a reduced 30 Hz flicker response.

  1. [Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia].

    PubMed

    Zeidler, C; Welte, K

    2007-12-01

    Congenital bone marrow failure syndromes are rare diseases characterised by a reduction of mature blood cells (erythrocytes, platelets, neutrophils). Examples of such disorders include congenital aplastic anemia (Fanconi anemia), congenital hypoplastic anemia (Diamond-Blackfan anemia), congenital neutropenias (Kostmann syndrome, cyclic neutropenia, Shwachman-Diamond syndrome and others), and congenital thrombocytopenias (TAR syndrome, amegacaryocytic thrombocytopenia). In Germany the prevalence of congenital bone marrow failure syndromes can be estimated to be 10/1,000,000 children and adolescents. Although rare, these diseases contributed significantly to the current knowledge on normal haematopoiesis. The documentation of rare diseases by patient registries and the cooperation of clinical centres within networks are most important for the resolution of such disorders. In the following, congenital neutropenia will be presented as an example: Until the 1980s congenital neutropenia could only be classified clinically. Few cases had been reported in the literature. All subtypes were therefore collected under the general term "congenital neutropenia". The establishment of an international network of experts and the long-term documentation of the courses of disease in a common database allowed for statistically workable data in response to therapy, secondary diagnoses and the long-term prognosis. A close cooperation with scientists finally led to the characterisation of genetically different disorders with common pathomechanisms.

  2. Genetics Home Reference: congenital insensitivity to pain

    MedlinePlus

    ... have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a ... to cells that detect sensations such as touch, smell, and pain. Related Information What does it mean ...

  3. Transcription factor pathways and congenital heart disease.

    PubMed

    McCulley, David J; Black, Brian L

    2012-01-01

    Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses transcription factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners. By understanding the interaction partners, transcriptional targets, and upstream activators of these core cardiac transcription factors, additional information about normal heart formation and further insight into genes and pathways affected in congenital heart disease should result. Copyright © 2012 Elsevier Inc. All rights reserved.

  4. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Chung DC, Traboulsi EI. Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future ... refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. ...

  5. [Congenital toxoplasmosis: severe ocular and neurological complications].

    PubMed

    Hoekstra, Franka; Buzing, Cecile; Sporken, Jan M J; Erasmus, Corry E; van der Flier, Michiel; Semmekrot, Ben A

    2011-01-01

    Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased after 13 months. A 2-month-old boy presented with hydrocephalus and chorioretinitis, consistent with congenital toxoplasmosis. Despite antimicrobial treatment, at 12 months of age he suffered from epilepsy, cerebral palsy and vision impairment. Most infants with congenital toxoplasmosis (2 per 1000 live births in the Netherlands) are asymptomatic at birth. The education of pregnant women is crucial for the prevention of congenital toxoplasmosis. Awareness of antenatal and postnatal presenting signs and symptoms is important for clinicians, because early diagnosis and treatment may minimize sequelae. Untreated, the majority of affected infants will develop chorioretinitis, deafness and/or neurological symptoms.

  6. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... it alters a molecule within these cells called hemoglobin . Hemoglobin carries oxygen to cells and tissues throughout the ... autosomal recessive congenital methemoglobinemia , some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, ...

  7. Genetics Home Reference: critical congenital heart disease

    MedlinePlus

    ... right ventricle, D-transposition of the great arteries , Ebstein anomaly, hypoplastic left heart syndrome , interrupted aortic arch, ... Testing Registry: Congenital heart disease Genetic Testing Registry: Ebstein's anomaly Genetic Testing Registry: Hypoplastic left heart syndrome ...

  8. Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.

    PubMed

    Roosen, N; De Moor, J

    1984-05-01

    A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed.

  9. Congenital Insensitivity to Pain (HSNA type IV).

    PubMed

    Millichap, J Gordon

    2015-04-01

    Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched controls.

  10. Congenital esophageal stenosis owing to tracheobronchial remnants

    PubMed Central

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomosis of the esophagus. COMMENTS The congenital esophageal stenosis is an intrinsic narrowing of the organâ€(tm)s wall associated with its structural malformation. The condition can be caused by tracheobronchial remnants, fibromuscular stenosis or membranous diaphragm and the first symptom is dysphagia after the introduction of solid food in the diet. The first-choice treatment to tracheobronchial remnants cases is the surgical resection and end-to-end anastomosis of the esophagus. PMID:24142326

  11. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  12. Submacular hemorrhage secondary to congenital toxoplasmosis

    PubMed Central

    Costa, Ana Luiza Fontes de Azevedo; Martins, Thiago Gonçalves dos Santos; Moncada, Francisco Javier Solano; Motta, Mário Martins dos Santos

    2014-01-01

    ABSTRACT We report the case of a patient with congenital toxoplasmosis and submacular hemorrhage caused by a neovascular membrane who underwent an intravitreal injection of C3F8 and bevacizumab, and had a good visual recovery. PMID:24728255

  13. Ancient history of congenital adrenal hyperplasia.

    PubMed

    New, Maria I

    2011-01-01

    Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of congenital adrenal hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH.

  14. Congenital lung lesions: Postnatal management and outcome.

    PubMed

    Parikh, Dakshesh H; Rasiah, Shree Vishna

    2015-08-01

    Antenatal diagnosis of lung lesion has become more accurate resulting in dilemma and controversies of its antenatal and postnatal management. Majority of antenatally diagnosed congenital lung lesions are asymptomatic in the neonatal age group. Large lung lesions cause respiratory compromise and inevitably require urgent investigations and surgery. The congenital lung lesion presenting with hydrops requires careful postnatal management of lung hypoplasia and persistent pulmonary hypertension. Preoperative stabilization with gentle ventilation with permissive hypercapnia and delayed surgery similar to congenital diaphragmatic hernia management has been shown to result in good outcome. The diagnostic investigations and surgical management of the asymptomatic lung lesions remain controversial. Postnatal management and outcome of congenital cystic lung lesions are discussed.

  15. Screening programme for congenital toxoplasmosis in France.

    PubMed

    Thulliez, P

    1992-01-01

    The high prevalence of Toxoplasma gondii infection in France led to the establishment of a national screening programme. Preventive measures were progressively introduced, and these became compulsory in 1978 with the result that the incidence of congenital toxoplasmosis is now markedly reduced. Further improvements may include more systematic sampling from women before pregnancy, better and adequate health education and centralized notification of both maternal and congenital cases of toxoplasmosis.

  16. Congenital bilateral sternocleidomastoid contracture: a case report.

    PubMed

    Babu, Manohar K V; Lee, Peter; Mahadev, Arjandas; Lee, Eng Hin

    2009-05-01

    Unilateral sternocleidomastoid muscle contracture causing torticollis and other secondary deformities such as facial scoliosis, plagiocephaly and scoliosis of cervical spine are well known. The aetiology and pathogenesis is still intriguing. Although unilateral contracture of sternocleidomastoid is seen quite often, bilateral sternocleidomastoid contracture is almost unheard of. A review of the English literature revealed no cases of bilateral congenital sternocleidomastoid contracture being reported. We present a case report of a 19-year-old girl with congenital bilateral sternocleidomastoid contracture.

  17. Congenital hemangiopericytoma: two cases of familiar presentation.

    PubMed

    Margarit, J; Rodó, J; Costa, J M; Vives, E; Escorihuela, F; Cardesa, A; Ribalta, T

    1997-08-01

    We report two cases of congenital hemangiopericytoma localized in the abdominal wall in the first patient and scalp in the second. The treatment of both cases consisted in the complete resection of the tumor mass. Four and two years later the patients remain asymptomatic. The special interest in this case report lies in the extremely low incidence of congenital hemangiopericytoma and that this is the first reference to affected siblings.

  18. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  19. Mediastinal bronchogenic cyst mimicking congenital lobar emphysema.

    PubMed

    Arun, Sumitha; Kumar, Manish; Ross, Benjamin Jeyanth

    2016-09-08

    Bronchogenic cyst (BC) is a rare congenital malformation of the lung. Most patients remain asymptomatic until adulthood while some are symptomatic in the first few years of life. However, symptoms in newborn period are rare. We report a case of a 3-day-old preterm baby with respiratory distress diagnosed as congenital lobar emphysema on chest X-ray. A CT scan revealed a mediastinal cyst causing obstructive lobar emphysema. The cyst was excised and pathological examination was suggestive of BC.

  20. Leber's congenital amaurosis with associated nephronophthisis.

    PubMed

    Roizenblatt, J; Peduti Cunha, L A

    1980-01-01

    The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.

  1. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed Central

    Odièvre, M; Pigé, G; Alagille, D

    1977-01-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin. PMID:869567

  2. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed

    Odièvre, M; Pigé, G; Alagille, D

    1977-05-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin.

  3. Congenital Symmastia: A 3-Step Approach

    PubMed Central

    Allam, Atef A.

    2016-01-01

    Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition.

  4. Approach to the diagnosis of congenital myopathies

    PubMed Central

    North, Kathryn N.; Wang, Ching H.; Clarke, Nigel; Jungbluth, Heinz; Vainzof, Mariz; Dowling, James J.; Amburgey, Kimberly; Quijano-Roy, Susana; Beggs, Alan H.; Sewry, Caroline; Laing, Nigel G.; Bönnemann, Carsten G.

    2017-01-01

    Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic. PMID:24456932

  5. Management of adolescents with congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Poppas, Dix P

    2013-12-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. Copyright © 2013 Elsevier Ltd. All rights reserved.

  6. Management of adolescents with congenital adrenal hyperplasia

    PubMed Central

    Merke, Deborah P; Poppas, Dix P

    2014-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. PMID:24622419

  7. Genetics Home Reference: spondylocarpotarsal synostosis syndrome

    MedlinePlus

    ... Individuals with this disorder can survive into adulthood. Intelligence is generally unaffected, although mild developmental delay has ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Customer Support USA.gov ...

  8. [Congenital erythropoietic porphyria : An update].

    PubMed

    Wenner, C; Neumann, N J; Frank, J

    2016-03-01

    Congenital erythropoetic porphria is a very rare type of autosomal recessive nonacute porphyria. Homozygous or compound heterozygous mutations in the uroporphyrinogen III consynthase gene cause a marked enzymatic deficiency of uroporphyrinogen III consynthase, the fourth enzyme along the heme biosynthetic pathway. Clinically, affected patients are characterized by a moderate to severe photosensitivity. Starting early in infancy, they develop blisters, erosions, and exulcerations in sun-exposed areas of the body, often resulting in scar formation and mutilation. Besides the cutaneous changes, hemolytic anemia, transfusion-dependent pancytopenia, hepatosplenomegaly and liver cirrhosis can occur. Due to increased susceptibility for infections and because of the hematological and hepatic complications, affected individuals have a decreased life expectancy, rarely exceeding 40 years of age. Currently, no causal treatment is available for the disorder. Therefore, the most important therapeutic modality is strict avoidance of sunlight, preferably by inversion of the day-night rhythm, or at least consequent photoprotection with adequate clothing. In severe cases, bone marrow or stem cell transplantation should be considered.

  9. Microtia and congenital aural atresia.

    PubMed

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  10. [Congenital muscular dystrophies in children].

    PubMed

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  11. Congenital abnormalities of the goat.

    PubMed

    Basrur, P K

    1993-03-01

    Congenital abnormalities of genetic and environmental causes constitute a striking proportion of the afflictions seen in goats. These include a variety of malformations and metabolic diseases that could occur in all breeds but tend to exhibit predisposition in some breeds of goats. Genetic abnormalities for which the carrier state is detectable with the aid of enzymes and surface protein markers can be eliminated from goat populations, whereas common polygenic disorders including udder problems in does and gynecomastia in bucks are more difficult to eradicate because the mutant genes responsible for these traits generally do not declare themselves until inbreeding brings together a critical concentration of liability genes to create a crisis. A substantial reduction of common abnormalities in this species, such as intersexuality in dairy breeds, abortion in Angora breed, and arthritis in the Pygmy breed, will require a change in breeders' preference and selection practice. In making these changes, however, the beneficial traits will have to be balanced against the undesirable effects of the selected mutant genes (pleiotropy), which hold the key to success or failure of a breed under domestication.

  12. Diagnosis of congenital fibrinogen disorders.

    PubMed

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

    Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.

  13. 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.

  14. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

    PubMed Central

    Assaf, A A

    2011-01-01

    Congenital loss of innervation to the extra-ocular muscles (EOMs) can have a profound effect on the target muscle. This has been well recognised in Duane's retraction syndrome. However, it has been less emphasised in other congenital oculo-motor disorders. Such congenital ocular motor defects have been expanded to include DRS, congenital fibrosis of EOMs, monocular elevation defect, Möbius syndrome, as well as several other non-ocular muscles supplied by cranial nerves such as facial muscles. Such loss of innervation to motor muscles can be unified as a defined clinical entity, which can be labelled as congenital innervation dysgenesis syndrome or CID for short. CID may also affect other muscles supplied by nerves other than the cranial nerves and may be sensory as well as motor. PMID:21720410

  15. Congenital malaria in Urabá, Colombia

    PubMed Central

    2011-01-01

    Background Congenital malaria has been considered a rare event; however, recent reports have shown frequencies ranging from 3% to 54.2% among newborns of mothers who had suffered malaria during pregnancy. There are only a few references concerning the epidemiological impact of this entity in Latin-America and Colombia. Objective The aim of the study was to measure the prevalence of congenital malaria in an endemic Colombian region and to determine some of its characteristics. Methods A prospective, descriptive study was carried out in the mothers who suffered malaria during pregnancy and their newborns. Neonates were clinically evaluated at birth and screened for Plasmodium spp. infection by thick smear from the umbilical cord and peripheral blood, and followed-up weekly during the first 21 days of postnatal life through clinical examinations and thick smears. Results 116 newborns were included in the study and 80 umbilical cord samples were obtained. Five cases of congenital infection were identified (four caused by P. vivax and one by P. falciparum), two in umbilical cord blood and three in newborn peripheral blood. One case was diagnosed at birth and the others during follow-up. Prevalence of congenital infection was 4.3%. One of the infected newborns was severely ill, while the others were asymptomatic and apparently healthy. The mothers of the newborns with congenital malaria had been diagnosed with malaria in the last trimester of pregnancy or during delivery, and also presented placental infection. Conclusions Congenital malaria may be a frequent event in newborns of mothers who have suffered malaria during pregnancy in Colombia. An association was found between congenital malaria and the diagnosis of malaria in the mother during the last trimester of pregnancy or during delivery, and the presence of placental infection. PMID:21846373

  16. Congenital tumors of the central nervous system.

    PubMed

    Severino, Mariasavina; Schwartz, Erin S; Thurnher, Majda M; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

    2010-06-01

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into "definitely congenital" (present or producing symptoms at birth), "probably congenital" (present or producing symptoms within the first week of life), and "possibly congenital" (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease-free survival.

  17. Genetic Syndromes associated with Congenital Heart Disease.

    PubMed

    Ko, Jung Min

    2015-09-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease.

  18. Prevention and avoidance of congenital malformations.

    PubMed

    Nevin, N C

    1988-06-15

    Many congenital abnormalities do not have either a Mendelian pattern of inheritance or an identifiable chromosome abnormality and are described as 'multifactorial' as it is assumed they are determined by several genes, each with added effects and modified to a greater or lesser extent by environmental factors. They include spina bifida and anencephaly, cleft lip or cleft palate or both, congenital heart defect and congenital dislocation of the hip, and they constitute a major community health problem. Developments in genetics, biochemistry and cytogenetics have presented new approaches to the prevention and avoidance of congenital abnormalities. The approaches available for the avoidance of congenital malformations include the avoidance of harmful environmental factors, the screening of the newborn and early treatment, genetic counselling and antenatal monitoring with selective termination. The prevention of neural-tube defects in 'high risk' mothers can be achieved by periconceptional vitamin supplementation. In Northern Ireland, of 438 fully supplemented women, only 4 (0.98%) infants or fetuses among 407 infants and fetuses examined had a neural-tube defect, whereas of 356 unsupplemented women, 16 (4.7%) infants or fetuses among 337 infants or fetuses examined had a neural-tube defect.

  19. [Molecular-genetic aspects of congenital hypothyroidism].

    PubMed

    Lacka, Katarzyna; Ogrodowicz, Agnieszka

    2004-01-01

    Congenital hypothyroidism manifests a complex of symptoms caused by a total lack or significant deficiency of thyroxine (T4) and triiodothyronine (T3) in foetal life and in the first years of child's life. The incidence of congenital hypothyroidism is 1 per 3000-4000 newborns in the world and l per 4800 in Poland. There are two main causes of congenital hypothyroidism: defects of thyroid development (about 90%), defects of thyroid hormones biosynthesis (~10%), and the more seldom occurring defects of the TBG proteins (thyroxine binding globulin) or resistance. syndrome to thyroid hormones. Defects of thyroid gland development include ectopia, hypoplasia or complete lack of the thyroid (athyreosis). These defects are caused by immunological, factors, drugs as well as genetic factors such as: TSH receptor gene or thyroid transcription factors: PAX 8. TTF l, TTF 2, Pit 1, Prop 1. Defects of thyroid hormones biosynthesis are inherited as autosomal recessive. There are 5 main defects of thyroid hormones biosynthesis: iodide transport (mutation of hNIS gene), iodine oxygenation (mutation of TPO, THOX, PDS genes), the iodination of the tyrosine of thyroglobulin and their conjunction (the mutation of TPO TG, PDS genes), the hydrolysis of the T3 and T4 as well as deiodination. Searching molecular-genetic basis of congenital hypothyroidism may improve its diagnostics, make possible to introduce genetic examination among patients with congenital hypothyroidism and their family members and may make gene therapy possible in the future.

  20. [Congenital heart disease in Mexico. Regionalization proposal].

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge Luis; Curi-Curi, Pedro José; Ramírez-Marroquín, Samuel

    2010-01-01

    Congenital cardiopathies are the most frequent congenital malformations. Reports of its prevalence around the world range from 2.1 to 12.3 for every 1000 newborns. Prevalence in our country remains unknown, but it probably occupies sixth place for mortality in infants less than a year old, and third place for mortality in those aged between 1 and 4 years. Based on birthrate, it is calculated that 10 to 12 000 infants in our country have some cardiac malformation. To understand the magnitude of the problem, it is important to identify the global number of newborns with some congenital cardiopathy each year and the type of malformation that they have, in order to determine the necessary resources and to plan their distribution. The main objective of regionalization is the justification of the resources with an emphasis in the specialized medical services to provide the best results for the patients. Hence, reason, based on the resources of each state, as well as their natality and infant mortality rates related to congenital cardiovascular pathology, we should proceed to regionalize the attention, and to simultaneously create a trustworthy database of the congenital cardiopathies. This should have many benefits, such as increase the number of total attended cases, improve the quality of attention, use appropriately the existent resources, and -surely- decrease the infant mortality.

  1. Congenital scoliosis: an up-to-date

    PubMed Central

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

  2. Congenital scoliosis: an up-to-date.

    PubMed

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, R A; Dughilă, C; Japie, E M; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon.

  3. Molecular Pathophysiology of Congenital Long QT Syndrome.

    PubMed

    Bohnen, M S; Peng, G; Robey, S H; Terrenoire, C; Iyer, V; Sampson, K J; Kass, R S

    2017-01-01

    Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle. Research into cardiac ion channel regulation and mutations that underlie disease pathogenesis has greatly enhanced our knowledge of the causes and clinical management of cardiac arrhythmia. Here we review the molecular determinants, pathogenesis, and pharmacology of congenital Long QT Syndrome. We examine mechanisms of dysfunction associated with three critical cardiac currents that comprise the majority of congenital Long QT Syndrome cases: 1) IKs, the slow delayed rectifier current; 2) IKr, the rapid delayed rectifier current; and 3) INa, the voltage-dependent sodium current. Less common subtypes of congenital Long QT Syndrome affect other cardiac ionic currents that contribute to the dynamic nature of cardiac electrophysiology. Through the study of mutations that cause congenital Long QT Syndrome, the scientific community has advanced understanding of ion channel structure-function relationships, physiology, and pharmacological response to clinically employed and experimental pharmacological agents. Our understanding of congenital Long QT Syndrome continues to evolve rapidly and with great benefits: genotype-driven clinical management of the disease has improved patient care as precision medicine becomes even more a reality.

  4. Congenital basis of posterior fossa anomalies

    PubMed Central

    Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

    2015-01-01

    The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

  5. Congenital lacrimal fistula: A major review.

    PubMed

    Chaung, Jia Quan; Sundar, Gangadhara; Ali, Mohammad Javed

    2016-08-01

    The purpose of this article is to review and summarize the etiopathogenesis, symptomatology, systemic associations, management, complications and clinical outcomes of congenital lacrimal fistulae. The authors performed an electronic database (PubMed, MEDLINE, EMBASE and Cochrane Library) search of all articles published in English on congenital lacrimal fistulae. Congenital subsets of patients from series of mixed lacrimal fistulae were included in the review. These articles were reviewed along with their relevant cross-references. Data reviewed included demographics, presentations, investigations, management, complications and outcomes. The prevalence of congenital lacrimal fistulae is reported to be around 1 in 2000 live births. They are frequently unilateral, although familial cases tend to be bilateral. Lacrimal and systemic anomalies have been associated with lacrimal fistulae. Exact etiopathogenesis is unknown but mostly believed to be an accessory out budding from the lacrimal drainage system during embryogenesis. Treatment is indicated when significant epiphora or discharge is present and is mostly achieved by various fistulectomy techniques with or without a dacryocystorhinostomy. Congenital lacrimal fistulae are a distinct clinical entity with unique features. Surgical management can be challenging and successful outcomes are usually achieved with widely accepted protocols.

  6. Diagnostic criteria for congenital biliary dilatation 2015.

    PubMed

    Hamada, Yoshinori; Ando, Hisami; Kamisawa, Terumi; Itoi, Takao; Urushihara, Naoto; Koshinaga, Tsugumichi; Saito, Takeshi; Fujii, Hideki; Morotomi, Yoshiki

    2016-06-01

    The Diagnostic Criteria for Pancreaticobiliary Maljunction 2013 were published by the Japanese Study Group on Pancreaticobiliary Maljunction (JSGPM) in 2014. The committee of JSGPM for diagnostic criteria for pancreaticobiliary maljunction has established the standard diameter of the bile duct, and a definition of dilatation of the bile duct was proposed in 2014. The committee of JSGPM prepared the diagnostic criteria for congenital biliary dilatation in 2014, and a final revised version was approved in 2015. Congenital biliary dilatation is defined as a congenital malformation involving both local dilatation of the extrahepatic bile duct, including the common bile duct, and pancreaticobiliary maljunction. However, cases associated with intrahepatic bile duct dilatation can also be included. Various kinds of pathological conditions can occur on hepatobiliary systems and pancreas by bile duct dilatation and pancreaticobiliary maljunction. For a diagnosis of congenital biliary dilatation, both abnormal dilatation of the bile duct and pancreaticobiliary maljunction must be evident by either imaging test or anatomical examination. Acquired or secondary dilatation of the bile duct by obstruction due to biliary stones or malignancy should be strictly excluded. Diagnostic criteria for congenital biliary dilatation 2015 were established from Japan representing a world first. © 2016 Japanese Society of Hepato-Biliary-Pancreatic Surgery.

  7. [Evaluation of congenital heart disease in adults].

    PubMed

    Oliver Ruiz, José María; Mateos García, Marta; Bret Zurita, Montserrat

    2003-06-01

    Improvements in the diagnosis and surgical treatment of congenital heart disease during infancy and childhood have resulted in an outstanding increase in the prevalence of these entities during adulthood. Congenital heart disease in the adult represents a new diagnostic challenge to the consultant cardiologist, unfamiliar with the anatomical and functional complexities of cardiac malformations. Assessment of adult congenital heart disease with imaging techniques can be as accurate as in children. However, these techniques cannot substitute for a detailed clinical assessment. Physical examination, electrocardiography and chest x-rays remain the three main pillars of bedside diagnosis. Transthoracic echocardiography is undoubtedly the imaging technique which provides most information, and in many situations no additional studies are needed. Nevertheless, ultrasound imaging properties in adults are not as favorable as in children, and prior surgical procedures further impair image quality. Despite recent advances in ultrasound technologies such as harmonic or contrast imaging, other diagnostic procedures are sometimes required. Fortunately, transesophageal echocardiography and magnetic resonance imaging are easily performed in the adult, and do not require anaesthetic support, in contrast to pediatric patients. These techniques, together with nuclear cardiology and cardiac catheterization, complete the second tier of diagnostic techniques for congenital heart disease. To avoid unnecessary repetition of diagnostic procedures, the attending cardiologist should choose the sequence of diagnostic techniques carefully; although the information this yields is often redundant, it is also frequently complementary. This article aims to compare the diagnostic utility of different imaging techniques in adult patients with congenital heart disease, both with and without prior surgical repair.

  8. Flying and congenital heart disease.

    PubMed

    Macartney, F J

    1984-03-01

    Only those congenital defects carrying a very low risk of complication (either before or after surgical correction) were considered. Atrial Septal Defects--(a) Ostium primum defects should be treated with caution either before or after surgical correction because of the risk of progressive conduction disorders and mitral regurgitation. (b) Ostium secundum defects could be considered for licensing (if the defect is small) or with surgical repair if the right ventricular systolic pressure is normal. (c) Sinus venosus defects--if too small to require surgical repair, licensing may be considered provided ambulatory electrocardiographic monitoring shows no evidence of arrhythmias. Surgery increases the risk of sino-atrial disease, thus licensing should be permitted only where there is no evidence of arrhythmia and adequate cardiological follow-up is possible. Ventricular Septal Defects--Subjects with very small defects not requiring surgical closure may be considered for licensing. Subjects who have had surgical closure have a risk of arrhythmias and should be carefully evaluated. Pulmonary Stenosis--If mild (either before or after surgery) may be licensed, but regular assessment perhaps including right heart catheterization is needed to demonstrate stability of the lesion. Persistent Ductus Arteriosus--Surgical closure should be recommended on diagnosis and need not affect licensing. Isolated Bicuspid Aortic Valve--Need not debar from licensing, but careful annual examination (with electrocardiogram 2-D echocardiography and fluroscopy ) is required to detect calcification, stenosis or regurgitation. Coarctation of aorta--Subjects who have had a repair before the age of 12 years may be considered for licensing after examination of other risk factors (blood pressure at rest and on exercise in particular). Those repaired over the age of 12 may be considered for restricted licensing if normotensive. These recommendations will need review in the light of further long

  9. Handicapping Conditions Associated with the Congenital Rubella Syndrome.

    ERIC Educational Resources Information Center

    Vernon, McCay; And Others

    1980-01-01

    The authors discuss the incidence of impairments diagnosed among children with congenital rubella syndrome. Approximately 73 percent are hearing impaired, at least 35 percent have congenital heart disorders, and 33 percent have visual defects. (Author)

  10. Genetics Home Reference: autosomal dominant congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness autosomal dominant congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is ...

  11. Genetics Home Reference: autosomal recessive congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness autosomal recessive congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Autosomal recessive congenital stationary night blindness is a disorder of the retina , which is ...

  12. Genetics Home Reference: X-linked congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness X-linked congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description X-linked congenital stationary night blindness is a disorder of the retina , which is ...

  13. Genetics Home Reference: congenital cataracts, facial dysmorphism, and neuropathy

    MedlinePlus

    ... Health Conditions CCFDN congenital cataracts, facial dysmorphism, and neuropathy Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Congenital cataracts, facial dysmorphism, and neuropathy ( CCFDN ) is a rare disorder that affects several ...

  14. Precalcaneal congenital fibrolipomatous hamartomas: report of occurrence in half brothers.

    PubMed

    Fangman, William L; Prose, Neil S

    2004-01-01

    Precalcaneal congenital fibrolipomatous hamartomas are uncommon, congenital, nontender papules located on the medial plantar aspects of the heel. We report the occurrence of this rare disorder in two half brothers, suggesting that it may occur in a familial pattern.

  15. Genetics Home Reference: congenital bile acid synthesis defect type 2

    MedlinePlus

    ... bile acid synthesis defect type 2 congenital bile acid synthesis defect type 2 Printable PDF Open All ... view the expand/collapse boxes. Description Congenital bile acid synthesis defect type 2 is a disorder characterized ...

  16. Genetics Home Reference: congenital bile acid synthesis defect type 1

    MedlinePlus

    ... bile acid synthesis defect type 1 congenital bile acid synthesis defect type 1 Printable PDF Open All ... view the expand/collapse boxes. Description Congenital bile acid synthesis defect type 1 is a disorder characterized ...

  17. What proportion of congenital abnormalities can be prevented?

    PubMed Central

    Czeizel, A E; Intôdy, Z; Modell, B

    1993-01-01

    OBJECTIVE--To estimate the proportion of preventable congenital abnormalities in Hungary. DESIGN--Analysis of available Hungarian data-bases and of the effectiveness of primary, secondary, and tertiary preventive methods. SETTING--Databases of ad hoc epidemiological studies and of the Hungarian congenital abnormality registry. MAIN OUTCOME MEASURES--Prevalence at birth and prevalence after prevention in 73 congenital abnormality types or groups. RESULTS--Preventive methods are available for 51 (70%) of the 73 congenital abnormality types or groups evaluated. The birth prevalence of all congenital abnormalities could be reduced from 65 to 26 per 1000; thus 39 per 1000 (60%) are preventable. Without congenital dislocation of the hip, which is unusually common in Hungary, the preventable proportion of congenital abnormalities is 52%. CONCLUSION--Many congenital abnormalities can be prevented, but as they do not represent a single pathological category there is no single strategy for their prevention. Images p502-a p503-a PMID:8448464

  18. Deprivation amblyopia and congenital hereditary cataract.

    PubMed

    Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

    2013-01-01

    Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

  19. Cytogenomic Aberrations in Congenital Cardiovascular Malformations

    PubMed Central

    Azamian, Mahshid; Lalani, Seema R.

    2016-01-01

    Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades. PMID:27385961

  20. A twin study of congenital hemiplegia.

    PubMed

    Goodman, R; Alberman, E

    1996-01-01

    Twins were more than three times more common in a large sample of London children with congenital hemiplegia than in the general population. This over-representation of twins could largely be explained by their higher rate of preterm birth, though twin-specific risk factors, including the consequences of a co-twin's death in utero, may also have played a part. None of the 34 co-twins who survived infancy had hemiplegia or any other form of cerebral palsy. Among 155 siblings of singletons with congenital hemiplegia, no child had hemiplegia and only one had cerebral palsy. Perhaps it is chance rather then genetic liability or an adverse environment that primarily governs who does and does not become congenitally hemiplegic.

  1. Treatment of Common Congenital Hand Conditions

    PubMed Central

    Oda, Takashi; Pushman, Allison G.; Chung, Kevin C.

    2015-01-01

    Objective After reading this article, the participant should be able to: 1. Recognize the clinical features associated with five common congenital hand conditions. 2. Describe the indications and appropriate timing for various surgical procedures used to treat congenital hand anomalies. 3. Identify the pearls and pitfalls of these surgical treatments in order to avoid complications. 4. Understand the expected post-operative outcomes associated with these surgical procedures. Summary This article will provide an introduction to congenital hand differences by focusing on practical surgical strategies for treating five commonly encountered conditions including syndactyly, constriction ring syndrome, duplicated thumb, hypoplastic thumb and trigger thumb. The accompanying videos will demonstrate common and reliable surgical techniques for syndactyly release, duplicated thumb reconstruction and pollicization for hypoplastic thumb. PMID:20811188

  2. Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis.

    PubMed

    Salman, Michael S; Clark, Ian H

    2017-01-01

    Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin crease. We attribute this uncommon sign in congenital ptosis to stiffness and presumed fibrosis of the levator muscle. Examining the function of the eyelids in all directions of gaze is important in patients with abnormalities of lid position, since additional useful information can be gleaned about the status of the levator muscle including, aberrant regeneration or fibrosis.

  3. Congenital midline sinus of the upper lip.

    PubMed

    Fok, Denise; Kua, Ee Hsiang Jonah; Por, Yong Chen

    2015-06-01

    A congenital lip sinus is a rare condition that has been reported to occur in both the upper and lower lips, either in isolation or in association with congenital deformities such as a cleft lip and palate in Van der Woude syndrome. The prevalence of lower lip sinuses has been estimated to be about 0.00001% of the white population. Upper lip sinuses are even more uncommon. To date, there have been several case reports of upper lip sinuses and fistulas, but no similar cases have been described in Singapore. We herein report a case of congenital upper lip sinus presenting as a recurring upper lip abscess and review the current literature on this condition.

  4. Surgical treatment for complications of congenital retinoschisis.

    PubMed

    You, Jiang

    2011-06-01

    This study examined the clinical features of complications of congenital retinoschisis and the clinical efficacy of vitreoretinal surgery in the treatment of these complications. The clinical efficacy of surgical treatments was retrospectively analyzed in 10 patients with congenital retinoschisis (10 eyes) complicated with rhegmatogenous retinal detachment (n=5), vitreous hemorrhage (n=2) and macula- involving schisis (n=1). All the patients suffered foveal and peripheral schisis. They were treated with scleral buckling (n=1) or vitrectomy (n=9). After the surgical treatment, the retina was reattached in patients with rhegmatogenous retinal detachment; the refractive media became transparent in those with vitreous hemorrhage; the visual acuity in 80% of patients was improved; no remarkable progression of schisis was found; no severe operative complications occurred. It was concluded that vitreoretinal surgery in the treatment of complications of congenital retinoschisis is safe and effective, and helps improve and maintain the visual function.

  5. New Genetic Insights into Congenital Heart Disease

    PubMed Central

    Ware, Stephanie M.; Jefferies, John Lynn

    2012-01-01

    There has been remarkable progress in understanding the genetic basis of cardiovascular malformations. Chromosome microarray analysis has provided a new tool to understand the genetic basis of syndromic cardiovascular malformations resulting from microdeletion or microduplication of genetic material, allowing the delineation of new syndromes. Improvements in sequencing technology have led to increasingly comprehensive testing for aortopathy, cardiomyopathy, single gene syndromic disorders, and Mendelian-inherited congenital heart disease. Understanding the genetic etiology for these disorders has improved their clinical recognition and management and led to new guidelines for treatment and family-based diagnosis and surveillance. These new discoveries have also expanded our understanding of the contribution of genetic variation, susceptibility alleles, and epigenetics to isolated congenital heart disease. This review summarizes the current understanding of the genetic basis of syndromic and non-syndromic congenital heart disease and highlights new diagnostic and management recommendations. PMID:22822471

  6. Congenital narrowing of the cervical spinal canal.

    PubMed Central

    Kessler, J T

    1975-01-01

    The clinical and laboratory findings in six patients with congenital narrowing of the cervical spinal canal and neurological symptoms are described. A variable age of onset and an entirely male occurrence were found. Signs and symptoms of spinal cord dysfunction predominated in all but one patient. Symptoms were produced in five patients by increased physical activity alone. Congenital narrowing of the cervical spinal canal may result in cord compression without a history of injury and occasionally without evidence of significant bony degenerative changes. The clinical features may be distinguishable from those found in cervical spondylosis without congenital narrowing. Intermittent claudication of the cervical spinal cord appears to be an important feature of this syndrome. Surgery improved four out of five people. PMID:1219087

  7. [Neonatal cutaneous hematopoiesis disclosing congenital rubella].

    PubMed

    Penouil, M H; Bressieux, J M; Mehaut, S; Hopfner, C

    1996-01-01

    Congenital rubella, which should disappear with widespread vaccination and mandatory obstetrical care, can occur as a purpuric eruption in the newborn. We report a case of blueberry muffin baby. An infant delivered after an "uneventful" pregnancy presented a generalized "purpuric" eruption and had axial hypotonia. Histology of a biopsy showed evidence of cutaneous erythropoiesis. The complete workup led to the diagnosis of congenital rubella. Cutaneous erythropoiesis is a well defined clinical and histological entity. There are several causes including infection and hematology disorders. Metastasis of a neuroblastoma, which must be eliminated by early biopsy, is the main differential diagnosis. Blueberry muffin rash is never idiopathic. The prognosis depends on the cause. Physicians should remember that congenital rubella has not yet been completely eradicated in France.

  8. 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.

  9. Eyelid Retraction in Isolated Unilateral Congenital Blepharoptosis

    PubMed Central

    Salman, Michael S.; Clark, Ian H.

    2017-01-01

    Isolated unilateral congenital ptosis is encountered relatively infrequently in clinical practice. It typically consists of a unilateral droopy eyelid, weak levator palpebrae superioris muscle function, lid lag, and an absent upper lid crease with no other abnormalities on examination. We present a four-and-a-half-year-old girl with isolated and mild unilateral congenital ptosis who unexpectedly demonstrated a static upper eyelid on downgaze in conjunction with a well-formed upper lid skin crease. We attribute this uncommon sign in congenital ptosis to stiffness and presumed fibrosis of the levator muscle. Examining the function of the eyelids in all directions of gaze is important in patients with abnormalities of lid position, since additional useful information can be gleaned about the status of the levator muscle including, aberrant regeneration or fibrosis. PMID:28529498

  10. Congenital malformations of the brain and spine.

    PubMed

    Shankar, Prashant; Zamora, Carlos; Castillo, Mauricio

    2016-01-01

    In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.

  11. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    PubMed

    Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

    2015-11-01

    Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations.

  12. Congenital complete and partial absence of the left pericardium.

    PubMed

    Jurko, Alexander; Minarik, Milan; Cisarikova, Viera; Polacek, Hubert; Schusterova, Ingrid

    2013-09-01

    Congenital absence of pericardium is a rare malformation. We report 2 young patients with a diagnosis of congenital absence of the pericardium. The posteroanterior view of the chest X-ray showed displacement of the left cardiac border into the left hemithorax. Unusual acoustical windows and abnormal cardiac and septal motion during echocardiography suggested the diagnosis of congenital absence of pericardium. Magnetic resonance imaging definitive confirmed diagnosis of congenital absence of pericardium.

  13. Air pollution and congenital heart defects.

    PubMed

    Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava

    2013-07-01

    Environmental factors such as ambient air pollution have been associated with congenital heart defects. The aim of this study was to investigate the association between gestational exposure to air pollution and the risk of congenital heart defects. We conducted a registry-based cohort study with a total of 135,527 live- and still-births in the Tel-Aviv region during 2000-2006. We used a Geographic Information System-based spatiotemporal approach with weekly inverse distance weighting modeling to evaluate associations between gestational exposure to ambient air pollution during weeks 3-8 of pregnancy and the risk for congenital heart defects. The following pollutants were studied: carbon monoxide, nitrogen-dioxide, ozone, sulfur-dioxide and particulate matter with aerodynamic diameter smaller than 10 μm and 2.5 μm (PM10, PM2.5 respectively). Logistic models, adjusted for socio-demographic covariates were used to evaluate the associations. We found that maternal exposure to increased concentrations of PM10 was associated with multiple congenital heart defects (adjusted OR 1.05, 95% CI: 1.01 to 1.10 for 10 μg/m(3) increment). An inverse association was observed between concentrations of PM2.5 and isolated patent ductus arteriosus (adjusted OR 0.78, 95% CI: 0.68 to 0.91 for 5 µg/m(3) increment). Sensitivity analyses showed that results were consistent. Generally there were no evidence for an association between gaseous air pollutants and congenital heart defects.Our results for PM10 and congenital heart defects confirm results from previous studies. The results for PM2.5 need further investigations.

  14. Epidemiology of congenital heart disease in Brazil

    PubMed Central

    Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

    2015-01-01

    Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

  15. Congenital chylothorax in newborn with trisomy 21.

    PubMed

    Lomauri, Kh

    2014-11-01

    Neonatal chylothorax results from the accumulation of chyle in the pleural space and may be either congenital or an acquired condition. Congenital chylothorax is most likely due to abnormal development or obstruction of the lymphatic system. It is often associated with hydrops fetalis. It can be idiopathic or may be associated with various chromosomal anomalies including Trisomy 21, Turner syndrome, Noonan syndrome, and other genetic abnormalities. Congenital pulmonary lymphangiectasia and generalized lymphangiomatosis have also been reported to be associated with congenital chylothorax. Several case reports indicate that congenital chylothorax can recur in subsequent offspring, suggesting a possible underlying genetic etiology. It is important to identify infants with chylothorax, as there are specific issues that need to be addressed in the management of these patients. We present a case of newborn with trysomy 21 (trisomy 21 was diagnosed antenatally by amniocentesis with support of Association "Perinatology"), who developed moderate Respiratory Distress Syndrome, chest X-ray and US reveal pleural effusion on right side rapid intervention was made before deterioration, requiring intensive life-saving measures. In the neonate, chylous effusion is not a common cause of pleural effusions. It is characterized as an exudate because of the high protein and lipid content once the infant is fed. The fluid will be clear/yellow to slightly cloudy in the unfed state and will quickly become milky following feeding, as chylomicrons appear in the fluid. Lymphocytes predominate in the differential cell count of chyle. The volume of fluid output can be high, and management can be challenging. We review the common manifestations of congenital chylotoraxes and emphasize the importance of early diagnosis and intervention in preventing devastating outcomes from this condition.

  16. Demographic features of subjects with congenital glaucoma

    PubMed Central

    Tamçelik, Nevbahar; Atalay, Eray; Bolukbasi, Selim; Çapar, Olgu; Ozkok, Ahmet

    2014-01-01

    Context: Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem. Aims: To demonstrate the demographic features of congenital glaucoma subjects. Setting and Design: The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013. Materials and Methods: Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception. Statistical Analysis Used: Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables. Results: The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively. Conclusions: Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant. PMID:24881602

  17. Symptoms of Autism among Children with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

  18. [Congenital lobar hyperinflation: conservative management as an alternative therapy].

    PubMed

    Hermoso Torregrosa, C; Moreno Medinilla, E; Pérez Ruiz, E; Caro Aguilera, P; Pérez Frías, F J

    2014-07-01

    Congenital lobar emphysema used to be treated surgically. Congenital lobar hyperinflation is the currently recommended term, as it involves pathologically healthy lung tissue, which is why conservative management may be an option. Four cases of diagnosed congenital lobar hyperinflation are presented in which conservative treatment was chosen due to their clinical stability. Their outcome has been satisfactory with progressively normal radiology.

  19. Symptoms of Autism among Children with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

  20. Congenital torticollis caused by unilateral absence of the sternocleidomastoid muscle.

    PubMed

    Raman, Subha; Takhtani, Deepak; Wallace, E Christine

    2009-01-01

    Congenital torticollis is most commonly caused by benign fibrosis of the sternocleidomastoid muscle. Absence of the sternocleidomastoid muscle is a rare cause of congenital torticollis. There have been fewer than a dozen reported cases of agenesis of the sternocleidomastoid muscle. We describe a case of congenital absence of the sternocleidomastoid diagnosed by US and confirmed on MRI.

  1. NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM.

    PubMed

    Ali, Mazahir; Zia, Aisha; Siddiqui, Saad Ebrahim

    2015-01-01

    Congenital Hypothyroidism is one of the most common preventable causes of mental retardation which is highly prevalent in our society due to lack of a national neonatal screening program, lack of education of the parents, increased consanguinity, and lack of suspicion from doctor's leads to delayed diagnosis and an increased incidence of congenital hypothyroidism in our society. This Menace can be easily tackled with a mass neonatal screening program and effective legislation which would make sure that serious efforts are being made to eradicate this preventable disease from Pakistan.

  2. Congenital Minamata disease: warnings from Japan's experience.

    PubMed

    Kondo, K

    2000-07-01

    Minamata disease is alkylmercury poisoning causing Hunter-Russell syndrome due to ingestion of seafood polluted by industrial waste. Two epidemics occurred in Minamata (1956) and Niigata (1965), Japan. Many infants with "cerebral palsy" in villages where adult cases occurred were established as having congenital Minamata disease. Developing brains were affected by alkylmercury through transplacental exposure and even by breastfeeding. This report reviews the history, clinical features, pathology, epidemiology, metal analysis, experiments, and sociolegal aspects of congenital Minamata disease. Many victims are still alive and their present conditions are reviewed.

  3. Congenital color blindness in young Turkish men.

    PubMed

    Citirik, Mehmet; Acaroglu, Golge; Batman, Cosar; Zilelioglu, Orhan

    2005-04-01

    We investigated a healthy population of men from different regions of Turkey for the presence of congenital red-green color blindness. Using Ishihara pseudoisochromatic plates, 941 healthy men from the Turkish army were tested for congenital red-green color blindness. The prevalence of red-green color blindness was 7.33 +/- 0.98% (5.10% protans and 2.23% deutans). These ratios were higher than other reported samples from Mediterranean Europe. Higher percentages of color blindness were found in regions with a lower education level and more consanguineous marriages.

  4. Giant congenital diaphragmatic hernia in an adult

    PubMed Central

    2014-01-01

    Bochdalek hernia is the most common type of congenital diaphragmatic hernia. It appears frequently in infants but rarely in adults. We present the case of a 50-year-old female han patient with tremendous left-sided congenital posterolateral diaphragmatic hernia (Bochdalek hernia) who also has a pair of supernumerary breasts and pulmonary hypoplasia of the lower-left lobe. The patient had an experience of misdiagnosis and she was treated for bronchitis for one year until being admitted to our hospital. This case study emphasizes the rare presentation of Bochdalek hernia in adults and the necessity of high clinical attention to similar cases. PMID:24512974

  5. Acquired Congenital Malalignment of the Great Toenails

    PubMed Central

    Decker, Ashley; Scher, Richard K.; Avarbock, Andrew

    2016-01-01

    Congenital malalignment is the lateral deviation of the nail plate along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges caused by repeated microtrauma to the nail. Common complications include onychomycosis, Pseudomonas infection and acute or chronic paronychia. Treatment options range from conservative management to surgical options including realignment and nail matrixectomy. Congenital malalignment usually presents in infancy or childhood, but we present two cases of acquired malalignment occurring in the teenage years. PMID:27171597

  6. [A neonatal case of congenital myotonic dystrophy].

    PubMed

    Ghizzi, C; Cavalli, C; Benedetti, M; Bolognani, M; Biban, P

    2000-01-01

    Congenital myotonic dystrophy is a rare autosomal disease, caused by an increased number of cytosine-thymine-guanine (CTG) trinucleotide on chromosome 19q. In the neonatal period the most peculiar clinical features are arthrogryposis, hypotonia, facial diplegia, respiratory and feeding difficulties. Clinical and electrical myotonic discharges are difficult to elicit in the newborn. We report a case of congenital myotonic dystrophy in a female newly born presenting with hypotonia, diaphragmatic paralysis, facial diplegia, and contractures of hips, knees and ankles. The diagnosis was confirmed by genetical study on lymphocyte DNA.

  7. Prevention of Maternal and Congenital Cytomegalovirus Infection

    PubMed Central

    Johnson, Julie; Anderson, Brenna; Pass, Robert F.

    2012-01-01

    Congenital cytomegalovirus (CMV) infection is an important cause of hearing impairment, mental retardation and cerebral palsy. Principal sources of infection during pregnancy are young children and intimate contacts. Prevention of maternal and congenital CMV infection depends on counseling women regarding the sources of infection and hygienic measures that might prevent infection. There is currently insufficient evidence to support use of antiviral treatment or passive immunization for post-exposure prophylaxis of pregnant women or as a maternal treatment aimed at preventing fetal infection. Vaccines for CMV are under development but it will be a number of years before one is licensed. PMID:22510635

  8. Congenital Absence of the Internal Carotid Artery

    SciTech Connect

    Florio, Francesco; Balzano, Silverio; Nardella, Michele; Strizzi, Vincenzo; Cammisa, Mario; Bozzini, Vincenzo; Catapano, Giuseppe; D'Angelo, Vincenzo

    1999-01-15

    We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography.

  9. [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.

  10. New approaches to managing congenital diaphragmatic hernia.

    PubMed

    Ivascu, Felicia A; Hirschl, Ronald B

    2004-06-01

    A number of new techniques have been studied for managing newborns with congenital diaphragmatic hernia and respiratory insufficiency. Among these have been the techniques of delayed approach to the repair of the diaphragmatic hernia; permissive hypercapnia; nitric oxide and surfactant administration; intratracheal pulmonary ventilation; liquid ventilation; perfluorocarbon-induced lung growth; and lung transplantation. These interventions are at various stages of development and evaluation of effectiveness. All, however, are being explored in the hopes of improving outcome in patients with congenital diaphragmatic hernia who continue to have significant morbidity and mortality in the newborn period.

  11. Congenital dislocation of the patella - clinical case.

    PubMed

    Miguel Sá, Pedro; Raposo, Filipa; Santos Carvalho, Manuel; Alegrete, Nuno; Coutinho, Jorge; Costa, Gilberto

    2016-01-01

    Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

  12. [Cases of congenital eye malformations in children].

    PubMed

    Modrzejewska, Monika; Lachowicz, Ewelina; Karczewicz, Danuta

    2011-01-01

    The aim of this work was to present a clinical picture of congenital defects in the anterior and posterior segment of the eye and coexisting systemic developmental anomalies in a group of children during the infantile period. We performed a retrospective analysis in a group of 1507 infants seen at our outpatient ophthalmology clinic in 2006-2010. Attention was focused on case histories of nine children (0.6%) with congenital defects of the eye. A routine ophthalmologic examination was done and photographs of the anterior and posterior segment of the eye were archived with the Ret - Cam II apparatus. Maternal risk factors during pregnancy and the perinatal period were analyzed, as well as genetic, familial, infectious, traumatic, metabolic, and toxic factors, and drugs which could have contributed to the pathology of the organ of vision. Additionally, congenital polydysplasia was confirmed using ultrasonography, radiography, and imaging techniques (USG, X-ray, MRI). Congenital anomalies of the anterior and posterior segment of the eye were identified in the study group. Abnomalities of the anterior segment of the eye in four infants were in the form of congenital corneal anomalies (keratopathy, microcornea, sclerocornea, congenital mesenchymal dysgenesis), coloboma of the iris, and aniridia. Additionally, ectopic pupil, congenital cataract, aplasia of the lacrimal point, and palpebral coloboma were observed. Developmental anomalies of the posterior segment of the eye in the form of persistent hyperplastic primary vitreous body or primary fetal vasculature syndrome (PHVB or PFVS), choroid coloboma, coloboma of the optic nerve, and optic disc fovea were recognized in eight children. Anomalies of the anterior and posterior segment of the eye were observed in three children and were associated with microphthalmia, nystagmus, and strabismus. Moreover, systemic anomalies coexisting with ophthalmologic defects were confirmed in 6 children. They were seen in the heart

  13. Giant congenital diverticulum of the right atrium.

    PubMed

    Tomar, Munesh; Radhakrishnan, Sitaraman; Iyer, Krishna Subramony; Shrivastava, Savitri

    2008-01-01

    Congenital diverticulum of heart is a rare entity, which may arise from the atria, atrial appendages, coronary sinus or the ventricles. A 3-year-old child presented with history of early fatigability for 6 months and recent upper respiratory tract infection. Chest X-ray and echocardiogram revealed marked right atrial enlargement. At surgery, a right atrial diverticulum was excised under cardiopulmonary bypass. Pathology revealed thickened endocardium with edema and myocardial fiber hypertrophy. Our experience with this rare congenital disease is presented along with a review of the literature.

  14. Congenital malformations of the temporal bone.

    PubMed

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  15. A peculiar case of facial congenital nevus.

    PubMed

    Scaglioni, Mario F; Bauer, M T; Giuseppe, Alberto Di

    2014-08-01

    Reconstruction of congenital nevi is difficult and challenging, but becomes even more so when they occur on the face due to functional and aesthetic reasons. Traditionally, these lesions have been treated with tissue expansion, sequential resection, and local flap closure with or without skin grafts. Here, we present a case reconstructing a large facial defect involving the entire cheek facial subunit following excision of a giant congenital nevus with a free anterolateral thigh flap. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  16. Congenital myasthenic syndromes and transient myasthenia gravis.

    PubMed

    Gajda, Anna; Szabó, Hajnalka; Gergev, Gyurgyinka; Karcagi, Veronika; Szabó, Nóra; Endreffy, Emoke; Túri, Sándor; Sztriha, László

    2013-05-30

    Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis.

  17. Congenital agminated melanocytic nevus - case report*

    PubMed Central

    da Rocha, Camila Roos Mariano; Grazziotin, Thaís Corsetti; Rey, Maria Carolina Widholzer; Luzzatto, Laura; Bonamigo, Renan Rangel

    2013-01-01

    Agminated nevus is a cluster group of melanocytic nevi confined to a localized area of the body. There are many pigmented lesions described in the literature as agminated, such as blue nevi, multiple lentigines and Spitz nevi, but only a few cases of congenital agminated melanocytic nevi have been described. We report a case of a male child who presented with congenital agminated nevi, emphasizing the importance of physical examination, dermoscopy, histopathological evaluation, differential diagnosis and follow up to rule out the possibility of dysplastic or malignant changes. PMID:24346910

  18. The incidence of congenitally absent foot pulses.

    PubMed Central

    Robertson, G. S.; Ristic, C. D.; Bullen, B. R.

    1990-01-01

    The pedal pulses of 547 young healthy subjects were examined using digital palpation and a Doppler probe to determine the incidence of congenitally absent foot pulses. The posterior tibial (PT) pulse was absent in only one subject (0.18%), while the dorsalis pedis (DP) pulse was bilaterally absent in nine subjects (1.8%) and unilaterally absent in a further six subjects. The low incidence of congenital absence makes the clinical finding of an absent pedal pulse in later life a more significant marker of peripheral vascular disease than current surgical texts would have us believe. PMID:2185683

  19. Recurrent congenital fibrosarcoma with heart metastases.

    PubMed

    Lohi, Olli; Vornanen, Martine; Kähkönen, Marketta; Vettenranta, Kim; Parto, Katriina; Arola, Mikko

    2012-07-01

    Congenital fibrosarcomas are malignant tumors that arise in soft tissues. In infants this unique tumor does not commonly metastasize, even though there may be local recurrences. We report here a boy who had congenital fibrosarcoma in his right foot, which was completely excised at the age of 3 days. Four months later, a solitary encapsulated metastasis emerged in thoracic chest wall, which was operated. During adjuvant chemotherapy he developed histologically confirmed fibrosarcoma metastases in the heart. After extended treatment with cyclophosphamide/topotecan and gemcitabine/docetaxel, the heart tumors disappeared and he has been in complete remission for 3 years.

  20. Bone lesions in early congenital syphilis.

    PubMed

    Rosen, E U; Solomon, A

    1976-01-31

    A radiological study of bone changes in 112 children with congenital syphilis was undertaken. A similar number of normal children acted as a control group. Radiological examination of 5 syphilitic children showed that their bones were normal. Combined metaphyseal and periosteal lesions were the commonest bone disorders seen and are thus the most convincing radiological evidence of congenital syphilis. Transverse metaphyseal lucencies occur early in the disease, and with Wimburger's sign they are the prime evidence of pathology in syphilitic bone. Other radiographic changes are probably owing to minimal trauma in fragile disorganized bone. The occurrence of periosteal lesions alone has also been evaluated.

  1. Leber's congenital amaurosis associated with hyperthreoninemia.

    PubMed

    Hayasaka, S; Hara, S; Mizuno, K; Narisawa, K; Tada, K

    1986-04-15

    Two siblings had Leber's congenital amaurosis. The girl (Patient 1) showed blindness shortly after birth, absent pupillary light reflex, and multiple round, white spots in both fundi. Her serum threonine level was increased (2.0 to 5.3 mg/dl; normal, 0.78 to 1.82 mg/dl). She died of massive pericardial effusion four months after birth. Her brother (Patient 2) was nearly blind shortly after birth. He had a poor pupillary light reflex and a nearly extinguished electroretinographic response. He also had hyperthreoninemia, hyperthreoninuria, hepatomegaly, and mental and physical retardation. We suspect a close relationship between hyperthreoninemia and Leber's congenital amaurosis in these siblings.

  2. Leber's congenital amaurosis associated with mitochondrial dysfunction.

    PubMed

    Castro-Gago, M; Pintos-Martínez, E; Beiras-Iglesias, A; Maroto, S; Campos, Y; Arenas, J; Eirís-Puñal, J

    1996-03-01

    We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain.

  3. [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.

  4. 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.

  5. Radiographic findings in congenital lead poisoning

    SciTech Connect

    Pearl, M.; Boxt, L.M.

    1980-07-01

    Because lead crosses the placenta throughout pregnancy, the fetus is at risk for lead poisoning. A full term, asymptomatic child was born with congenital lead poisoning secondary to maternal pica. Radiographic findings of a dense cranial vault, lead lines, and delayed skeletal and deciduous dental development were noted at birth. After chelation therapy, when the patient was seven months old, radiographs revealed normal skeletal maturation. Tooth eruption did not occur until 15 months of age. Newborn infants with these radiographic findings should be screened for subclinical, congenital lead poisoning.

  6. Outcome of congenital adrenal hyperplasia.

    PubMed

    Kuhnle, U; Bullinger, M

    1997-09-01

    In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, affected girls are born with ambiguous genitalia due to increased secretion of androgens in utero by the defective adrenal gland. Even though it is generally accepted that there are differences between male and female brain development, determining factors have been difficult to identify. Girls with CAH have frequently been studied to evaluate the impact of prenatal androgen exposure on psychological, psychosocial, and psychosexual development, and impairments in various areas have been identified. However, there is no comprehensive study available regarding the outcome of this chronic disorder in adult life. We studied the quality of life in women with CAH, with particular emphasis on how they cope with genital malformations, genital operations, and chronic disease as well as lifelong medication. The patients filled out questionnaires covering their physical state, psychological well-being, social relationships, and functional capacity, as well as questionnaires on psychosexual identification and psychosocial integration. The results were evaluated using a computerized statistical program for social studies. Out of a total of 94 patients above 18 years of age, 45 agreed to participate and were compared to 46 healthy, age-matched controls. Age at diagnosis was 2. 31 +/- 1.55 years and 38% suffered from the simple-virilizing, 45% from the salt-wasting, and 17.0% from the late-onset form of CAH. About one-third of patients had Prader stage 3 or 4 genital virilization. While the overall quality of life did not differ significantly, CAH patients were more often single (47.8% vs. 66.7%) and fewer of them had children (22.2% vs. 38.6%) compared to controls. Significant impairments were found in regard to body image and attitudes toward sexuality, but there was no increased homosexual preference. The women were successful in adjusting to illness and receiving social support. It is speculated that

  7. DNA methylation abnormalities in congenital heart disease.

    PubMed

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  8. Congenital hepatic cyst with intracystic hemorrhage

    PubMed Central

    Ni, Qingqiang; Zhang, Minfeng; Yang, Cheng; Cai, Wenchang; Zhao, Qian; Shen, Weifeng; Yang, Jiamei

    2016-01-01

    Abstract Introduction: Fast-growing congenital hepatic cysts with intracystic hemorrhage are rare in clinical practice. Additionally, the clinical manifestations of and laboratory and imaging findings for this condition are often nonspecific and are particularly difficult to differentiate from those of hepatobiliary cystadenoma and cystadenocarcinoma, thus posing great challenges for diagnosis and treatment. The 2 case reports presented here aim to analyze the diagnosis and treatment of 2 rare cases of congenital hepatic cysts with intracystic hemorrhage in the Chinese Han population to provide an important reference for the clinical diagnosis and treatment of this condition. Diagnoses: These 2 case reports present 2 rare cases of congenital hepatic cysts with intracystic hemorrhage. Case 1 involved a 31-year-old patient with a very large, fast-growing hepatic cyst with intracystic hemorrhage and elevated carbohydrate antigen 199. Case 2 involved a patient with intense, paroxysmal right upper abdominal pain; computed tomography suggested a hepatic cyst with intracystic hemorrhage and possibly hepatobiliary cystadenoma. Outcomes: Both patients underwent liver resection. Postoperative follow-up showed that for both patients, the symptoms improved, the laboratory findings returned to normal levels, and the surgical outcomes were satisfactory. Conclusion: Liver resection is an ideal treatment for patients with congenital hepatic cysts with intracystic hemorrhage, and especially those with fast-growing, symptomatic hepatic cysts or hepatic cysts that are difficult to differentiate from hepatobiliary cystadenoma and cystadenocarcinoma. PMID:27759646

  9. [Congenital megaprepuce: diagnosis and terapeutic management].

    PubMed

    Delgado Oliva, F J; Domínguez Hinarejos, C; Serrano Durbá, S; Estornell Moragues, F; Martínez Verduch, M; García Ibarra, F

    2006-01-01

    [corrected] To analize the clinical presentation, diagnosis and surgical management of congenital megaprepuce (CM). We have made a retrospective study of four cases of CM diagnosed and treated in our centre between october 1997 and april 2005. We studied the diagnosis and surgical treatment. CM is an infrecuent condition that can be confused with others pathologies. It's necessary to diagnose and treat it correctly.

  10. Congenital tuberculosis: presentation of a rare case.

    PubMed

    Şen, Velat; Selimoğlu Şen, Hadice; Aktar, Fesih; Uluca, Ünal; Karabel, Müsemma; Fuat Gürkan, Mehmet

    2015-04-01

    Congenital tuberculosis is a rare disease with a high mortality rate. Congenital tuberculosis is considered the result of mother-to-child transmission from the placenta to the fetus, through the ingestion of the amniotic fluid, or via transplacental transmission through the umbilical vein. Given the non-specific clinical signs of tuberculosis, it is usually difficult to diagnose it. The case of a 48-day-old male infant hospitalized due to weight loss, fever, cough, hemoptysis, and respiratory distress for the past 20 days, is presented. In this period, he had received broad spectrum antibiotics but with no improvement. A chest x-ray showed the presence of consolidation and a cavitary lesion in the upper and middle left lung fields. Mycobacterium tuberculosis was detected by polymerase chain reaction in a bronchoalveolar lavage specimen. Congenital tuberculosis was diagnosed based on this finding; hence, a tuberculostatic regimen was started accordingly. The patient died 13 days after treatment initiation. Congenital tuberculosis should be considered in infants with weight loss, fever, cough, hemoptysis and respiratory distress.

  11. Congenitally Blind Counselor, Adventitiously Blind Client.

    ERIC Educational Resources Information Center

    Roberts, A. H.

    1994-01-01

    A counselor blind from birth describes personal difficulties in fully understanding the experience of clients who are adventitiously blind. Congenitally blind counselors are urged to recognize that adaptive methods cannot compensate for the panoramic view of the environment provided by vision and that recently blinded individuals need to deal with…

  12. Genetics of Nonsyndromic Congenital Hearing Loss

    PubMed Central

    Egilmez, Oguz Kadir; Kalcioglu, M. Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  13. Subclinical Congenital Cytomegalovirus Infection and Hearing Impairment

    ERIC Educational Resources Information Center

    Dahle, Arthur J.; And Others

    1974-01-01

    When the hearing sensitivity of children with subclinical congenital cytomegalovirus infection was evaluated and compared with that of a group of matched control subjects, nine of the 18 infected subjects were found to have some hearing loss, ranging from slight high-frequency impairments to a severe-to-profound unilateral loss. (MYS)

  14. Burnei-Gavriliu classification of congenital scoliosis.

    PubMed

    Ghiță, R A; Georgescu, I; Muntean, M L; Hamei, Ș; Japie, E M; Dughilă, C; Țiripa, I

    2015-01-01

    The existent classifications of congenital scoliosis cannot contain all the cases encountered in the medical practice taking into account the complexity of the spine deformity in this pathology. The paper represents a retrospective study that analyses a new classification of congenital scoliosis in comparison with the existing classification. This study analyses 56 cases over a period of 14 years (2000-2013), based on the spine dominant deviation: longitudinal or rotational imbalance. This new classification contains not only the formation, segmentation and mixed defects, but also the formation failure with or without fusion failure of the ossification centers (wedged vertebra, hemivertebral body, segmented, hemisegmented, unsegmented hemivertebra, which may be successive, intermittent, alternant compensated or alternant decompensated). It also contains the congenital scoliosis with a rotational imbalance by spinal traction, spinal pushing or by a mixed effect. In comparison with the other classifications in literature: Winter, Imagama or Kawakami, this classification systematizes data according not only to the spatial disposition of the hemivertebrae, but also to the balance of the deformity. In conclusion, this classification of congenital scoliosis has a practical, diagnostic, therapeutical and prognostic use.

  15. 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.

  16. [Congenital left sinus of Valsalva aneurysm].

    PubMed

    Simões, M V; Figueira, R R; Barbato, D; Miziara, H L

    1991-01-01

    Two cases of left sinus of Valsalva congenital aneurysm (SVCA), incidentally found are described. The authors call attention on rarity of them, and present new concepts about their morphogenesis and incidence. They also suggested a higher incidence of asymptomatic and undiagnosed cases of SVCA should be considered.

  17. Mental Imagery in Congenitally Blind Children.

    ERIC Educational Resources Information Center

    Anderson, David W.

    1986-01-01

    A study explored the nature of representational thought in 10 congenitally blind three- to nine-year-olds through interviews during which the subjects defined and described objects and later identified similar objects. Results suggested that blind children should be taught appropriate or systematic methods for tactually obtaining information. (CB)

  18. Amblyopia Associated with Congenital Facial Nerve Paralysis.

    PubMed

    Iwamura, Hitoshi; Kondo, Kenji; Sawamura, Hiromasa; Baba, Shintaro; Yasuhara, Kazuo; Yamasoba, Tatsuya

    2016-01-01

    The association between congenital facial paralysis and visual development has not been thoroughly studied. Of 27 pediatric cases of congenital facial paralysis, we identified 3 patients who developed amblyopia, a visual acuity decrease caused by abnormal visual development, as comorbidity. These 3 patients had facial paralysis in the periocular region and developed amblyopia on the paralyzed side. They started treatment by wearing an eye patch immediately after diagnosis and before the critical visual developmental period; all patients responded to the treatment. Our findings suggest that the incidence of amblyopia in the cases of congenital facial paralysis, particularly the paralysis in the periocular region, is higher than that in the general pediatric population. Interestingly, 2 of the 3 patients developed anisometropic amblyopia due to the hyperopia of the affected eye, implying that the periocular facial paralysis may have affected the refraction of the eye through yet unspecified mechanisms. Therefore, the physicians who manage facial paralysis should keep this pathology in mind, and when they see pediatric patients with congenital facial paralysis involving the periocular region, they should consult an ophthalmologist as soon as possible. © 2016 S. Karger AG, Basel.

  19. Genetics Home Reference: congenital mirror movement disorder

    MedlinePlus

    ... or Free article on PubMed Central Peng J, Charron F. Lateralization of motor control in the human ... Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, Rouleau GA. Mutations in DCC cause congenital ...

  20. [Neonatal curettage of giant congenital nevi].

    PubMed

    Michel, J L; Laborde-Milaa Roux, V; Chavrier, Y; Roux, V; Metafiot, H; Chalencon, F; Cambazard, F

    2000-01-01

    All agree upon the need for early treatment of giant congenital nevi, basically because of the risk of melanoma degeneration, estimated at about 5 p. 100. Another reason is the cosmetic, psychological and social impact of such nevi. The aim of this study was to assess neonatal curettage of giant congenital nevi as an alternative to classical surgery. Between 1996 and 1999, the curettage technique was used in 14 newborns with giant congenital nevi. Three nevi were located on the scalp, 4 on lower limbs and 7 on the trunk with a jacket configuration in 1 case and a cape configuration in 4. Curettage achieved 70-95 p. 100 clearing of the giant nevi in 10 of the 14 children. Four of the children developed hypertrophic scar tissue which resolved with time. Secondary hair growth was observed in 5 cases. Outcome was better when the curettage was performed very early (before 2 weeks of life). Curettage is a surface technique proposed when surgical excision cannot be performed because the surface is too large or the localization is incompatible with surgery. Curettage is a simple low-cost technique which provides particularly satisfactory cosmetic results for very extensive giant congenital nevi. The risk of malignant transformation is greatly reduced although not totally. Regular clinical surveillance under conditions greatly improved by the clearing should help reduce the risk.

  1. Why prevent, diagnose and treat congenital toxoplasmosis?

    PubMed Central

    McLeod, Rima; Kieffer, Francois; Sautter, Mari; Hosten, Tiffany; Pelloux, Herve

    2009-01-01

    Evidence that prevention, diagnosis and treatment of toxoplasmosis is beneficial developed as follows: antiparasitic agents abrogate Toxoplasma gondii tachyzoite growth, preventing destruction of infected, cultured, mammalian cells and cure active infections in experimental animals, including primates. They treat active infections in persons who are immune-compromised, limit destruction of retina by replicating parasites and thereby treat ocular toxoplasmosis and treat active infection in the fetus and infant. Outcomes of untreated congenital toxoplasmosis include adverse ocular and neurologic sequelae described in different countries and decades. Better outcomes are associated with treatment of infected infants throughout their first year of life. Shorter intervals between diagnosis and treatment in utero improve outcomes. A French approach for diagnosis and treatment of congenital toxoplasmosis in the fetus and infant can prevent toxoplasmosis and limit adverse sequelae. In addition, new data demonstrate that this French approach results in favorable outcomes with some early gestation infections. A standardized approach to diagnosis and treatment during gestation has not yet been applied generally in the USA. Nonetheless, a small, similar experience confirms that this French approach is feasible, safe, and results in favorable outcomes in the National Collaborative Chicago-based Congenital Toxoplasmosis Study cohort. Prompt diagnosis, prevention and treatment reduce adverse sequelae of congenital toxoplasmosis. PMID:19430661

  2. Congenital Cystic Malformation of the Bile Ducts

    PubMed Central

    Hogarth, Jean; Laird, R. C.

    1966-01-01

    A 20-year-old woman had a cyst of the proximal part of the common bile duct and a cyst of the left hepatic duct; these lesions were diagnosed preoperatively by intravenous cholangiography and successfully operated upon. At the time of writing, she has been followed up for one year. Congenital defects in the biliary system are rare and, in a review of the literature, only two cases were found similar to this one. It is generally accepted that these lesions are congenital, but the exact pathogenesis is unknown. Alonso-Lej, Rever and Pessagno2 reviewed the literature in 1959 and found 403 authentic congenital cysts of the hepatic ducts. The most common congenital defect is a single choledochal cyst of the lower end of the common bile duct. Pain, jaundice and tumour are the main symptoms. Until the advent of intravenous cholangiography, these lesions were seldom recognized preoperatively. Means of operative repair as well as complications and prognosis are reviewed. ImagesFig. 1Fig. 2Fig. 3 PMID:5937201

  3. Wayfinding Information for Congenitally Blind Individuals.

    ERIC Educational Resources Information Center

    Passini, R.; And Others

    1988-01-01

    Fifteen congenitally blind subjects were involved in a route-finding experiment in a complex architectural setting. Compared to sighted controls, subjects planned the journey in more detail, formulated more decisions, and used more units of information. On a cognitive mapping exercise, the blind subjects performed virtually as well as sighted…

  4. Congenital pancreatic anomalies, variants, and conditions.

    PubMed

    Alexander, Lauren F

    2012-05-01

    Understanding pancreatic development and the congenital anomalies and variants that result from alterations in normal development allows for better recognition of these anomalies at diagnostic imaging. This article reviews normal pancreatic embryology and anatomy, and the appearance of the more common developmental anomalies and ductal variants, with emphasis on computed tomography and magnetic resonance imaging. Common mimics of masses are also covered.

  5. [Unilateral congenital aplasia of the submandibular gland].

    PubMed

    Damar, Murat; Kalaycı, Cem Burak; Bekar, Ulkü; Turhan, Bünyamin

    2013-01-01

    Aplasia of the major salivary glands is very uncommon, whereas isolated aplasia of unilateral submandibular gland is even rarer. In this article, we report a 55-year-old female case in whom unilateral aplasia of the left submandibular gland was detected incidentally by ultrasonography with no other congenital comorbidities in the light of literature data.

  6. Congenital glioblastoma coexisting with vascular developmental anomaly.

    PubMed

    Laure-Kamionowska, Milena; Szymanska, Krystyna; Biekiesinska-Figatowska, Monika; Gierowska-Bogusz, Barbara; Michalak, Elżbieta; Klepacka, Teresa

    2013-01-01

    Congenital central nervous tumours form a unique group of neoplasms. They are different from other tumour groups not only due to the onset time but also to their histopathology, anatomic location, and biologic behaviour. Congenital glioblastoma is one of the rarest types of congenital brain tumours and is uncommon in the prenatal period. We report a rare case of congenital glioblastoma detected prenatally by ultrasound examination and magnetic resonance imaging at 26 gestational weeks. Based on MRI findings and consultation of a team of specialists, pregnancy was terminated at 28 weeks. The newborn presented hydrops foetal. The child died shortly after birth due to cardiorespiratory insufficiency. At autopsy a large tumour with a spongy-like appearance was found. The tumour involved nearly the whole right cerebral hemisphere and led to marked hydrocephalus. In the histological and immunohistochemical examination, the tumour presented features of glioblastoma. Neoplastic cells were immunopositive for GFAP, S-100 protein and negative for neuronal markers. Frequent mitoses and high MIB-1 labelling index were seen in the tumour areas. The coexistence of tumour and vascular developmental anomaly was stated. The conglomerates of numerous, distended, thin-walled foetal-like blood vessels were located beside the tumour tissue, which presented disturbance in differentiation and maturation of the vascular net. Such coexistence of malignant glioma with vascular developmental anomaly is unique.

  7. The adult patient with congenital heart disease.

    PubMed

    Baum, V C

    1996-02-01

    In adults with congenital heart disease who are confronted with noncardiac surgery, perioperative risks can be reduced, often appreciably, when problems inherent to this patient population are anticipated. The first necessity is to clarify the diagnosis and to be certain that appropriate information is obtained from a cardiologist with adequate knowledge of congenital heart disease in adults. Physiology and anatomy can vary significantly among patients who superficially carry identical diagnoses. Elective noncardiac surgery should be preceded by clinical assessment including review of clinical and laboratory data and securing the results of necessary diagnostic studies. Preoperative assessment should be performed far enough in advance of the anticipated date of surgery to allow critical assessment of the data and potential discussions with colleagues. Appropriate cardiovascular laboratory studies to be obtained or reviewed include electrocardiograms, chest radiographs, echocardiograms, and cardiac catheterization data, which may include specialized intracardiac electrophysiologic testing. Congenital heart disease in adults is a new and evolving area of special interest and expertise in cardiovascular medicine. Multidisciplinary centers for the care of these patients are being developed. The 22nd Bethesda Conference recommended that these centers include among their consultants anesthesiologists with special expertise in managing patients with congenital heart disease. These anesthesiologists can have the option of serving either as the attending anesthesiologists when patients require noncardiac surgery or as consultants and resource individuals to other anesthesiologists.

  8. Esophageal duplication and congenital esophageal stenosis.

    PubMed

    Trappey, A Francois; Hirose, Shinjiro

    2017-04-01

    Esophageal duplication and congenital esophageal stenosis (CES) may represent diseases with common embryologic etiologies, namely, faulty tracheoesophageal separation and differentiation. Here, we will re-enforce definitions for these diseases as well as review their embryology, diagnosis, and treatment. Copyright © 2017. Published by Elsevier Inc.

  9. Congenital Disorders of Glycosylation and Intellectual Disability

    ERIC Educational Resources Information Center

    Wolfe, Lynne A.; Krasnewich, Donna

    2013-01-01

    The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

  10. Congenital fibrosis of the extraocular muscles.

    PubMed

    Cooymans, Pascale; Al-Zuhaibi, Sana; Al-Senawi, Rana; Ganesh, Anuradha

    2010-05-01

    Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. To describe the clinical and neuro-radiological findings in three patients with CFEOM and review literature with respect to clinical features, genetics and management of this condition. A retrospective chart review was performed of three Omani patients who had been diagnosed with CFEOM in our institution. All patients had undergone standardized orthoptic and ocular evaluations and magnetic resonance imaging (MRI) of the orbits and brain. The three patients (age range nine months - 10 years) presented a history of congenital strabismus. All patients had severe bilateral ptosis and mild to moderate visual impairment secondary to the ptosis and astigmatism. Two of three patients demonstrated a positive jaw-winking phenomenon. A moderate to large angle exotropia with varying amount of hypotropia and limitations of almost all the extra ocular muscles was noted. Patient 3 was also developmentally delayed. MRI brain and orbit showed abnormalities of the extraocular muscles in two patients and brain malformation in one patient. CFEOM is a rare, congenital, and non-progressive disorder with multiple extra ocular muscle restrictions. CFEOM can be associated with neuro-radiological abnormalities; its diagnosis and classification is defined by clinical characteristics and genetics. Options for treatment are limited and difficult.

  11. Congenital anomalies: hospitalization in a pediatric unit.

    PubMed

    Polita, Naiara Barros; Ferrari, Rosângela Aparecida P; de Moraes, Priscila Santa; Sant'Anna, Flávia Lopes; Tacla, Mauren Teresa G M

    2013-06-01

    To analyze the profile of children with congenital anomalies admitted to a pediatric unit. This is a quantitative and retrospective research. The sample consisted of records of children aged from 0 to 12 years old who were hospitalized in the pediatric unit of the University Hospital of Londrina, Paraná, Southern Brazil, from 2007 to 2009. Data were collected by chart review processed in the Epi-Info® program, and they were submitted to descriptive statistical analysis. There were 282 first admissions of children with congenital anomalies. Of these, 130 (46.0%) required readmission totaling therefore 412 hospitalizations. The mean stay was three days. There was a male predominance, and the age range was from three to seven years old. The most frequent congenital anomalies were in the genital and urinary systems (19.6%), followed by cleft lip and palate (17.3%), and those of the circulatory system (16.2%). There were 269 surgical procedures to correct there anomalies. This study underscores the epidemiological importance of congenital malformations, highlighting the need to prevent and control the triggering factors.

  12. Virus-induced congenital malformations in cattle.

    PubMed

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-09-24

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered.

  13. Congenital Disorders of Glycosylation and Intellectual Disability

    ERIC Educational Resources Information Center

    Wolfe, Lynne A.; Krasnewich, Donna

    2013-01-01

    The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

  14. Pregnancy in Women with Congenital Heart Disease.

    PubMed

    Yucel, Evin; DeFaria Yeh, Doreen

    2017-08-22

    Advances in cardiac surgical interventions in infancy and childhood have led to an increased number of women with congenital heart disease of childbearing age. For these women, individualized preconception counseling and pregnancy planning should be a vital component of their medical management, and presentation for obstetric care may even be an opportunity to re-establish cardiovascular care for patients who have been lost to follow-up. These patients have unique cardiovascular anatomy and physiology, which is dependent upon the surgical intervention they may have undergone during childhood or adolescence. These factors are associated with a variety of long-term complications, and the normal hemodynamic changes of pregnancy may unmask cardiac dysfunction and pose significant risk. Among three published risk assessment algorithms, the World Health Organization classification is the most sensitive in predicting maternal cardiovascular events in this population. Women with simple congenital heart defects generally tolerate pregnancy well and can be cared for in the community with careful monitoring. Conversely, women with complex congenital defects, with or without surgical repair and/or residual defects, should be managed in tertiary care centers under a multidisciplinary team of physicians experienced in adult congenital heart disease and high-risk obstetrics, who collaboratively participate in pregnancy planning, management, and care through childbirth and postpartum. Women who are cyanotic with oxygen saturation less than 85%, have significant pulmonary arterial hypertension of any cause, or have systemic ventricular dysfunction should be counseled to avoid pregnancy due to a very high risk of maternal and fetal mortality.

  15. Neutropenia in Congenital and Adult Babesiosis.

    PubMed

    Wormser, Gary P; Villafuerte, Patrick; Nolan, Sheila M; Wang, Guiqing; Lerner, Robert G; Saetre, Kirsten L; Maria, Mazen H; Branda, John A

    2015-07-01

    Anemia and thrombocytopenia are expected hematologic abnormalities in patients with acute babesiosis, whereas neutropenia (defined as an absolute neutrophil count of ≤1,800 neutrophils/μL for adults and <1,200 neutrophils/μL for infants) is not usually considered a feature of this infection. We studied the frequency with which neutropenia occurs in congenital and adult cases of babesiosis. The frequency of neutropenia in cases of congenital babesiosis was determined based on a literature review and on the findings in an unreported case. The frequency of neutropenia in adult patients was assessed based on a review of the medical records of 51 patients who were diagnosed with babesiosis between 2010 and 2013 at two medical centers in the Northeastern United States. Four (80%; 95% confidence interval [CI], 36%-98%) of five infants with congenital babesiosis whose neutrophil count was reported were neutropenic. Among 51 adult cases with babesiosis, 11 (22%; 95% CI, 12%-35%) were neutropenic on clinical presentation, and seven others developed neutropenia over the next 1 to 21 days. Thus, a total of 18 (35%; 95% CI, 24%-49%) of the adult patients with babesiosis had neutropenia. Neutropenia appears to be a common finding in infants with congenital babesiosis and is also observed not infrequently in adults with this infection. Copyright© by the American Society for Clinical Pathology.

  16. Bilateral macular colobomas in Leber's congenital amaurosis.

    PubMed

    Murayama, K; Adachi-Usami, E

    1989-06-01

    Two siblings with Leber's congenital amaurosis had bilateral macular colobomas, nystagmus, extinguished ERGs, and degenerative salt and pepper like changes in the fundus. They had non-recordable or non-meaningful visually evoked cortical potentials in response to both flash and pattern stimuli. The ophthalmic conditions were thought to be inherited as an autosomal recessive trait.

  17. Fetal interventions for congenital heart disease.

    PubMed

    Freud, Lindsay R; Tworetzky, Wayne

    2016-04-01

    This article discusses the rationale, patient selection, technical aspects, and outcomes of percutaneous, ultrasound-guided fetal cardiac intervention (FCI) for structural congenital heart disease. FCI is most commonly performed for three forms of congenital heart disease: severe aortic stenosis with evolving hypoplastic left heart syndrome (HLHS), pulmonary atresia with intact ventricular septum and evolving hypoplastic right heart syndrome, and HLHS with intact or highly restrictive atrial septum. For severe aortic stenosis and pulmonary atresia with intact ventricular septum, the goal of intervention is to alter the natural history such that a biventricular circulation may be achieved postnatally. A growing number of patients have achieved a biventricular circulation; however, patient selection and postnatal management strategy are essential for success. HLHS with intact or highly restrictive atrial septum is one of the most lethal forms of congenital heart disease, and the goal of FCI is to improve survival. Although the creation of an atrial communication in utero is technically feasible and may permit greater stability in the immediate postnatal period, significant improvements in survival have not yet been reported. FCI is an evolving form of treatment for congenital heart disease that holds promise for select patients. Critical evaluation of both short and long-term outcomes is warranted.

  18. Unilateral congenital elbow luxation in a dachshund

    PubMed Central

    Fafard, Alain R.

    2006-01-01

    Congenital elbow luxation was diagnosed in a 12-week-old, intact male, dachshund with a lateral elbow prominence and mild lameness of the right forelimb. Closed reduction of the radial head, ulnar ostectomy, and external stabilization of the joint were performed. Function was returned to the limb, but radial head and ulnar subluxation persisted. PMID:17017659

  19. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  20. Congenital epulis: A rare benign tumour.

    PubMed

    Wong, D K C; Ramli, R; Muhaizan, W M; Primuharsa Putra, S H A

    2016-10-01

    Congenital epulis is a rare benign pedunculated tumour of the oral cavity arising from the alveolar ridges. It is usually detected in newborns and can be successfully resected surgically. We report a case of a newborn baby who had a 5x3x3cm pedunculated lobar mass arising from the upper alveolar ridge.