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Sample records for congenital radioulnar synostosis

  1. [Radioulnar synostosis as characteristic feature of chromosome aberrations (author's transl)].

    PubMed

    Küsswetter, W; Heisel, A

    1981-02-01

    Among 13 patients with congenital proximal radioulnar synostosis the chromosomal analysis revealed a 47, XXY-constellation in an 8 years old boy and a 47, XXX-syndrome in a 12-year-old girl. The investigations show, that the congenital radio-ulnar synostosis may be combined with the chromosome aberration more often than it was commonly thought. PMID:7281903

  2. 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

  3. Proximal tibio-fibular synostosis. A rare congenital anomaly.

    PubMed

    O'Dwyer, K J

    1991-01-01

    A case of proximal tibiofibular synostosis is presented along with a review of the literature. The variety of presenting complaints is discussed and the syndrome is compared with that of radio-ulnar synostosis. Possible modes of treatment are explained. PMID:1872166

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

    PubMed

    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

    2015-12-01

    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 8(th) 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

  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. Proximal Radio-Ulnar Synostosis at the Pin-Track Site after External Fixation of the Forearm.

    PubMed

    Kanakaris, Nikolaos; Tsoutseos, Nikolaos

    2007-06-01

    Posttraumatic synostosis of the forearm bones is a rare but serious complication following fixation or even conservative treatment of adult forearm fractures. This is the second report in the English literature of such a complication at the pin-track site following external fixation of proximal forearm fractures. A 36-year-old male patient sustained an open fracture of his proximal right forearm after a road traffic accident. It was managed by external fixation of the ulna and plate fixation of the radius. At follow-up, a type 3 radio-ulnar synostosis at the pin-track site became evident, which was treated after 20 months with surgical resection of the bony bridge to regain the rotatory motion of his forearm. PMID:26814492

  7. Proximal Radio-Ulnar Synostosis at the Pin-Track Site after External Fixation of the Forearm.

    PubMed

    Kanakaris, Nikolaos; Tsoutseos, Nikolaos

    2007-06-01

    Posttraumatic synostosis of the forearm bones is a rare but serious complication following fixation or even conservative treatment of adult forearm fractures. This is the second report in the English literature of such a complication at the pin-track site following external fixation of proximal forearm fractures. A 36- year-old male patient sustained an open fracture of his proximal right forearm after a road traffic accident. It was managed by external fixation of the ulna and plate fixation of the radius. At follow-up, a type 3 radio-ulnar synostosis at the pin-track site became evident, which was treated after 20 months with surgical resection of the bony bridge to regain the rotatory motion of his forearm. PMID:26814493

  8. 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.

  9. Congenital muscular torticollis concurrent with sagittal synostosis: a case report.

    PubMed

    Kim, Seung-Hyun; Ahn, Ah-Reum; Yim, Shin-Young

    2014-10-01

    Congenital muscular torticollis (CMT) and craniosynostosis are diseases that cause plagiocephaly and craniofacial asymmetry in children. In our literature review, we did not find any report of concurrent manifestation of CMT and craniosynostosis. A 41-month-old boy visited our hospital with left torticollis, right laterocollis, and craniofacial asymmetry as the main findings. During clinical examination, prominent right sternocleidomastoid muscle and limited range of motion of the neck were noted, and right CMT was confirmed by magnetic resonance imaging of the neck. Three-dimensional computed tomography of the skull, which was conducted due to the unusual appearance of the skull with a large head circumference, mild brachycephaly, as well as left plagiocephaly, revealed premature closure of the sagittal suture. Thus, we report the first case that showed concurrence of CMT and sagittal synostosis. We recommend that concurrently manifested craniosynostosis needs to be examined if the subject with CMT displays unusual craniofacial asymmetry to a greater extent than deformational plagiocephaly. PMID:25379504

  10. Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture.

    PubMed

    Kitoh, H; Nogami, H; Oki, T; Arao, K; Nagasaka, M; Tanaka, Y

    1996-01-01

    The Antley-Bixler syndrome is a rare disorder characterized by craniosynostosis, midface hypoplasia, radiohumeral synostosis, joint contractures, arachnodactyly, and femoral bowing and fractures. We report four cases with this disorder, all of which had craniosynostosis, midface hypoplasia with characteristic facial appearance, and contractures of bilateral elbow joints. However, femoral bowing, fractures, and arachnodactyly were not seen in our patients. In addition, proximal phalanges of the thumb and the great toe showed deformity of the delta phalanx in two cases. Characteristic features in these cases were the synostotic deformity of the elbow joint; three had radioulnahumeral synostosis, and one had radioulnar synostosis. Therefore, our cases indicated that various synostotic patterns of the elbow joints may exist in this syndrome. It is reasonable to propose that characteristic craniofacial appearance associated with the synostosis of the elbow joints of various forms should be considered minimal diagnostic criteria of the Antley-Bixler syndrome. PMID:8742293

  11. Proximal tibiofibular synostosis.

    PubMed

    Wong, K; Weiner, D S

    1978-09-01

    The occurrence of a proximal tibiofibular synostosis is indeed a rare condition with only 2 cases unassociated with other diseases reported to our knowledge to date. Two skeletally immature patients presented with a synostosis of the proximal tibiofibular region associated with shortening of the limb in the affected segments. Although the shortening and the synostosis seem interrelated no explanation of their relationship is evident from these 2 cases. PMID:709951

  12. Distal radioulnar joint injuries.

    PubMed

    Thomas, Binu P; Sreekanth, Raveendran

    2012-09-01

    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

  13. Unusual proximal tibiofibular synostosis.

    PubMed

    Takai, S; Yoshino, N; Hirasawa, Y

    1999-01-01

    Proximal tibiofibular synostosis without multiple hereditary exostosis is extremely rare and only 7 cases have been reported in the literature. All of the previously reported cases accompanied deformities such as distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. The present case of a 24-year-old man had neither a history of trauma nor deformity around the knee. Therefore, it was suggested that this type of synostosis occurred after epiphyseal plate closure. PMID:10741527

  14. Proximal tibiofibular synostosis.

    PubMed

    Gamble, J G

    1984-03-01

    A case of proximal tibiofibular synostosis with a 10-year follow-up is presented. The lesion was documented roentgenographically when the patient was 3 years of age and when she became symptomatic at 13 years of age after vigorous running. The symptoms were successfully treated with custom-molded shoe orthotics. PMID:6699166

  15. Semiconstrained distal radioulnar joint prosthesis.

    PubMed

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

    2013-02-01

    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

  16. Management of complications of distal radioulnar joint.

    PubMed

    Ozer, Kagan

    2015-05-01

    The distal radioulnar joint (DRUJ) is a complex structure that participates in forearm rotation and weight-bearing. Myriad disorders affect the DRUJ and present diagnostic and management challenges. Degenerative and posttraumatic arthritis and pain at the DRUJ have been traditionally treated with resection of 1 of the 2 arthritic surfaces. Although the procedure often relieves pain associated with incongruence, it creates a different problem by changing the overall dynamics of the forearm rotation and weight-bearing, resulting in radioulnar convergence and ulnar translation of the carpus. This article focuses on the management of painful radioulnar convergence after distal ulnar resections. PMID:25934199

  17. Disorders of the distal radioulnar joint.

    PubMed

    Houdek, Matthew T; Wagner, Eric R; Moran, Steven L; Berger, Richard A

    2015-01-01

    The distal radioulnar joint is responsible for stable forearm rotation. Injury to this joint can occur following a variety of mechanisms, including wrist fractures, ligamentous damage, or degenerative wear. Accurate diagnosis requires a clear understanding of the anatomy and mechanics of the ulnar aspect of the wrist. Injuries can be divided into three major categories for diagnostic purposes, and these include pain without joint instability, pain with joint instability, and joint arthritis. New advancements in imaging and surgical technique can allow for earlier detection of injuries, potentially preserving joint function. In this article, the authors review the pertinent anatomy, biomechanics, and major abnormality involving the distal radioulnar joint. PMID:25285686

  18. 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

  19. Synostosis of the proximal tibiofibular joint.

    PubMed

    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

  20. 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

  1. [The "candlestick" technique for the correction of certain types of congenital metacarpal synotosis].

    PubMed

    Foucher, G; Medina, J; Bollecker, V; Lorea, P

    2002-10-01

    Metacarpal synostosis is a rare congenital hand malformation requiring only occasionally a surgical correction. However in case of divergent epiphyses there is a progressive accentuation of the deformity. In the "Y" type of symmetrical synostosis, the authors propose a trapezoidal osteotomy with upside down relocation allowing realignement of the epiphyses without distant bone donor site. PMID:12491705

  2. Diaphyseal tibiofibular synostosis in professional athletes: Report of 2 cases.

    PubMed

    Sonnery-Cottet, B; Alessio-Mazzola, M; Luz, B F; Barbosa, N C; Tuteja, S; Kajetanek, C; Dellal, A; Thaunat, M

    2016-02-01

    Anterior leg pain is common in professional athletes and tibiofibular synostosis is reported to be a rare cause of anterior compartment pain or ankle pain related to sports activities. The management and appropriate treatment of this condition in professional athletes is controversial and the literature on the topic is sparse. Distal synostosis is usually related to ankle sprain and syndesmotic ligament injury, and proximal synostosis has been linked to leg length discrepancy and exostosis. Mid-shaft synostosis is even less common than proximal and distal forms. We present the treatment of mid-shaft tibiofibular synostosis in 2 cases of professional athletes (soccer and basketball player), along with a review of the literature. When diaphyseal synostosis is diagnosed, first-line conservative treatment, including ultrasound-guided steroid injection is recommended. However, if it does not respond to conservative management, surgical resection may be indicated to relieve symptoms. PMID:26615768

  3. Locked volar distal radioulnar joint dislocation

    PubMed Central

    Bouri, Fadi; Fuad, Mazhar; Elsayed Abdolenour, Ayman

    2016-01-01

    Introduction Volar dislocation of the distal radioulnar joint is a rare injury which is commonly missed in the emergency departments. A thorough review of literature showed very few reported cases and the cause for irreducibility varied in different cases, Lack of suspicion and improper X-ray can delay the diagnosis. Case presentation Our article discusses a case 40 year old construction worker, who presented to the Emergency with work-related injury, complaining of left wrist pain, deformity and inability to rotate his forearm. X-rays revealed a volar dislocation of distal ulna which was reducible after manipulation under General Anesthesia (GA). The joint was stable after the reduction. Discussion Isolated dislocation of the distal radioulnar joint can be either volar or dorsal, although dorsal dislocation is more common. The distal radioulnar articulation plays an important role in the rotational movement of the forearm. It allows pronation and supination which are essential for the function of the upper limb. Pronator Quadratus muscle spasm is an important blockade to reduction and was preventing reduction in this case. Methods The work has been reported in line with the CARE criteria [9]. Conclusion Volar locked dislocation of Distal Radio ulnar joint is a rare injury. High degree of clinical suspicion and proper X-ray is required for prompt detection. The importance of this case is to raise the awareness among physicians in treating these kind of injuries by careful assessment of the patient and radiographs, and to consider pronator quadratus as an important cause for the blockade to reduction. PMID:27016647

  4. Fractured diaphyseal tibiofibular synostosis in an adolescent soccer player.

    PubMed

    Santa Maria, Daniel L; Shaw, Thomas; Allen, Marque; Marin, James

    2015-01-01

    Diaphyseal tibiofibular synostosis is a rare cause of symptomatic shin pain with exertion. In this case, a 14-year-old male soccer player presented with atraumatic right shin pain made worse with running. Computed tomography revealed heterotopic ossification, or synostosis, of the tibial-fibular syndesmosis. The patient's symptoms improved with rest, without the need for operative intervention. PMID:25171880

  5. Subtle radiographic findings of acute, isolated distal radioulnar joint dislocation.

    PubMed

    Duryea, Dennis M; Payatakes, Alexander H; Mosher, Timothy J

    2016-09-01

    Distal radioulnar dislocations typically occur in association with fractures of the distal radius and/or ulna. Rare isolated dislocations or subluxations are more difficult to diagnose and are initially missed in up to 50 % of cases. We present two cases of missed isolated volar rotatory dislocation of the distal radioulnar joint. Subtle, overlooked radiographic findings of abnormal radioulnar alignment and ulnar styloid projection are highlighted. The supplemental role of cross-sectional imaging is reviewed. Adequate clinical information, appropriate radiographic technique, and high index of suspicion are necessary for the accurate and timely diagnosis of this rare injury pattern. PMID:27229875

  6. The biomechanical and functional relationships of the proximal radioulnar joint, distal radioulnar joint, and interosseous ligament.

    PubMed

    Malone, P S C; Cooley, J; Morris, J; Terenghi, G; Lees, V C

    2015-06-01

    This biomechanical study assessed integrated function of the proximal radioulnar joint (PRUJ), interosseous ligament (IOL), and distal radioulnar joint (DRUJ). Tekscan™ pressure sensors were inserted into the DRUJ and PRUJ of 15 cadaveric specimens. MicroStrain(®) sensors were mounted onto the IOL on nine of these specimens. A customized biomechanical jig was used to apply axial loads and take measurements through pronosupination. The PRUJ, IOL, and DRUJ were shown to function as an integrated osseoligamentous system distributing applied load. The PRUJ has transmitted pressure profiles similar to those of the DRUJ. Different IOL components support loading at different stages of pronosupination. The IOL is lax during pronation. Mid-IOL tension peaks in the midrange of forearm rotation; distal-IOL tension peaks in supination. Axial loading consistently increases IOL strain in a non-linear fashion. There are clinical implications of this work: disease or surgical modification of any of these structures may compromise normal biomechanics and function. PMID:24835480

  7. Arthroscopic visualisation of the distal radioulnar joint.

    PubMed

    Yamamoto, Michiro; Koh, Shukuki; Tatebe, Masahiro; Shinohara, Takaaki; Shionoya, Kaori; Nakamura, Ryogo; Hirata, Hitoshi

    2008-01-01

    The diagnosis of chronic wrist pain is challenging and wrist arthroscopy has been recognised as the "gold standard". The present study investigated the efficacy of adding distal radioulnar joint (DRUJ) arthroscopy to routine wrist arthroscopy. The records of 67 patients who underwent DRUJ arthroscopy were reviewed, and the success rates for visualisation of intra-articular structures were determined. Pathological findings were correlated with ulnar-side wrist pain. In seven patients, pre-operative diagnoses were altered after DRUJ arthroscopy. The ulnar head and proximal surface of the triangular fibrocartilage complex (TFCC) were visualised in 100% and 99% of patients, respectively, while the foveal insertion of TFCC and sigmoid notch were visualised in 57% and 69%, respectively. Pathological findings of the proximal surface of TFCC tended to relate to ulnar wrist pain (p = 0.06). DRUJ arthroscopy should be included in routine wrist arthroscopy to enhance the accuracy of diagnosis. PMID:19378356

  8. Frontosphenoid synostosis: an unusual cause of anterior plagiocephaly.

    PubMed

    Bot, Gyang; Leshem, David; Shiran, Shelly I; Ben-Shachar, Shay; Constantini, Shlomi; Roth, Jonathan

    2015-01-01

    Nonpositional anterior plagiocephaly results commonly from unilateral coronal craniosynostosis. We present 2 patients of a rare cause of anterior plagiocephaly known as frontosphenoid synostosis. This condition is characterized by the absence of a harlequin eye (or the harlequin sign on computed tomography), which is usually present in unilateral coronal synostosis. We also observed no reduction in the ear-eye distance, which can distinguish it from coronal craniosynostosis. PMID:25469893

  9. 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. PMID:21187774

  10. Proximal tibiofibular synostosis as a possible cause of a pseudoradicular syndrome: a case report.

    PubMed

    van Ooij, Bas; van Ooij, André; Morrenhof, J Wim; van Dijk, C Niek

    2011-12-01

    This paper presents a case report of persistent low back pain and suspected lumbar radiculopathy. A synostosis at the level of the proximal tibiofibular joint was diagnosed. After successful resection of the synostosis, the low back symptoms resolved completely. This is the first report of a proximal tibiofibular synostosis as a possible cause of referred pain proximally. PMID:21222100

  11. Anatomic dorsal and volar radioulnar ligament reconstruction with Mersilene augmentation for distal radioulnar joint instability.

    PubMed

    Stein, Andrew J; Adabi, Kian; Schofield, Jennifer L; Marsh, Mike; Paulo, Jerry

    2015-03-01

    Instability of the distal ulna is a fairly common problem after acute distal radius fracture (DRF), distal radius malunion, triangular fibrocartilage complex injury, and a host of other types of trauma. We present a new anatomic technique to stabilize the distal ulna with a tendon graft augmented with Mersilene tape, which has been used primarily to treat unidirectional (dorsal or volar) instability, but could be used for global instability as well. Of the 12 patients who underwent this procedure, 9 had stability fully restored and the remaining 3 had only mild instability after surgery. The procedure is an effective treatment for distal radioulnar joint instability and we believe that this surgical technique will be a valuable adjunct to the existing described procedures for hand surgeons. We present a retrospective single-surgeon case series with outcome measures. PMID:25575187

  12. 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

  13. Bilateral non-osteochondroma-related proximal tibiofibular synostosis.

    PubMed

    Wakayama, Takanori; Imanishi, Jungo; Yazawa, Yasuo; Okubo, Taketo; Kaneko, Kazuo

    2014-12-01

    We report the case of a 67-year-old male with bilateral proximal tibiofibular synostosis, presenting with unilateral symptoms. The patient complained of pain around the left fibular head, which was attributed to incomplete bone bridging between the proximal tibia and fibula; he underwent proximal fibular head resection, which alleviated the pain and improved knee mobility. Eleven months later, the patient continued to be pain-free and did not experience any adverse effects. An examination of this case and a review of similar cases revealed that participation in sport activities such as long-distance running may be one of the causes of proximal tibiofibular synostosis. In this report, we have also reconsidered the classification of proximal tibiofibular synostosis and provided information for a better understanding of this unusual condition. PMID:24915740

  14. Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

    PubMed

    Broome, M; Vial, Y; Jacquemont, S; Sergi, C; Kamnasaran, D; Giannoni, E

    2016-02-01

    Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia. PMID:23778189

  15. Bilambdoid and posterior sagittal synostosis: the Mercedes Benz syndrome.

    PubMed

    Moore, M H; Abbott, A H; Netherway, D J; Menard, R; Hanieh, A

    1998-09-01

    A consistent pattern of craniosynostosis in the sagittal and bilateral lambdoid sutures is described in three patients. The external cranial ridging associated with fusion of these sutures produces a characteristic triradiate, or "Mercedes Benz," appearance to the posterior skull. Locally marked growth restriction is evident in the posterior fossa with compensatory secondary expansion of the anterior fossa manifesting a degree of frontal bossing which mimics bicoronal synostosis. Although this appearance could lead to inadvertent surgery in the frontal region, attention to the occipital region with wide early suture excision and vault shaping is indicated. PMID:9780908

  16. Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

    PubMed

    di Rocco, Federico; Baujat, Geneviève; Arnaud, Eric; Rénier, Dominique; Laplanche, Jean-Louis; Daire, Valérie Cormier; Collet, Corinne

    2014-12-01

    TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3. PMID:24736737

  17. Simultaneous dislocation of radiocapitellar and distal radioulnar joint.

    PubMed

    Nishi, Tomio; Suzuki, Noriyuki; Tani, Takayuki; Aonuma, Hiroshi

    2013-01-01

    A 45-year-old male presented to the emergency room of our institution complaining of severe pain around the left elbow. While playing volleyball, he slipped down with his left arm hit between the floor and his body. He complaind of strong pain from left elbow to hand, and active motion of elbow and wrist joint was impossible. His forearm was held in supinated position. On X-ray examination, radius head was deviated to anterior lateral side, and distal end of radius was dislocated to dorsal side. Tenderness was prominent at the site of radial head and distal radioulnar joint. Surgical treatment was performed using triceps tendon strip. Good functional recovery was gained. PMID:24194995

  18. Sagittal synostosis: I. Preoperative morphology of the skull.

    PubMed

    Guimarães-Ferreira, José; Gewalli, Fredrik; David, Lisa; Darvann, Tron A; Hermann, Nuno V; Kreiborg, Sven; Friede, Hans; Lauritzen, Claes G K

    2006-01-01

    The aim of this study was to characterise the preoperative morphology of the skull in sagittal synostosis in an objective and quantified way. The shapes of the skulls of 105 patients with isolated premature synostosis of the sagittal suture (SS group) were studied and compared with those of a control group of 72 children with unilateral incomplete cleft lip (UICL). A standardised radiocephalometric technique was used to obtain the images. A modification of a method developed by Kreiborg was used to analyse the radiocephalograms, which included the digitisation of 88 landmarks in the calvaria, skull base, and orbit (42 in the lateral and 46 in the frontal projections), the production of plots of mean shape for each group, and the intergroup comparison of a series of 81 variables (linear distance between selected landmarks, and angles defined by groups of three landmarks). Data from a subgroup of 66 patients aged 5 to 8 months were further compared to age-matched normative data in terms of seven angular and linear calvarial, cranial base and orbital variables. In a comparative analysis of the mean lateral plots, the foreheads of the study group (SS) had a more pronounced anterior slope and were also more convex. The vertex area was located more anteriorly, and was less convex. The occipital curvature was more prominent. Analysis of the mean frontal plots revealed a lack in convexity and lateral projection of the upper parietal regions, as well as a lower location of the line of maximum skull width. Comparison of the mean values of an SS subgroup to age-matched normative data showed a longer (p<0.001) and narrower skull (p<0.001) and a greater interorbital distance (p<0.001). The cranial base angle, the sella to nasion, and sella to basion lengths did not differ significantly. Sagittal synostosis is characterised by an extensive deformity of the cranial vault, with an essentially normal cranial base. The widened interorbital distance is probably related to

  19. Bidirectional Dislocation of the Distal Radioulnar Joint After Distal Radius Fracture: Case Report.

    PubMed

    Arimitsu, Sayuri; Moritomo, Hisao

    2016-02-01

    We report a patient with bidirectional dislocation of the distal radioulnar joint after malunited distal radius fracture, in which the ulnar head dislocated dorsally during forearm pronation and palmarly during supination without manual compression of the ulnar head. The patient had chronic ulnar wrist pain and experienced a painful clunk during forearm rotation. The distal radioulnar joint ballottement test was positive in both the dorsal and palmar directions. Her distal radius was malunited with a 20° dorsal angulation and 18° pronation deformity. A corrective osteotomy of the radius with open repair of the triangular fibrocartilage complex foveal avulsion yielded success. At the 7-year follow-up, there was almost a normal range of wrist and forearm motion, 83% grip strength, no arthritis, and a stable distal radioulnar joint. PMID:26723478

  20. Understanding stability of the distal radioulnar joint through an understanding of its anatomy.

    PubMed

    Hagert, Elisabet; Hagert, Carl-Göran

    2010-11-01

    The authors describe the anatomy of the distal radioulnar joint (DRUJ) and delineate the importance of viewing this joint as part of the whole forearm. The osseous congruity and ligamentous integrity is of essence for the stability of the DRUJ, according to the principles of tensegrity. The neuromuscular control and possible proprioceptive function of the DRUJ are also outlined. PMID:20951895

  1. Effects of distal radius malunion on distal radioulnar joint mechanics--an in vivo study.

    PubMed

    Crisco, Joseph J; Moore, Douglas C; Marai, G Elisabeta; Laidlaw, David H; Akelman, Edward; Weiss, Arnold-Peter C; Wolfe, Scott W

    2007-04-01

    Patients with a malunited distal radius often have painful and limited forearm rotation, and may progress to arthritis of the distal radioulnar joint (DRUJ). The purpose of this study was to determine if DRUJ congruency and mechanics were altered in patients with malunited distal radius fractures. In nine subjects with unilateral malunions, interbone distances and dorsal and palmar radioulnar ligament lengths were computed from tomographic images of both forearms in multiple forearm positions using markerless bone registration (MBR) techniques. The significance of the changes were assessed using a generalized linear model, which controlled for forearm rotation angle (-60 degrees to 60 degrees ). In the malunited forearm, compared to the contralateral uninjured arm, we found that ulnar joint space area significantly decreased by approximately 25%, the centroid of this area moved an average of 1.3 mm proximally, and the dorsal radioulnar ligament elongated. Despite our previous findings of insignificant changes in the pattern of radioulnar kinematics in patients with malunited fractures, we found significant changes in DRUJ joint area and ligament lengthening. These findings suggest that alterations in joint mechanics and soft tissues may play an important role in the dysfunction associated with these injuries. PMID:17262830

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

    PubMed

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

    2016-05-01

    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

  3. [Kapandji corrective operation of post-traumatic disorder of the distal radio-ulnar joint].

    PubMed

    Zilch, H; Kauschke, T

    1996-11-01

    The Sauvé-Kapandji procedure comprises distal radioulnar arthrodesis with screwing of the caput ulnae at the basis of the radius after the correction of the radioulnar length discrepancy. Therefore the best indications are posttraumatic changes of the distal radioulnar joint. At the same time a distal ulnar segment resection about 12 mm in length is necessary to restore forearm rotation, producing an iatrogenic pseudarthrosis. The proximal ulnar segment functionally assimilates to a rotating joint, as could be shown by X-rays. Between 1988 and 1993 this procedure was performed in 12 patients. Follow-up after an average of 38.2 months showed improvements in forearm rotation of 84% for pronation and 60% for supination. All patients had significant pain relief. Grip strength also improved, by 55%. No patient got worse postoperatively as measured by the score of Gartland and Werley. Neither non-union of the distal radioulnar joint fusion nor bony regeneration across the resected ulnar segment was seen. The good results are the consequence of adherence to a rigorous indication: no preexisting arthrosis at the radiocarpal joint. PMID:9036550

  4. Congenital Hypothyroidism

    MedlinePlus

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  5. Internal calvarial bone distraction in rabbits with delayed-onset coronal suture synostosis.

    PubMed

    Losken, H W; Mooney, M P; Zoldos, J; Tschakaloff, A; Burrows, A M; Smith, T D; Cooper, G M; Kapucu, M R; Siegel, M I

    1998-09-01

    Recent studies have identified a subpopulation of craniosynostotic individuals who exhibit progressive or delayed-onset synostosis and mild craniofacial growth abnormalities. These individuals may be good candidates for nonextirpation, distraction osteogenesis therapy. The present study was designed to test this hypothesis by using internal calvarial bone distraction in a rabbit model with familial delayed-onset craniosynostosis. Data were collected from 159 rabbits: 71 normal controls, 72 with delayed-onset coronal suture synostosis, 8 with delayed-onset coronal suture synostosis and coronal suturectomy, and 8 with delayed-onset coronal suture synostosis and distraction. At 10 days of age, all rabbits had amalgam markers placed on both sides of the frontonasal, coronal, and anterior lambdoidal sutures. At 25 days of age, correction was accomplished through either a 5-mm-wide suturectomy or distraction osteogenesis. An internal distraction appliance was fixed to the frontal and parietal bones and percutaneously and intermittently activated at an average of 0.10 mm/day for 42 days (4.11 mm total). Serial radiographs were taken at 10, 25, 42, and 84 days of age. Results revealed that rabbits with delayed-onset synostosis had significantly (p < 0.01) reduced coronal suture growth rates (0.04 mm/day) compared with the other three groups (0.07 mm/day). Rabbits with suturectomy and rabbits with distraction showed similar coronal suture responses. However, from 42 to 84 days of age, rabbits with distraction showed reduced growth at the vault sutures and abnormal growth patterns in cranial vault width, cranial vault shape, and cranial base angulation compared with the other three groups. Results demonstrated that, although the normal coronal suture growth rate was maintained in rabbits with delayed-onset synostosis using intermittent distraction osteogenesis, normal adult craniofacial structure was not achieved. Such anomalous growth was probably a result of altered growth

  6. Acute plastic bowing of the radius with a distal radioulnar joint injury: a case report.

    PubMed

    Uehara, Masashi; Yamazaki, Hiroshi; Kato, Hiroyuki

    2010-01-01

    Acute plastic bowing is an incomplete fracture with a deformation that shows no obvious macroscopic fracture line or cortical discontinuity. Although cases of acute plastic bowing of the ulna with a dislocation of the radial head have been previously reported, we present here a rare case of acute plastic bowing of the radius with a distal radioulnar joint injury in a 16-year-old boy. Internal fixation of the detached fragment to the ulnar styloid and repair of the triangular fibrocartilagenous complex resulted in the disappearance of wrist pain. In cases of distal radioulnar joint injuries in children or adolescents, radiographs of the entire forearm should be taken to evaluate the existence of radial bowing. PMID:21089197

  7. A rabbit model of human familial, nonsyndromic unicoronal suture synostosis. II. Intracranial contents, intracranial volume, and intracranial pressure.

    PubMed

    Mooney, M P; Siegel, M I; Burrows, A M; Smith, T D; Losken, H W; Dechant, J; Cooper, G; Fellows-Mayle, W; Kapucu, M R; Kapucu, L O

    1998-06-01

    This two-part study reviews data from a recently developed colony of New Zealand white rabbits with familial, nonsyndromic unilateral coronal suture synostosis, and this second part presents neuropathological findings and age-related changes in intracranial volume (ICV) and intracranial pressure (ICP) in 106 normal rabbits and 56 craniosynostotic rabbits from this colony. Brain morphology and anteroposterior length were described in 44 rabbit fetuses and perinates (27 normal; 17 synostosed). Middle meningeal artery patterns were qualitatively assessed from 2-D PCC MRI VENC scans and endocranial tracings from 15, 126-day-old rabbits (8 normal, 7 rabbits with unicoronal synostosis). Brain metabolism was evaluated by assessing 18F-FDG uptake with high-resolution PET scanning in 7, 25-day-old rabbits (3 normal, 4 with unicoronal or bicoronal synostosis). Intracranial contents and ICV were assessed using 3-D CT scanning of the skulls of 30 rabbits (20 normal,10 with unicoronal synostosis) at 42 and 126 days of age. Serial ICP data were collected from 66 rabbits (49 normal; 17 with unicoronal synostosis) at 25 and 42 days of age. ICP was assessed in the epidural space using a Codman NeuroMonitor microsensor transducer. Results revealed that cerebral cortex morphology was similar between normal and synostosed fetuses around the time of synostosis. Significantly (P<0.05) decreased A-P cerebral hemisphere growth rates and asymmetrical cortical remodeling were noted with increasing age in synostotic rabbits. In addition, rabbits with unicoronal suture synostosis exhibited asymmetrical middle meningeal artery patterns, decreased and asymmetrical brain metabolism, a "beaten-copper" intracranial appearance, significantly (P<0.05) decreased ICV, and significantly (P<0.01) elevated ICP compared with normal control rabbits. The advantages and disadvantages of these rabbits as a model for human familial, nonsyndromic unicoronal suture synostosis are discussed, especially in light

  8. [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. PMID:12584977

  9. 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. PMID:26335322

  10. [Congenital defects of tibia and fibula].

    PubMed

    de Meulemeester, F R; Verbout, A J

    1988-12-01

    This study comprised 7 patients with longitudinal anomalies of the knee and leg classified in accordance with the 'classification of congenital limb deficiencies' introduced by Frantz and O'Rahilly. The anomalies were paraxial hemimelia of the fibula (4 instances), paraxial hemimelia of the tibia (6 instances). In the absence of the proximal tibia, therapy consisted of knee reconstruction according to Brown. In the absence of the distal part of the tibia a proximal tibiofibular synostosis was performed. In one instance corrective osteotomy of the tibia was required in the absence of the fibula. Exarticulation according to Syme was resorted in order to cope with an incorrigible abnormal position of the foot and for leg length inequality. The therapy should aim at giving the child walking ability at a normal time. Exarticulation has to be preferred to amputation in the treatment of these patients. PMID:3238675

  11. EFFECTS OF OPEN AND ENDOSCOPIC SURGERY ON SKULL GROWTH AND CALVARIAL VAULT VOLUMES IN SAGITTAL SYNOSTOSIS

    PubMed Central

    Ghenbot, RG; Patel, KB; Skolnick, GB; Naidoo, SD; Smyth, MD; Woo, AS

    2014-01-01

    Background There have been conflicting reports on how sagittal synostosis affects cranial vault volume (CVV) and which surgical approach best normalizes skull volume. In this study, we compare CVV and cranial index (CI) of children with sagittal synostosis (before and after surgery) to those of controls. We also compare the effect of repair type on surgical outcome. Methods CT scans of 32 children with sagittal synostosis and 61 age- and gender-matched controls were evaluated using previously validated segmentation software for CVV and CI. 16 cases underwent open surgery and 16 underwent endoscopic surgery. 27 cases had both preoperative and postoperative scans. Results Age of subjects at CT scan ranged from 1-9 months preoperatively and 15-25 months postoperatively. Mean age difference between cases and matched controls was 5 days. The mean CVV of cases preoperatively was non-significantly (17cc) smaller than controls (p = 0.51). The mean CVV of postoperative children was non-significantly (24cc) larger than controls (p = 0.51). Adjusting for age and gender, there was no significant difference in CVV between open and endoscopic cases postoperatively (β = 48cc, p = 0.31). The mean CI increased 12% in both groups. There was no significant difference in mean postoperative CI (p = 0.18) between the two groups. Conclusions Preoperatively, children with sagittal synostosis have no significant difference in CVV compared to controls. Type of surgery does not seem to affect CI and CVV one year postoperatively. Both open and endoscopic procedures result in CVVs similar to controls. PMID:25569396

  12. Proximal tibiofibular synostosis as a source of ankle pain: a case report.

    PubMed

    Lenin Babu, Vinayagam; 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

  13. 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

  14. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-03-01

    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. PMID:27607320

  15. The Venetian blind technique: modification of the Pi procedure for the surgical correction of sagittal synostosis.

    PubMed

    Wexler, Andrew; Cahan, Leslie

    2012-11-01

    Numerous methods of surgical repair for scaphocephaly (sagittal synostosis) have been reported in the literature, from strip craniectomies to more complex methods of calvarial vault remodeling. While good cosmesis and restoration of a normal anteroposterior diameter may be obtained with these methods, a more rounded contour of the biparietal areas is often more difficult to achieve. We describe a modification of the Pi technique, described by Jane in 1976, that results in a more rounded contour of the biparietal areas. We report our experience on cranial vault remodeling for the correction of scaphocephaly in 51 patients from 1998 to 2011. PMID:23154346

  16. 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. PMID:23429174

  17. Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?

    PubMed

    Hing, Anne V; Click, Eleanor S; Holder, Ursula; Seto, Marianne L; Vessey, Kyle; Gruss, Joseph; Hopper, Richard; Cunningham, Michael L

    2009-05-01

    Multisutural craniosynostosis that includes bilateral lambdoid and sagittal synostosis (BLSS) results in a very characteristic head shape with frontal bossing, turribrachycephaly, biparietal narrowing, occipital concavity, and inferior displacement of the ears. This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as "Mercedes Benz" syndrome. Craniofacial dyssynostosis was first described in 1976 by Dr. Neuhauser when he presented a series of seven patients with synostosis of the sagittal and lambdoid sutures, short stature, and developmental delay. Over the past 30 years nine additional patients with craniofacial dyssynostosis have been reported in the literature adding to the growing evidence for a distinct craniosynostosis syndrome. The term "Mercedes Benz" syndrome was coined by Moore et al. in 1998 due to the characteristic appearance of the fused sutures on three-dimensional CT imaging. In contrast to the aforementioned reported cases of craniofacial dyssynostosis, all three patients had normal development. Recently, there have been several case reports of patients with BLSS and distinct chromosomal anomalies. These findings suggest that BLSS is a heterogeneous disorder perhaps with syndromic, chromosomal, and isolated forms. In this manuscript we will present the largest series of patients with BLSS and review clinical, CT, and molecular findings. PMID:19396832

  18. [Disorders of the distal radioulnar joint following fractures of the distal end of the radius].

    PubMed

    Prommersberger, K-J; van Schoonhoven, J

    2008-03-01

    After a fracture of the distal radius, whether healed in an anatomic position or malunited, many patients complain about problems on the ulnar side of the wrist with pain and decreased range of forearm rotation. In addition many patients are unhappy with the unpleasant appearance of the wrist joint. The complaints are related to tears of the triangular fibrocartilaginous complex, instability, and/or incongruity of the distal radioulnar joint and degenerative changes. Malunion of the distal radius must be taken into account when discussing treatment options. The purpose of this paper is to describe a treatment algorithm with respect to the clinical symptoms, the pathology as well as the presence or absence of a deformity of the distal radius. PMID:18283425

  19. Volar Stabilization of the Distal Radioulnar Joint for Chronic Instability Using the Pronator Quadratus.

    PubMed

    Lee, Sang Ki; Lee, Jae Won; Choy, Won Sik

    2016-04-01

    In cases of chronic distal radioulnar joint (DRUJ) instability without DRUJ arthritis, reconstruction of the mechanical integrity of the radioulnar ligaments of the triangular fibrocartilage complex has been considered an ideal surgical treatment. However, reconstructive methods have several disadvantages.We evaluated volar stabilization of the DRUJ for chronic instability using the pronator quadratus (PQ) to determine whether it provided (1) proper stability, (2) restored wrist function, (3) was relatively convenient, and (4) was associated with a low complication rate. Altogether, 21 patients with chronic DRUJ instability (12 men, 9 women) with a mean age of 34 years (range, 17-65 years) were enrolled in the study. The diagnostic criteria were as follows: 3 months after the injury, greater than 8 mm of palmar-dorsal translation of the ulna relative to the radius, there was a lack of clear end point resistance compared with the contralateral side, and nonstressed computed tomographic scans provided supporting evidence. Follow-up was at least 12 months (range, 12-38 months). Palmar-dorsal translation of the ulna relative to the radius was decreased significantly from 10 to 4 mm (P = 0.028) and epicenter was increased significantly at the last follow-up [P = 0.015/0.026 (70 degrees of supination/neutral, respectively)]. Wrist range of motion was not significantly different, but grip strength had increased from 72% to 91%. Disabilities of the arm, shoulder, and hand and patient-rated wrist evaluation were also decreased compared with preoperative measurements [34.4 to 12.5/42.7 to 14.7 (disabilities of the arm, shoulder, and hand/patient-rated wrist evaluation, respectively)]. Pronator quadratus advancement volar stabilization provided proper stability, restored wrist function, was relatively convenient, and was associated with few complications. Our experience indicates that it is an acceptable, effective treatment option to reverse DRUJ instability in patients

  20. [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. PMID:27076244

  1. Congenital toxoplasmosis

    MedlinePlus

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  2. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  3. Congenital cataract

    MedlinePlus

    ... of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi-Hünermann syndrome Down syndrome (trisomy 21) Ectodermal ... Images Eye Cataract - close-up of the eye Rubella syndrome Cataract References Dahan E. Pediatric cataract surgery. ...

  4. Congenital syphilis

    MedlinePlus

    ... fact that this disease can be cured with antibiotics if caught early, rising rates of syphilis among pregnant women in the United States have increased the number of infants born with congenital syphilis.

  5. Congenital rubella

    MedlinePlus

    ... mother is infected with the virus that causes German measles. Congenital means the condition is present at ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier ...

  6. Congenital rubella

    MedlinePlus

    ... is infected with the virus that causes German measles. Congenital means the condition is present at birth. ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... . 8th ed. Philadelphia, PA: Elsevier Churchill Livingstone; ...

  7. Surgical induction of metacarpal synostosis for treatment of ectrodactyly in a dog.

    PubMed

    Pisoni, L; Del Magno, S; Cinti, F; Dalpozzo, B; Bellei, E; Cloriti, E; Joechler, M

    2014-01-01

    Ectrodactyly is a rare developmental anomaly of the distal part of the forelimb. It is characterized by the presence of an abnormal longitudinal soft tissue and osseous separation or cleft between the digits and the metacarpal bones. It can be associated with hypoplasia, aplasia and malformation of one or more bones of the antebrachium, carpus, metacarpus and digits. Unilateral ectrodactyly and moderate lameness were diagnosed in a young female dog. The dog was treated surgically with reconstruction of soft tissues and stabilization of the metacarpal bones by two nylon cerclage sutures. After three years a mild residual lameness was present. Radiographic signs of synostosis between the metacarpal bones II, III and IV with presence of a cleft between carpal bones II and III were observed. PMID:24569849

  8. 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. PMID:25691418

  9. [Congenital syphilis].

    PubMed

    Tabák, Réka; Tabák, Adám; Várkonyi, Viktória

    2010-01-10

    Syphilis has been a re-emerging disease in the past few decades. As a consequence, the prevalence of congenital syphilis is expected to be on the rise. Maternal syphilis may be related to several pathologies, such as miscarriage, stillbirth, or congenital syphilis in the child. Infants that acquire syphilis in utero are frequently asymptomatic, and the organ damage caused by the infection may be apparent only years later. Syphilis is a curable disease, and most of its complications in the infant can be prevented by screening and treating the mother. Every newborn potentially infected should be treated with penicillin immediately starting on the day of birth. PMID:20061233

  10. 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…

  11. 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." PMID:25726292

  12. 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

  13. Rapidly polymerizing injectable click hydrogel therapy to delay bone growth in a murine re-synostosis model.

    PubMed

    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

    2014-12-01

    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 regrowth, known as re-synostosis, which necessitates additional surgical intervention. Bone morphogenetic 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 regrowth 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

  14. 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

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

    PubMed

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

    2016-07-01

    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 min 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). 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. © 2015 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 34:1234-1240, 2016. PMID:26662276

  16. 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

  17. Sagittal synostosis: II. Cranial morphology and growth after the modified pi-plasty.

    PubMed

    Guimarães-Ferreira, José; Gewalli, Fredrik; David, Lisa; Darvann, Tron A; Hermann, Nuno V; Kreiborg, Sven; Friede, Hans; Lauritzen, Claes G K

    2006-01-01

    The aim of this study was to characterise the postoperative cranial growth and morphology after a modified pi-plasty for sagittal synostosis. The shape of the skull of 82 patients with isolated premature synostosis of the sagittal suture (SS group) operated on with a modified pi-plasty was studied longitudinally. Forty-five children with unilateral incomplete cleft lip (UICL), evaluated longitudinally at the ages of 2.4 and 23.2 months were used as controls. A standardised radiocephalometric technique was used for image acquisition. The radiocephalograms were analysed using a modification of a method developed by Kreiborg, which included the digitisation of 89 landmarks of the calvaria, cranial base, and orbit (43 in the lateral and 46 in the frontal projections), the production of mean shape plots for each group, and the intergroup comparison of a series of 78 variables (linear distance between selected landmarks, and angles defined by groups of three landmarks). Paired and unpaired t tests were used to assess the differences between the variables studied. These were accepted as significant for values of p<0.01 and were presented as coloured segments or areas in the respective plots. In a comparative analysis with the mean UICL lateral plots, the mean preoperative lateral plots of the study group (SS) showed that the anterior slope of the forehead was more pronounced and it was also more convex. The vertex area was located more anteriorly and was less convex. The occipital curvature was more prominent. Comparison of the mean frontal plots showed a deficiency in convexity and lateral projection of the upper parietal regions, and the line of maximum skull width was lower. The postoperative mean lateral plots of the study group showed a correction of the exaggerated anterior inclination of the forehead and a reduction of the abnormal occipital convexity. However, there was little change in the vertex region and it remained flatter than in the control group. In the

  18. 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. PMID:26704658

  19. 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

  20. Congenital Adrenal Hyperplasia

    MedlinePlus

    MENU Return to Web version Congenital Adrenal Hyperplasia Overview What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia, or CAH, is a disorder that affects the adrenal glands. The adrenal ...

  1. A case of unilateral coronal synostosis from Medieval Hungary (9th century A.D.).

    PubMed

    Évinger, Sándor; Hajdu, Tamás; Biró, Gergely; Zádori, Péter; Marcsik, Antónia; Molnár, Erika; Wolff, Katalin

    2016-01-01

    A unique single suture craniosynostosis case from the 9(th) century is presented in this paper. Although craniosynostosis is a fairly common pediatric anomaly nowadays, its occurrence in archaeological collections is an uncommon precedent. Since the diagnosis and treatment of premature cranial suture closure usually happens at an early age, evaluation of the whole developmental process is a rare opportunity. The right-sided coronal suture synostosis of this 30-35 years old woman gives an interesting opportunity to observe the effect of this phenomenon in adulthood. Only slight distortion of the viscerocranium and no bony signs of elevated intracranial pressure can be seen on the skull. The women suffered remarkable bending of the whole face and cranial base of the midsagittal plane. Besides the aesthetic disorder, the condition might have contributed to a chronic headache and visual disturbances. The lack of any other typical symptom suggests the diagnosis of isolated craniosynostosis or a milder type of syndromic craniosynostosis, the possibility of an underlying causative mutation cannot be ruled out. PMID:26555924

  2. Role of intraoral distractors in management of cranial synostosis: An initial experience

    PubMed Central

    Sahoo, Nandakishor; Roy, Indranil Deb; Gupta, Vishal; Desai, Ajay Premanand

    2014-01-01

    Objective: The objective of the following study is to evaluate the results of strip craniectomy with distraction osteogenesis, using the intraoral distractor devices, as a modality of treatment for craniosynostosis. Materials and Methods: Two cases of cranial synostosis were selected for this study. The cases were operated for strip craniectomy with distraction osteogenesis using a pair of miniaturized intraoral distractor devices. Distraction was carried out after a latency period of 4 days at a rate of 0.5 mm twice a day. Total separation of osteotomized segments achieved was in the range of 25-28 mm. Results: Both patients were evaluated clinico-radiologically at 3, 6 and 12 months postoperatively. There was an increase in the occipital frontal circumference with improvement in the contour of the skull. Both the cases showed marked improvement of bowel habits, bladder control and cognitive behavior. Radiologically copper-beaten appearance reduced considerably suggesting improved intracranial pressure. Conclusion: Combination of distraction osteogenesis with strip craniectomy for the management of craniosynostosis is an effective treatment modality with promising results. PMID:24987594

  3. Proximal tibiofibular bifurcation synostosis for the management of longitudinal deficiency of the tibia.

    PubMed

    Davids, J R; Meyer, L C

    1998-01-01

    Three adults with severe longitudinal deficiency of the tibia (LDT), in which an unossified proximal tibial anlage was present, who had been treated with proximal tibiofibular bifurcation synostosis (PTFBS) in early childhood, were evaluated between 20 and 31 years after the index procedure. All three were found to be functioning well as below-the-knee (BK) amputees. Mediolateral stability and anteroposterior instability of the knee were present in all cases. Instrumented motion analysis revealed diminished loading characteristics of the prosthetic limb, similar to that described for BK amputees in general. The most significant gait deviations at the knee unique to this study group were a quadriceps-avoidance gait pattern and an increased dynamic varus alignment. Instrumented muscle testing suggested that these deviations were a consequence of ligamentous instability. This study supports the concept that the presence of a proximal tibial anlage in severe LDT is indication for a surgical strategy that preserves the biological knee joint. The PTFBS maintains the integrity of the knee-extensor mechanism, the fibular collateral ligament, the tibiofemoral joint capsule, and the medial collateral ligament, enhancing the long-term stability and function of the knee joint. PMID:9449111

  4. Congenital Anomalies in Infant with Congenital Hypothyroidism

    PubMed Central

    Razavi, Zahra; Yavarikia, Alireza; Torabian, Saadat

    2012-01-01

    Objective Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. Methods The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life. Results A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males) were recruited during the period between May 2006-2010. Overall, 30 (20%) infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1%) had congenital cardiac anomalies such as: ASD (n=3), VSD (n=2), PS (n =1), PDA (n=1). Three children (2.6%) had developmental dysplasia of the hip (n=3). Conclusion The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies. PMID:23074545

  5. 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

  6. A rabbit model of human familial, nonsyndromic unicoronal suture synostosis. I. Synostotic onset, pathology, and sutural growth patterns.

    PubMed

    Mooney, M P; Siegel, M I; Burrows, A M; Smith, T D; Losken, H W; Dechant, J; Cooper, G; Kapucu, M R

    1998-06-01

    Poswillo has stated, "The more severe anomalies of the calvaria, such as plagiocephaly, Crouzon [syndrome], and Apert syndrome still defy explanation, in the absence of an appropriate animal system to study" (p. 207). This two-part study reviews data from a recently developed colony of New Zealand white rabbits with familial, nonsyndromic unilateral coronal suture synostosis. Part 1 presents pathological findings and compensatory sutural growth data from 109 normal rabbits and 82 craniosynostotic rabbits from this colony. Synostotic foci, onset, and progression were described in the calvariae from 102 staged (fetal days 21, 25, 27, 33; term = 30 days) fetuses (39 normal, 63 synostosed). Calvarial suture growth patterns from 10 to 126 days of age were assessed from serial radiographs obtained from 89 rabbits (70 normal rabbits and 19 rabbits with unicoronal suture synostosis) with amalgam bone marker implants. Perinatal results revealed that by fetal day 25 the synostotic focal point in synostotic rabbits consistently originated from the endocortical surface of the calvaria in the middle of the coronal suture at a presumed high-tension, interdigitating zone. Histological analysis revealed hyperostotic osteogenic fronts on the affected side compared with the unaffected side. Postnatal sutural growth data revealed a predictable pattern of plagiocephaly (contralateral coronal sutures growing more than ipsilateral sutures and ipsilateral frontonasal and anterior lambdoidal sutures growing more than contralateral sutures), which resulted in early cranial vault deformities and a double "S" shape torquing towards the affected side. The advantages and disadvantages of these rabbits as a model for human familial, nonsyndromic unicoronal suture synostosis are discussed, especially in light of recent cytokine and genetic findings from human craniosynostotic studies. PMID:9694335

  7. Little Evidence of Association Between Severity of Trigonocephaly and Cognitive Development in Infants With Single-Suture Metopic Synostosis

    PubMed Central

    Starr, Jacqueline R.; Lin, H. Jill; Ruiz-Correa, Salvador; Cunningham, Michael L.; Ellenbogen, Richard G.; Collett, Brent R.; Kapp-Simon, Kathleen A.; Speltz, Matthew L.

    2012-01-01

    OBJECTIVES To measure severity of trigonocephaly among infants with single-suture metopic craniosynostosis by using a novel shape descriptor, the trigonocephaly severity index (TSI), and to evaluate whether degree of trigonocephaly correlates with their neurodevelopmental test scores. METHODS We conducted a multicenter cross-sectional and longitudinal study, identifying and recruiting 65 infants with metopic synostosis before their corrective surgery. We obtained computed tomography images for 49 infants and measured the presurgical TSI, a 3-dimensional outline-based cranial shape descriptor. We evaluated neurodevelopment by administering the Bayley Scales of Infant Development, Second Edition, and the Preschool Language Scale, Third Edition, before surgery and at 18 and 36 months of age. We fit linear regression models to estimate associations between test scores and TSI values adjusted for age at testing and race/ethnicity. We fit logistic regression models to estimate whether the odds of developmental delay were increased among children with more severe trigonocephaly. RESULTS We observed little adjusted association between neurodevelopmental test scores and TSI values, and no associations that persisted at 3 years. Trigonocephaly was less severe among children referred at older ages. CONCLUSION We observed little evidence of an association between the severity of trigonocephaly among metopic synostosis patients and their neurodevelopmental test scores. Detecting such a relationship with precision may require larger sample sizes or alternative phenotypic quantifiers. Until studies are conducted to explore these possibilities, it appears that although associated with the presence of metopic synostosis, the risk of developmental delays in young children is unrelated to further variation in trigonocephalic shape. PMID:20644427

  8. Conservative Treatment Is Sufficient for Acute Distal Radioulnar Joint Instability With Distal Radius Fracture.

    PubMed

    Lee, Sang Ki; Kim, Kap Jung; Cha, Yong Han; Choy, Won Sik

    2016-09-01

    Treatments for acute distal radioulnar joint (DRUJ) instability with distal radius fracture vary from conservative to operative treatment, although it seems to be no consensus regarding which treatment is optimal. This prospective randomized study was designed to compare the clinical outcomes for operative and conservative treatment of acute DRUJ instability with distal radius fracture, according to the presence or absence and type of ulnar styloid process fracture and the degree of its displacement. Between July 2008 and February 2013, we enrolled 157 patients who exhibited an unstable DRUJ during intraoperative manual stress testing (via the ballottement test) after fixation of the distal radius. Patients were classified according to the type of the ulnar styloid process fracture, using preoperative wrist radiography, and each group was divided into subgroups, according to their treatment method. We then compared the clinical outcomes between the conservative and operative treatments, using their range of motion; Disabilities of the Arm, Shoulder, and Hand score; modified Mayo wrist score; and grip strength. At 3 months after surgery, among patients without ulnar styloid process fracture, the flexion-extension range was 79 ± 15° after supination sugar-tong splinting (group A-1), 91 ± 14° after DRUJ transfixation (group A-2), and 89 ± 10° after arthroscopic triangular fibrocartilage complex repair (group A-3); the operative treatments provided greater joint motion ranges than conservative treatment. The groups with ulnar styloid process fractures at the tip (group B) or base (group C) also exhibited better clinical outcomes after the operative treatments, compared with after the conservative treatment. However, at the final follow-up, groups A-1, A-2, and A-3 exhibited similar flexion-extension ranges (122 ± 25°, 119° ± 18°, and 120° ± 16°, respectively) and modified Mayo wrist scores (87 ± 7, 89 ± 8, and 85 ± 9). Thus, the conservative and

  9. Congenital neuroblastoma

    PubMed Central

    Evans, A. R.

    1965-01-01

    The clinical histories and post-mortem findings in five cases of neuroblastoma are described, and an account given of the microscopic characteristics of the tumours. In four of the cases the tumour was present at birth and was probably so in the fifth case. In only one case was the presence of the malignant tumour a significant factor in causing death. The differential diagnosis of such tumours is discussed. The accumulated evidence of many recorded cases suggests that neuroblastoma, becoming manifest in the early months or weeks of life, and congenital tumour, would be included in such a group, and has an appreciably better prognosis than has this same tumour when it becomes manifest in later childhood. The literature is briefly reviewed to illustrate this aspect of prognosis and possible reasons for it are indicated. Images PMID:14247705

  10. Congenital Cholesteatoma.

    PubMed

    Walker, David; Shinners, Michael J

    2016-05-01

    Congenital cholesteatoma is one of the more common causes of the onset of childhood conductive hearing loss unrelated to middle ear effusion. If undiagnosed, the disease can progress to irreversibly destroy the conductive hearing architecture, as well as the surrounding skull base of the lateral temporal bone. When diagnosed early, the growth can be removed and the conductive hearing mechanism preserved in the vast majority of patients. Because most children are asymptomatic, the burden falls on primary care providers to perform pneumatic otoscopy and visualize all quadrants of the tympanic membrane even in young children who frequently resist attempts to conduct a thorough examination to rule out suspicious lesions. [Pediatr Ann. 2016;45(5):e167-e170.]. PMID:27171804

  11. Congenital amusia.

    PubMed

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. PMID:23622169

  12. Congenital hypothyroidism

    PubMed Central

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  13. 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. PMID:25850875

  14. Congenital hypothyroidism.

    PubMed

    Rastogi, Maynika V; LaFranchi, Stephen H

    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

  15. A novel technique for detecting instability of the distal radioulnar joint in complete triangular fibrocartilage complex lesions.

    PubMed

    Hess, Florian; Farshad, Mazda; Sutter, Reto; Nagy, Ladislav; Schweizer, Andreas

    2012-11-01

    We performed this study to investigate whether discrepancy of bilateral dorsovolar shift of the distal radioulnar joint (DRUJ) is decisive for the diagnosis of DRUJ instability. Although several cadaver studies have quantified the amount of physiological dorsovolar shift, so far, there is no reliable method of quantification of DRUJ mobility in daily practice. The aim was to describe a novel sonographic method of quantifying DRUJ instability and evaluate its reliability and validity. In this study, 40 healthy volunteers and 17 patients with complete rupture of the triangular fibrocartilage complex (TFCC) underwent sonographic quantification of the grade of instability of their DRUJ bilaterally. Dorsovolar ulnar head translation relative to the distal radius was quantified by means of ultrasonography performed in a transversal plane through the ulnar head and Lister tubercle. Measurements were done while actively pressing the volar surface of the hand onto a brick 30 degrees pronated, and after lifting the hand. A quotient Q of the radioulnar distance (distance between the dorsal radius surface and the ulnar head) between the unloaded and loaded wrist was calculated for differentiation of a normal and unstable DRUJ. The Q ratio of the 17 patients with unilateral TFCC lesion was significantly different between the pathologic side and the contralateral wrist (1.19 vs. 0.54, p < 0.001). There was no significant difference in the Q ratio in the 40 healthy volunteers between the right and left side or dominant and nondominant wrist. A Q ratio > 0.8 was found to be a reasonable cut-off for pathologic laxity of the DRUJ with a sensitivity of 88% and a specificity of 81%. A quotient Q > 0.8 determines instability of the DRUJ reliably. This was a level II diagnostic study. PMID:24179720

  16. Radiographic and Arthroscopic Assessment of DRUJ Instability Due to Foveal Avulsion of the Radioulnar Ligament in Distal Radius Fractures

    PubMed Central

    Nakamura, Toshiyasu; Iwamoto, Takuji; Matsumura, Noboru; Sato, Kazuki; Toyama, Yoshiaki

    2014-01-01

    Background As the triangular fibrocartilage complex (TFCC) anchors the distal radius to the ulna via the radioulnar ligament (RUL), a severely displaced distal fragment of the radius may be associated with a foveal avulsion of the TFCC. The purpose of this retrospective study was to assess, radiographically and arthroscopically, the relationship between displacement of the radius, the ulnar styloid, and avulsion of the RUL resulting in distal radioulnar joint (DRUJ) instability. Materials and Methods Twenty-nine wrists of 29 patients with intra- and extra-articular distal radius fractures/malunion who underwent reduction or a corrective osteotomy of the displaced/malunited fracture, and/or wrist arthroscopy, were assessed radiographically and arthroscopically. Radial translation, radial inclination, radial shortening, volar or dorsal tilt, and the presence of an ulnar styloid fracture with more than 4 mm of displacement were measured from the initial films. Radiocarpal arthroscopy was used to assess peripheral lesions of the TFCC, while DRUJ arthroscopy was used to assess the foveal attachment. The relationship between displacement of the distal radius or the ulnar styloid fracture and the TFCC injury, including avulsion of the RUL, was recorded. Results Univariate analysis revealed that increased radial translation, decreased radial inclination, increased radial shortening, and an ulnar styloid fragment radially displaced by more than 4 mm were significant predictors of RUL avulsion at the fovea. Volar or dorsal tilt of the radius and ulnar variance did not correlate with RUL avulsion or TFCC injuries. Multiple logistic regression analysis revealed that radial translation was an independent risk factor of foveal avulsion of the RUL. Conclusions Increased radial translation and radial shortening and decreased radial inclination of the distal fragment can be associated with a foveal avulsion of the RUL. Radial translation can be an independent risk

  17. Radiographic and Arthroscopic Assessment of DRUJ Instability Due to Foveal Avulsion of the Radioulnar Ligament in Distal Radius Fractures.

    PubMed

    Nakamura, Toshiyasu; Iwamoto, Takuji; Matsumura, Noboru; Sato, Kazuki; Toyama, Yoshiaki

    2014-02-01

    Background As the triangular fibrocartilage complex (TFCC) anchors the distal radius to the ulna via the radioulnar ligament (RUL), a severely displaced distal fragment of the radius may be associated with a foveal avulsion of the TFCC. The purpose of this retrospective study was to assess, radiographically and arthroscopically, the relationship between displacement of the radius, the ulnar styloid, and avulsion of the RUL resulting in distal radioulnar joint (DRUJ) instability. Materials and Methods Twenty-nine wrists of 29 patients with intra- and extra-articular distal radius fractures/malunion who underwent reduction or a corrective osteotomy of the displaced/malunited fracture, and/or wrist arthroscopy, were assessed radiographically and arthroscopically. Radial translation, radial inclination, radial shortening, volar or dorsal tilt, and the presence of an ulnar styloid fracture with more than 4 mm of displacement were measured from the initial films. Radiocarpal arthroscopy was used to assess peripheral lesions of the TFCC, while DRUJ arthroscopy was used to assess the foveal attachment. The relationship between displacement of the distal radius or the ulnar styloid fracture and the TFCC injury, including avulsion of the RUL, was recorded. Results Univariate analysis revealed that increased radial translation, decreased radial inclination, increased radial shortening, and an ulnar styloid fragment radially displaced by more than 4 mm were significant predictors of RUL avulsion at the fovea. Volar or dorsal tilt of the radius and ulnar variance did not correlate with RUL avulsion or TFCC injuries. Multiple logistic regression analysis revealed that radial translation was an independent risk factor of foveal avulsion of the RUL. Conclusions Increased radial translation and radial shortening and decreased radial inclination of the distal fragment can be associated with a foveal avulsion of the RUL. Radial translation can be an independent risk

  18. Congenital hypothyroidism.

    PubMed

    Abduljabbar, Mohammad A; Afifi, Ashraf M

    2012-01-01

    Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helped in understanding the early events in thyroid gland embryogenesis, mechanisms of thyroid action in the brain, the molecular basis for many of the inborn errors of thyroid hormonogenesis, and thyroid hormone action. However, many questions and challenges are still not answered. For example, the increasing numbers of surviving small and premature neonates with abnormalities in thyroid function need definite diagnostic criteria and whether they require medical therapy. Another challenge is the dilemma of finding the best screening methodology that is sensitive and cost effective. PMID:22570946

  19. 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

  20. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  1. Congenital heart disease

    MedlinePlus

    Congenital heart disease is a problem with the heart's structure and function that is present at birth. ... Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common ...

  2. Adult Congenital Heart Association

    MedlinePlus

    ... to ACHA Search The futures of adults with congenital heart disease made brighter by their pasts Get Involved 2016 ... conference theme is "The Changing Landscape of Adult Congenital Heart Disease." Join Us Help us improve the quality of ...

  3. Congenital Heart Information Network

    MedlinePlus

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  4. 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

  5. Dislocation of the distal radioulnar joint associated with a transstyloid radiocarpal fracture dislocation. A case report and review of the literature.

    PubMed

    Stoffelen, D; Fortems, Y; De Smet, L; Broos, P

    1996-03-01

    Dislocations of the distal radio-ulnar joint (DRUJ) can be isolated or combined with fractures. Cases of DRUJ dislocations have been described with Galleazi fractures, open radius and ulna fractures and intraarticular fractures of the distal radius. We report a case of a volar DRUJ dislocation combined with a transstyloid radio-carpal dislocation. Because of severe instability of the wrist, open reduction of the radial styloid combined with an open reduction of the dislocated DRUJ is advised. PMID:8669257

  6. Congenital Intralabyrinthine Cholesteatoma

    PubMed Central

    Prasad, Sanjay; Prasad, Kiran; Azadarmaki, Roya

    2014-01-01

    A patient with a congenital intralabyrinthine cholesteatoma is presented. High-resolution computerized tomographic scans and intraoperative photomicrographs display features of intralabyrinthine extension. We discuss pathogenetic theories for the development of congenital intralabyrinthine cholesteatoma. The distinction of this condition from congenital cholesteatoma with labyrinthine erosion is discussed. PMID:25057421

  7. Congenital sternoclavicular dermoid sinus.

    PubMed

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  8. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  9. Giant congenital nevus

    MedlinePlus

    A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... A nevus will appear as a dark-colored patch with any of the ... Hair Regular or uneven borders Smaller affected areas near the ...

  10. Congenital CMV Infection

    MedlinePlus

    ... CMV Babies Born with CMV (Congenital CMV Infection) Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Detection and Intervention Helping Children With Congenital CMV Language: English Español (Spanish) File Formats Help: How do I ...

  11. 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.

  12. Congenital myasthenia gravis.

    PubMed

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  13. Comparison between open and arthroscopic-assisted foveal triangular fibrocartilage complex repair for post-traumatic distal radio-ulnar joint instability.

    PubMed

    Luchetti, R; Atzei, A; Cozzolino, R; Fairplay, T; Badur, N

    2014-10-01

    The aim of this study was to assess the objective and subjective functional outcomes after foveal reattachment of proximal or complete ulnar-sided triangular fibrocartilage complex lesions by two surgical procedures: an open technique or an arthroscopically assisted repair. The study was done prospectively on 49 wrists affected by post-traumatic distal radio-ulnar joint instability. Twenty-four patients were treated with the open technique (Group 1) and 25 by the arthroscopically assisted technique (Group 2). Magnetic resonance imaging demonstrated a clear foveal detachment of the triangular fibrocartilage complex in 67% of the cases. Arthroscopy showed a positive ulnar-sided detachment of the triangular fibrocartilage complex (positive hook test) in all cases. Distal radio-ulnar joint stability was obtained in all but five patients at a mean follow-up of 6 months. Both groups had improvement of all parameters with significant differences in wrist pain scores, Mayo wrist score, Disability of the Arm, Shoulder and Hand questionnaire and Patient-Rated Wrist/Hand Evaluation questionnaire scores. There were no significant post-operative differences between the two groups in the outcome parameters except for the Disability of the Arm Shoulder and Hand questionnaire score, which was significantly better in Group 2 (p < 0.001). PMID:23962870

  14. Congenital heart disease

    MedlinePlus

    ... about genetic counseling and screening if you have a family history of cogenital heart disease. ... Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  15. Adult Congenital Heart Association

    MedlinePlus

    ... survivable, manageable, yet in the routine years between infancy and adulthood, sometimes forgettable. The Adult Congenital Heart ... understand the continuum of the disease from its infancy. The Adult Congential Heart Association brings together valuable ...

  16. 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 ...

  17. 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

  18. 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. PMID:27043388

  19. Adults with Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Web Booklet: Adults With Congenital Heart Defects Updated:Apr ... topic from the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: ...

  20. Congenital heart defect - corrective surgery

    MedlinePlus

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm ... 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/ ...

  1. Impact of Congenital Heart Defects

    MedlinePlus

    ... complex lesions, limitations are common. Some children with congenital heart disease have developmental delay or other learning difficulties. What ... defects? Successful treatment requires highly specialized care. Severe congenital heart disease requires extensive financial resources both in and out ...

  2. 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. PMID:27301600

  3. Congenital hyperinsulinism with hyperammonaemia

    PubMed Central

    Pschibul, Alex; Müller, Jörg; Fahnenstich, Hubert

    2010-01-01

    Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia. Metabolic workup revealed hyperinsulinism combined with mild hyperammonaemia as well as elevation of α-ketoglutarate in urine. Genetic testing demonstrated a de novo mutation in exon 7 of the glutamate dehydrogenase gene on chromosome 10. Episodes of hypoglycaemia responded to treatment with diazoxide. The differential diagnosis, pathophysiology and treatment of congenital hyperinsulinism is discussed. PMID:22315648

  4. 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

  5. Congenital midline nasofrontal masses.

    PubMed

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  6. Congenital muscular torticollis.

    PubMed

    Nilesh, Kumar; Mukherji, Srijon

    2013-07-01

    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

  7. 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

  8. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  9. The congenital cranial dysinnervation disorders.

    PubMed

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. PMID:25633065

  10. Congenital alopecia universalis.

    PubMed

    Saraswat, P K; Laha, N N

    1989-09-01

    A case of congenital alopecia universalis without any other ectodermal defect and mental abnormality is described in a girl of eight years. There was no family history in any of the members. The child was born of a non-consanguineous marriage. PMID:2632563

  11. OPERATION FOR CONGENITAL CATARACT

    PubMed Central

    Barkan, Otto

    1949-01-01

    The traditional treatment of needling or discission of congenital cataract or membrane is open to many serious objections. Removal of the cataract by a modified form of linear extraction is recommended. The technique, with recent improvements which further assure extraction without hazard in early infancy, is described. PMID:18125222

  12. 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 ...

  13. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  14. Congenital Bilateral Zygomatico-Maxillo-Mandibular Fusion Associated With Gum Fusion.

    PubMed

    Al-Mahdi, Akmam H; Koppel, David A; Al-Jumaily, Hassanien A; Mohammed, Ali Abdul Hameed; Boyd, Deborah

    2016-01-01

    A congenial syngnathia is very rare condition. It can be simple mucosal fusion (synechiae), or complete bony fusion (synostosis) between the maxilla or zygoma and the mandible. Fusion of the ascending ramus of mandible to maxilla and zygoma is less common than fusions of the alveolar ridges of the mandible to the maxilla. Bony syngnathia is either isolated or complex in form. There are 59 cases of congenital bony syngnathia reported in the literature: the first report was by Burket in 1936. There are 16 reported cases of zygomatico-maxillo-mandibular fusion. In the reported cases, women expressed the isolated form more commonly whereas men demonstrated a more complex pattern of disease. The authors present another patient of bony syngnathia involving bilateral fusion of the ascending ramus and body of the mandible with the maxillary complex in a young man. Early surgery was performed to release the bony and soft tissue fusion on the eighth day from the baby's birth. A second operation was performed for recurrence when the baby was 2.5 months old. A customized splint, an intense postoperative program of mouth exercises, and close follow-up aims to prevent further refusion. PMID:26703053

  15. Congenital hemifacial hyperplasia.

    PubMed

    Deshingkar, S A; Barpande, S R; Bhavthankar, J D

    2011-07-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  16. Congenital hemophagocytic reticulosis.

    PubMed

    Koto, A; Morecki, R; Santorineou, M

    1976-04-01

    A fatal case of an apparently congenital form of hemophagocytic reticulosis is reported. The onset was manifested by hyperbilirubinemia and hepatosplenomegaly which were present at birth and persisted throughout life. Fever, anemia and pancytopenia developed at 1 month of age and became progressively worse. A splenectomy was performed at the age of 3 months, but the child died one day later with disseminated intravascular coagulation and pulmonary hemorrhage. The literature is reviewed with regard to the relationship of this case to (familial) hemophagocytic reticulosis and malignant histiocytosis (histiocytic medullary reticulosis). It is suggested that congenital hemophagocytic reticulosis, as described here, (familial) hemophagocytic reticulosis in infants, and malignant histiocytosis in adults all represent the same basic disorder with different ages of onset and clinicopathologic manifestations. PMID:1266810

  17. 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

  18. Congenital scoliosis - Quo vadis?

    PubMed

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-04-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  19. 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. PMID:17214531

  20. Other congenital abnormalities.

    PubMed

    Cobbett, J R

    1974-06-29

    The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion. PMID:4853507

  1. Congenital Cataract Screening.

    PubMed

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  2. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  3. 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.

  4. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  5. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Registry: Leber congenital amaurosis 9 National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus ... Additional NIH Resources (1 link) National Eye Institute: Gene Therapy for Leber Congenital Amaurosis Educational Resources (3 links) ...

  6. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2015-10-26

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

  7. Congenital limb deficiency disorders.

    PubMed

    Wilcox, William R; Coulter, Colleen P; Schmitz, Michael L

    2015-06-01

    Congenital limb deficiency disorders (LDDs) are birth defects characterized by the aplasia or hypoplasia of bones of the limbs. Limb deficiencies are classified as transverse, those due to intrauterine disruptions of previously normal limbs, or longitudinal, those that are isolated or associated with certain syndromes as well as chromosomal anomalies. Consultation with a medical geneticist is advisable. Long-term care should occur in a specialized limb deficiency center with expertise in orthopedics, prosthetics, and occupational and physical therapy and provide emotional support and contact with other families. With appropriate care, most children with LDDs can lead productive lives. PMID:26042905

  8. [Congenital myasthenic syndrome].

    PubMed

    Araga, Shigeru

    2008-06-01

    Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders in which neuromuscular transmission is compromised by one or more specific mechanisms. CMS are clinically diagnosed by a history of fatigability and muscle weakness since infancy or early childhood, a decremental EMG response and the absence of acetylcholine receptor antibodies. CMS form a heterogeneous group of disorders which are classified as originating from presynaptic, synaptic or postsynaptic defects. Molecular genetic studies reveal a various type of mutations in synapse-associated genes. However, the genetic abnormalities of many CMS are still unresolved. This article outlines the classification of CMS and etiology of individual forms. PMID:18540366

  9. Precalcaneal Congenital Fibrolipomatous Hamartoma

    PubMed Central

    Yang, Ji-Hye; Park, Oun-Jae; Kim, Jeong-Eun; Won, Chong-Hyun; Chang, Sung-Eun; Choi, Jee-Ho; Moon, Kee-Chan

    2011-01-01

    Precalcaneal congenital fibrolipomatous hamartomas (PCFHs) are characterized clinically by the presence of unilateral or bilateral, asymptomatic nodules in the medial precalcaneal plantar region of the heel. They are skin colored and usually painless nodules. In most patients, the lesions appear within the first few months of life, but they may also be present at birth. Generally PCFHs are benign, but they can grow in proportion to the growth of the infants. Here, we report the case of a 4-month-old boy with a solitary, localized skin-colored nodule on the precalcaneal plantar region of his right heel, diagnosed as a PCFH. PMID:21738373

  10. Nonclassic Congenital Adrenal Hyperplasia

    PubMed Central

    Witchel, Selma Feldman; Azziz, Ricardo

    2010-01-01

    Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH. PMID:20671993

  11. Congenital nephrotic syndrome.

    PubMed

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  12. CONGENITAL DIAPHRAGMATIC HERNIA

    PubMed Central

    Adams, Burton E.

    1954-01-01

    Treatment of congenital diaphragmatic hernia in infants is a matter of semi-emergency and should be done as soon as adequate preparations can be made because sometimes fatal complications develop swiftly. In preoperative preparation there is great advantage in thorough decompression of the abdominal viscera, stomach, bowel and bladder. As to operation, the author believes the abdominal approach has most to recommend it. In the postoperative period, continued gastric suction for a brief time, parenteral administration of fluids and use of a Mistogen tent with a high moist oxygen content will facilitate rapid recovery. ImagesFigure 1. PMID:13209363

  13. 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

  14. Congenital anterior urethral diverticulum.

    PubMed

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  15. Congenital Median Upper Lip Fistula

    PubMed Central

    al Aithan, Bandar

    2012-01-01

    Congenital median upper lip fistula (MULF) is an extremely rare condition resulting from abnormal fusion of embryologic structures. We present a new case of congenital medial upper lip fistula located in the midline of the philtrum of a 6 year old girl. PMID:22953305

  16. [Genetics of congenital lipodystrophies].

    PubMed

    Buffet, A; Lombes, M; Caron, P

    2015-10-01

    Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms. On the contrary, LMNA and PPARG gene mutations are recovered in partial lipodystrophies forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, triglycerides synthesis and lysis or playing a major role in the lipid droplet formation. Congenital lipodystrophies treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review. PMID:26776286

  17. Congenital fiber type disproportion.

    PubMed

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  18. [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. PMID:19799481

  19. [Congenital multiple arthrogryposis].

    PubMed

    Parsch, Klaus; Pietrzak, Szymon

    2007-03-01

    From 1975 to 2004 a total of 38 children handicapped by congenital multiple arthrogryposis were cared for. The congenital joint contractures demand a major effort in terms of surgical reconstruction. In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-confident adults who can cope with life despite their handicaps. The hip in arthrogryposis shows variable forms of pathology, ranging from the almost normal hip to hip contractures with dislocation. Its treatment has some limited advantages, but hardly improves mobility. The knee contractures are actively treated to allow patients to sit, stand and walk better. The club foot and the rocker-bottom foot need sophisticated conservative and operative treatments. If conservative manipulation of bilateral extension contractures of the elbow fails operative treatment is carried out on the dominant side. For shoulder, hand and finger contractures conservative manipulation brings about little improvement, and surgical approaches help hardly at all. PMID:17323063

  20. 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

  1. [Enzymopathic congenital hyperlactacidemia].

    PubMed

    Leroux, J P; Marsac, C; Saudubray, J M

    1976-01-01

    Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin. PMID:184725

  2. Congenital longitudinal deficiency of the tibia.

    PubMed

    Spiegel, D A; Loder, R T; Crandall, R C

    2003-01-01

    We performed a clinical and radiographic review of 15 patients (19 limbs) with longitudinal deficiency of the tibia treated between 1981 and 2001. Ten limbs with Kalamchi type I deficiencies were managed by through-knee amputation. Five type II deficiencies were treated by foot ablation and tibiofibular synostosis, either at the same time or staged, but prosthetic problems may arise from varus alignment and prominence of the proximal fibula. Patients with type III deficiencies (four cases) were treated by foot ablation. Prosthetic problems relating to proximal or distal tibiofibular instability may necessitate additional surgical intervention. PMID:12879290

  3. 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.

  4. Congenital adrenal hyperplasia

    PubMed Central

    Dessinioti, Cleo; Katsambas, Andreas

    2009-01-01

    Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed. PMID:22523607

  5. Multicystic congenital mesoblastic nephroma.

    PubMed

    Drut, Ricardo

    2002-01-01

    This report describes an unusual example of congenital mesoblastic nephroma cellular variant that presented in a 1-week-old neonate as a multicystic tumor of the kidney. Extensive pseudocystic cavitation resulted from progressive accumulation of ground substance in a loosely myxoid tissue composed of stellate- and spindle-shaped cells that compressed and infiltrated renal tissue. The cells of the tumor were positive for vimentin and smooth muscle actin. The patient is alive and well 16 years after surgery. Differential diagnosis from segmental cystic dysplasia, cystic intralobar nephrogenic rest, cystic nephroma, cystic partially differentiated nephroblastoma, cystic nephroblastoma, and cystic clear cell sarcoma of the kidney, all of which may present at this age, is discussed. PMID:11927972

  6. 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

  7. Congenital vertical talus: a review.

    PubMed

    McKie, Janay; Radomisli, Timothy

    2010-01-01

    Congenital vertical talus, also known as congenital convex pes valgus, is an uncommon disorder of the foot, manifested as a rigid rocker-bottom flatfoot. Radiographically, it is defined by dorsal dislocation of the navicular on the talus. This condition requires surgical correction. If left untreated, this foot deformity results in a painful and rigid flatfoot with weak push-off power. This article provides an overview of this rare foot deformity, outlines appropriate workup of the disorder, and details current treatment options, with emphasis on the evolution of treatment of congenital vertical talus. PMID:19963176

  8. A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes

    PubMed Central

    Jones, Kelly L.; Schwarze, Ulrike; Adam, Margaret P.; Byers, Peter H.; Mefford, Heather C.

    2015-01-01

    Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker region that joins the core proteins to their glycosaminoglycan side chains. The enzyme glucuronyltransferase 1, encoded by B3GAT3, adds the last of the four saccharides that comprise the linker region. Mutations in B3GAT3 have been reported in two unrelated families with the same homozygous mutation (c.830G>A, p.Arg277Gln). We report a patient with a novel homozygous B3GAT3 (c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma. Our patient is a 12 month old boy born to consanguineous parents and, like previously reported patients, he has bilateral radio-ulnar synostosis, severe osteopenia, an increased gap between first and second toes, bilateral club feet, and atrial and ventricular septal defects. He also the additional features of bilateral glaucoma, hypertelorism, upturned nose with anteverted nares, a small chest, a diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, and perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas. We provide a clinical report to highlight the extended phenotypic range of B3GAT3 mutations and a comparative overview of the phenotypic features of the linkeropathies associated with mutations in XYLT1, B4GALT7, B3GALT6, and B3GAT3. PMID:26086840

  9. [Congenital lumbar hernia].

    PubMed

    Peláez Mata, D J; Alvarez Muñoz, V; Fernández Jiménez, I; García Crespo, J M; Teixidor de Otto, J L

    1998-07-01

    Hernias in the lumbar region are abdominal wall defects that appear in two possible locations: the superior lumbar triangle of Grynfelt-Lesshaft and the inferior lumbar triangle of Petit. There are 40 cases reported in the pediatric literature, and only 16 are considered congenital, associated with the lumbocostovertebral syndrome and/or meningomyelocele. A new case is presented. A premature newborn with a mass in the left flank that increases when the patient cries and reduces easily. The complementary studies confirm the diagnosis of lumbar hernia and reveal the presence of lumbocostovertebral syndrome associated. At the time of operation a well defined fascial defect at the superior lumbar triangle of Grynfelt-Lesshaft is primarily closed. The diagnosis of lumbar hernia is not difficult to establish but it is necessary the screening of the lumbocostovertebral syndrome. We recommend the surgical treatment before 12 months of age; the objective is to close the defect primarily or to use prosthetic material if necessary. PMID:12602034

  10. [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. PMID:26197921

  11. Congenital parotid fistula.

    PubMed

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient. PMID:25231049

  12. 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

  13. Congenital diaphragmatic hernia.

    PubMed

    Tovar, Juan A

    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

  14. Congenital Triangular Alopecia.

    PubMed

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  15. Congenital Rhabdomyosarcoma of Shoulder

    PubMed Central

    Khaleghnejad-Tabari, Ahmad; Mirshemirani, Alireza; Rouzrokh, Mohsen; Nariman, Shahin; Hassas-Yeganeh, Shaghayegh; Gharib, Atoosa; Khaleghnejad-Tabari, Nasibeh

    2012-01-01

    A 16-day-old female was referred with congenital swelling on her right shoulder. On examination, there was a hard, round, ecchymotic, nontender, slightly movable, warm and shiny 10x15 cm mass on the right axillary pits which was extended to the right side of neck and chest wall. The mass separated the shoulder from the chest wall causing paralysis of right hand. Chest X-ray, ultrasound and MRI with contrast demonstrated a soft tissue mass suspected to be a hemangioma. The mass rapidly increased in size despite aggressive steroid therapy with rupture and bleeding. On the 45th post natal day the baby was taken to operating room to control the bleeding and if possible total excision of the mass. The mass was separated easily from the surrounding tissue and was excised along with right upper extremity. At the end of surgery the baby had cardiac arrest, and apparently died of Disseminated Intravascular Coagulation (DIC). The final pathology report was Rhabdomyosarcoma (RMS). PMID:25628836

  16. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  17. 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. PMID:19603898

  18. Congenital Cytomegalovirus Infection: Audiologic Outcome

    PubMed Central

    Fowler, Karen B.

    2013-01-01

    The association between congenital cytomegalovirus (CMV) infection and sensorineural hearing loss (SNHL) was first described almost 50 years ago. Studies over the intervening decades have further described the relationship between congenital CMV infection and SNHL in children. However, congenital CMV infection remains a leading cause of SNHL in children in the United States and the world today. As more CMV infections are identified, it is important to recognize that infants who are born to seroimmune mothers are not completely protected from SNHL, although their hearing loss is often milder than that seen in CMV-infected infants following primary maternal infections. Late-onset and progressive hearing losses occur following congenital CMV infection, and CMV-infected infants should be evaluated regularly to provide for early detection of hearing loss and appropriate intervention. Fluctuating hearing loss that is not explained by concurrent middle ear infections is another characteristic of CMV-related hearing loss in children. Challenges still remain in predicting which children with congenital CMV infection will develop hearing loss and, among those who do develop loss, whether or not the loss will continue to deteriorate. PMID:24257423

  19. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered. PMID:26769614

  20. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  1. Common Tests for Congenital Heart Defects

    MedlinePlus

    ... Heart Defect - Fetal Circulation • Care & Treatment • 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: ...

  2. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  3. 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: ...

  4. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  5. Understand Your Risk for Congenital Heart Defects

    MedlinePlus

    ... health problems than their parents. Learn more about genetic counseling . Single gene: Rarely, congenital heart defects are caused ... of Congenital Heart Defects • Understand Your Risk Introduction Genetic Counseling • Symptoms & Diagnosis • Care & Treatment • Tools & Resources Related Sites ...

  6. 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.

  7. [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. PMID:20870582

  8. Paternal transmission of congenital myotonic dystrophy.

    PubMed Central

    Bergoffen, J; Kant, J; Sladky, J; McDonald-McGinn, D; Zackai, E H; Fischbeck, K H

    1994-01-01

    The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families. Images PMID:7966187

  9. Congenital granular-cell myoblastoma.

    PubMed

    Cussen, L J; MacMahon, R A

    1975-04-01

    The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis. PMID:164527

  10. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia. PMID:17650728

  11. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with β-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose β-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability). The prognosis of the

  12. Health in adults with congenital heart disease.

    PubMed

    Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. PMID:27451323

  13. Experimental model of congenital syphilis.

    PubMed Central

    Kajdacsy-Balla, A; Howeedy, A; Bagasra, O

    1993-01-01

    Female LSH hamsters infected with Treponema pallidum subsp, endemicum before pregnancy or during early pregnancy transmit a form of syphilis to the fetus that is similar to human congenital syphilis. The offspring develops rhinitis, skin rash, failure to thrive, and hepatosplenomegaly. T. pallidum is detectable in their livers, spleens, and nasal secretions. Immunoglobulin M antibodies are detected in the serum. Images PMID:8335390

  14. Congenital Chagas disease: an update

    PubMed Central

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-01-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi. PMID:25760448

  15. Evolutive leukoencephalopathy in congenital cytomegalovirus infection.

    PubMed

    Krakar, Goran; Đaković, Ivana; Delin, Sanja; Bošnjak, Vlatka Mejaški

    2015-01-01

    Congenital cytomegalovirus infection is the most common infectious cause of congenital brain injury. Type and severity of congenital cytomegalovirus infection-related brain abnormalities depend on the developmental stage of the central nervous system at the time of fetal infection. The aim of this study was to follow the course of leukoencephalopathy in a patient with congenital cytomegalovirus infection. We describe brain magnetic resonance imaging (MRI) findings of a boy with symptomatic congenital cytomegalovirus infection performed at the age of 3 weeks, 13 months, and 4 and 7 years. Neonatal brain MRI showed most of characteristic findings in congenital cytomegalovirus infection with most prominent white matter abnormalities and cortical dysplasia. MRI follow-up images showed that cortical dysgenesis remained unchanged and static, whereas white matter abnormalities evolved over the years. We propose that leukoencephalopathy in congenital cytomegalovirus infection is not only nonprogressive or static but even evolutive and suggests both underlying disruption and delay of myelination. PMID:24453153

  16. Coping with Congenital Hand Differences

    PubMed Central

    Franzblau, Lauren E.; Chung, Kevin C.; Carlozzi, Noelle; Chin, Autumn Y. T.; Nellans, Kate W.; Waljee, Jennifer F.

    2015-01-01

    Purpose Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children’s ability to cope with psychosocial effects of these conditions. We qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Methods Forty patients and their parents participated in semi-structured interviews examining stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. Results In this sample, 58% of children and 40% of parents reported stress related to congenital hand differences, attributed to functional deficits (61%), hand appearance (27%), social interactions (58%), and emotional reactions (46%). Among the 18 children who reported stress, 43% of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12%), self-acceptance (21%), avoidance (27%), seeking external support (30%), concealment (30%), educating others (9%), support programs (21%) and religion (24%). Conclusions Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem and self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress in order to direct resources toward strengthening coping strategies and support systems. Level of Evidence Level IV-Case series PMID:25502854

  17. 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.

  18. [Congenital myasthenic syndromes; French experience].

    PubMed

    Eymard, Bruno; Hantaï, Daniel; Fournier, Emmanuel; Nicole, Sophie; Sternberg, Damien; Richard, Pascale; Fardeau, Michel

    2014-02-01

    Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood In 2002 a national Congenital Myasthenic Syndromes Network was created in France, composed of neurologists, neuropediatricians, pathologists, molecular geneticists and neurobiologists. The network has now identified nearly 300 cases of CMS, as well as three new culprit genes. Based on our personal experience and data from the most recent studies, we describe the 18 principal culprit genes so far identified, along with diagnostic pitfalls, the disease course, prognosis and treatment. The underlying genetic defect remains to be identified in nearly half of CMS patients. PMID:26263703

  19. Surgical correction of congenital megaprepuce.

    PubMed

    Shenoy, M U; Rance, C H

    1999-01-01

    Congenital megaprepuce (CMP) is a rare entity. Two infant boys presented with a tight congenital phimosis resulting in an excessively baggy, urine-filled prepuce and a swollen scrotum. Compression of the scrotum resulted in drainage of urine. We feel this to be a separate entity from a buried penis and recommend early surgery. The phimotic tip of the foreskin was excised and the inner layer preserved to cover the full length of the penile shaft. The outer layer of the foreskin, in reality the penoscrotal junction, was anchored to the base of the penile shaft. A V-shaped edge of ventral skin was excised and the edges approximated, giving the appearance of median raphe. The final appearance was that of a circumcised penis. A third patient awaits operation. PMID:10631746

  20. [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. PMID:26115799

  1. Congenital Anomalies of the Nose.

    PubMed

    Funamura, Jamie L; Tollefson, Travis T

    2016-04-01

    Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryologic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant cosmetic and functional consequences. Congenital anomalies of the nose can be categorized into four broad categories: (1) aplastic or hypoplastic, (2) hyperplastic or duplications, (3) clefts, and (4) nasal masses. Our knowledge of the embryologic origin of these anomalies helps dictate subsequent work-up for associated conditions, and the appropriate treatment or surgical approach to manage newborns and children with these anomalies. PMID:27097134

  2. [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. PMID:16770600

  3. Are parenchymal AVMs congenital lesions?

    PubMed

    Morales-Valero, Saul F; Bortolotti, Carlo; Sturiale, Carmelo; Sturiale, Carmelo L; Lanzino, Giuseppe

    2014-09-01

    A long-held dogma in neurosurgery is that parenchymal arteriovenous malformations (AVMs) are congenital. However, there is no strong evidence supporting this theory. An increasing number of documented cases of de novo formation of parenchymal AVMs cast doubt on their congenital nature and suggest that indeed the majority of these lesions may form after birth. Further evidence suggesting the postnatal development of parenchymal AVMs comes from the exceedingly rare diagnosis of these lesions in utero despite the widespread availability of high-resolution imaging modalities such as ultrasound and fetal MRI. The exact mechanism of AVM formation has yet to be elucidated, but most likely involves genetic susceptibility and environmental triggering factors. In this review, the authors report 2 cases of de novo AVM formation and analyze the evidence suggesting that they represent an acquired condition. PMID:25175439

  4. Congenital scoliosis – Quo vadis?

    PubMed Central

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-01-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  5. Congenital malformations in diabetic offspring.

    PubMed

    Temesio, P; Belitzky, R; Gallego, L; Martell, M; Pose, S V

    1977-01-01

    A retrospective study of 215 deliveries in diabetic mothers at Hospital de Clínicas (Montevideo, Uruguay) has been performed. Presence of congenital malformations (CM) was considered in relation to age of the mothers, class of maternal diabetes, maternal angiopathy, treatment and metabolic control. The prevalence of CM in the series was 9.8%. None of the factors analyzed seems to be statistically linked to the prevalence of CM. PMID:613685

  6. 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

  7. Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review.

    PubMed

    Matar, Hosam E; Garg, Neeraj K

    2016-03-01

    We present a unique case of a congenital hereditary common peroneal nerve neuropathy with congenital idiopathic congenital talipes equinovarus that had been treated with the Ponseti method with satisfactory outcome at 5-year follow-up, along with a literature review. PMID:26588839

  8. Genetics Home Reference: congenital sucrase-isomaltase deficiency

    MedlinePlus

    ... and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after ... isomaltase deficiency, congenital Merck Manual for Healthcare Professionals: Carbohydrate ... Congenital sucrase-isomaltase deficiency The American ...

  9. 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. PMID:25497206

  10. 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

  11. Congenital duodenal obstruction: causes and imaging approach.

    PubMed

    Brinkley, Michael F; Tracy, Elisabeth T; Maxfield, Charles M

    2016-07-01

    Bilious emesis is a common cause for evaluation in pediatric radiology departments. There are several causes of congenital duodenal obstruction, most of which require elective surgical correction, but the potential of malrotation with midgut volvulus demands prompt imaging evaluation. We review the various causes of congenital duodenal obstruction with an emphasis on the approach to imaging evaluation and diagnosis. PMID:27324508

  12. Arrhythmias in Complex Congenital Heart Disease

    PubMed Central

    Hayward, Robert M.; Tseng, Zian H.

    2014-01-01

    Late after surgical repair of complex congenital heart disease, atrial arrhythmias are a major cause of morbidity, and ventricular arrhythmias and sudden cardiac death are a major cause of mortality. The six cases in this article highlight common challenges in the management of arrhythmias in the adult congenital heart disease population. PMID:25197326

  13. Cardiac Arrhythmias In Congenital Heart Diseases

    PubMed Central

    Khairy, Paul; Balaji, Seshadri

    2009-01-01

    Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy. PMID:19898654

  14. Optimum treatment of congenital cytomegalovirus infection.

    PubMed

    Leruez-Ville, Marianne; Ville, Yves

    2016-01-01

    Congenital cytomegalovirus infection affects 0.7% of live births and is the leading cause of congenital neurological handicaps of infectious origin. However, systematic screening of this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox has been justified by the unavailability of an efficient vaccine and by the scarcity of data available on the treatment of congenital CMV. However, in the last decade interesting new data on the management of this congenital infection has emerged including new results on both neonatal and postnatal treatments. This review provides an update on the potential benefits of antiviral treatment and on passive immunisation both in the neonatal and the antenatal periods. These suggest a benefit to a proactive approach for neonatal and prenatal congenital infections. PMID:27043943

  15. [Maternal imagination and congenital malformations].

    PubMed

    Van Heiningen, Teunis Willem

    2011-01-01

    Since antiquity philosophers and scientists tried to explain the cause of congenital malformations. In early modern medicine maternal imagination was largely accepted as their true cause, This concept was rejected by Blondel, a London physician. Around 1750 Wolff introduced the Hemmungsbildung as the cause of congenital malformations, a concept adopted in 1781 by Blumenbach. Later on Soemmerring (1784), Crichton (1785) and Meckel the younger adopted Blumenbach's concept. In 1824 Suringar further developed it. More and more the excessive development of fetal blood vessels or nerves was rejected as a possible cause, although from time to time these ideas were adopted again. In the early 1800s Etienne Geoffroy Saint-Hilaire (1811) and Vrolik (1817) developed a classification of monstra. These attempts urged Isidore Geoffroy Saint-Hilaire (Etienne's son) and Vrolik the younger (Gerard's son) to develop it further. Nevertheless, around 1840 Vrolik had to admit that although we are well acqainted with the various malformations, we are still ignorant of the primary cause of these phenomena. Meanwhile the dispute between the adherents of the theory of preformation and those who had adopted the concept of epigenesis exercised many minds. In the second half of the eighteenth century the latter theory became more and more adopted and this fact cleared the way for the ideas introduced by Wolff and Blumenbach, because it was consistent with the idea of a gradual development of fetal structures. PMID:22073754

  16. 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.

  17. Paternal transmission of congenital myotonic dystrophy.

    PubMed Central

    de Die-Smulders, C E; Smeets, H J; Loots, W; Anten, H B; Mirandolle, J F; Geraedts, J P; Höweler, C J

    1997-01-01

    We report a rare case of paternally transmitted congenital myotonic dystrophy (DM). The proband is a 23 year old, mentally retarded male who suffers severe muscular weakness. He presented with respiratory and feeding difficulties at birth. His two sibs suffer from childhood onset DM. Their late father had the adult type of DM, with onset around 30 years. Only six other cases of paternal transmission of congenital DM have been reported recently. We review the sex related effects on transmission of congenital DM. Decreased fertility of males with adult onset DM and contraction of the repeat upon male transmission contribute to the almost absent occurrence of paternal transmission of congenital DM. Also the fathers of the reported congenitally affected children showed, on average, shorter CTG repeat lengths and hence less severe clinical symptoms than the mothers of children with congenital DM. We conclude that paternal transmission of congenital DM is rare and preferentially occurs with onset of DM past 30 years in the father. Images PMID:9391889

  18. Critical congenital heart disease screening

    PubMed Central

    Chamsi-Pasha, Mohammed A.; Chamsi-Pasha, Hassan

    2016-01-01

    Critical congenital heart disease (CCHD) is a heart lesion for which neonates require early surgical intervention to survive. Without intervention, the rates of mortality and survival with significant disability are extremely high. Early diagnosis can potentially improve health outcomes in newborns with CCHD. Until recent years, no routine screening protocol existed. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. A positive screening test result warrants an echocardiogram to evaluate for CCHD. Newborn screens do not usually require parental consent. However, most of the states mandates in the United States include a statement allowing exemption from the screen on the basis of parental religious or personal beliefs. PMID:27390667

  19. HLA typing in congenital toxoplasmosis.

    PubMed Central

    Meenken, C; Rothova, A; de Waal, L P; van der Horst, A R; Mesman, B J; Kijlstra, A

    1995-01-01

    HLA-A, HLA-B, HLA-C, and HLA-D typing was performed in 47 mothers of patients suffering from ocular toxoplasmosis to investigate whether an immunogenetic predisposition exists for developing congenital toxoplasmosis in their offspring. No significant association between any HLA antigen was observed in the mothers of patients with ocular toxoplasmosis, although a total absence of the HLA-B51 antigen was found in this group. HLA-A, HLA-B, and HLA-C typing was also performed in their children (52 patients with ocular toxoplasmosis), to investigate a possible relation between the severity of ocular toxoplasmosis and an eventual immunogenetic factor. In the patients with ocular toxoplasmosis an increased frequency of the HLA-Bw62 antigen was observed in correlation with severe ocular involvement. PMID:7612565

  20. Critical congenital heart disease screening.

    PubMed

    Chamsi-Pasha, Mohammed A; Chamsi-Pasha, Hassan

    2016-01-01

    Critical congenital heart disease (CCHD) is a heart lesion for which neonates require early surgical intervention to survive. Without intervention, the rates of mortality and survival with significant disability are extremely high. Early diagnosis can potentially improve health outcomes in newborns with CCHD. Until recent years, no routine screening protocol existed. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. A positive screening test result warrants an echocardiogram to evaluate for CCHD. Newborn screens do not usually require parental consent. However, most of the states mandates in the United States include a statement allowing exemption from the screen on the basis of parental religious or personal beliefs. PMID:27390667

  1. Prenatal sonographic diagnosis of congenital varicella syndrome.

    PubMed

    Tongsong, Theera; Srisupundit, Kasemsri; Traisrisilp, Kuntharee

    2012-01-01

    Congenital varicella syndrome is a rare disorder occurring in less than 1% of maternal varicella during early pregnancy but is associated with high fetal morbidity and mortality. This case report aimed to describe the sonographic features of congenital varicella syndrome following maternal varicella. Well-documented maternal chicken pox was made at 12 weeks of gestation and prenatal ultrasound was performed at 16 weeks. Striking sonographic features included hydropic changes and disseminated calcifications in multiple organs, especially liver and myocardium. Elective termination of pregnancy was done at 17 weeks. The presence of disseminated calcifications could suggest the diagnosis of congenital varicella syndrome. PMID:22323269

  2. Ventricular Tachycardia in Congenital Pulmonary Stenosis.

    PubMed

    Ruckdeschel, Emily Sue; Schuller, Joseph; Nguyen, Duy Thai

    2016-03-01

    With modern surgical techniques, there is significantly increased life expectancy for those with congenital heart disease. Although congenital pulmonary valve stenosis is not as complex as tetralogy of Fallot, there are many similarities between the 2 lesions, such that patients with either of these conditions are at risk for ventricular arrhythmias and sudden cardiac death. Those patients who have undergone surgical palliation for congenital pulmonary stenosis are at an increased risk for development of ventricular arrhythmias and may benefit from a more aggressive evaluation for symptoms of palpitations or syncope. PMID:26920196

  3. Living with a Congenital Heart Defect

    MedlinePlus

    ... well the heart’s chambers and valves are working. Health Insurance and Employment Adults who have congenital heart defects ... carefully consider how changing jobs will affect their health insurance coverage. Some health plans have waiting periods or ...

  4. Congenital urethrocutaneous fistula in an adolescent male

    PubMed Central

    Kale, Satish M.; Mody, Nikunj B.; Patil, Surendra B.; Sadawarte, Pranam

    2015-01-01

    A urethrocutaneous fistula is a common complication after hypospadias repair, but congenital fistula is a rare anomaly. We present a 16-year-old boy with this unusual anomaly. Its etiology, embryology, and management are discussed in brief. PMID:26424989

  5. 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)

  6. Missed congenital hypothyroidism in an identical twin.

    PubMed

    Azam, Anita; Cutfield, Wayne; Mouat, Fran; Hofman, Paul L; Jefferies, Craig; Webster, Dianne; Gunn, Alistair Jan

    2012-10-01

    Newborn screening for congenital hypothyroidism has been remarkably effective, although rare cases of false negative screening have been reported in same sex twins, presumptively due to fetal blood exchange. We report a case in which the diagnosis of congenital hypothyroidism due to thyroid ectopia in a monozygotic twin was delayed by 8 months, with a normal newborn screening TSH level of 11 mIU/L blood (normal < 15 mIU/L) at 2 days of life. This is the first such case since the national New Zealand newborn screening programme introduced screening for congenital hypothyroidism in 1981 (30 years ago). Repeating thyroid studies at 14 days of age in same-sex twins has been advocated to avoid delayed diagnosis, but given the low risk, may not be cost effective. It is important to maintain a high index of suspicion in same-sex twin pregnancies of potential congenital hypothyroidism. PMID:22970836

  7. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    MedlinePlus

    ... and walking. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality ... cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to ...

  8. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an ... isoforms) of this enzyme are produced from the CYB5R3 gene. The soluble isoform is present only in ...

  9. Genetics Home Reference: congenital mirror movement disorder

    MedlinePlus

    ... throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. People with congenital ... movement. Normally, signals from each half of the brain control movements on the opposite side of the ...

  10. 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 ...

  11. Digenic mutations in severe congenital neutropenia

    PubMed Central

    Germeshausen, Manuela; Zeidler, Cornelia; Stuhrmann, Manfred; Lanciotti, Marina; Ballmaier, Matthias; Welte, Karl

    2010-01-01

    Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigenetic influences on the disease phenotype. We describe congenital neutropenia patients with mutations in two candidate genes each, including 6 novel mutations. Two of them had a heterozygous ELANE mutation combined with a homozygous mutation in G6PC3 or HAX1, respectively. The other 2 patients combined homozygous or compound heterozygous mutations in G6PC3 or HAX1 with a heterozygous mutation in the respective other gene. Our results suggest that digenicity may underlie this disorder of myelopoiesis at least in some congenital neutropenia patients. PMID:20220065

  12. 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

  13. Genetics Home Reference: congenital diaphragmatic hernia

    MedlinePlus

    ... Center: Congenital Diaphragmatic Hernia University of Michigan Health System These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: Diagnostic Tests Drug Therapy ...

  14. Genetics Home Reference: congenital generalized lipodystrophy

    MedlinePlus

    ... an abnormal heart rhythm (arrhythmia) that can cause sudden death. People with congenital generalized lipodystrophy have a distinctive ... stenosis), and severe arrhythmia that can lead to sudden death. Related Information What does it mean if a ...

  15. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan;43(1):77-86. ... Rand CM. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir ...

  16. METROPOLITAN ATLANTA CONGENITAL DEFECTS PROGRAM (MACDP)

    EPA Science Inventory

    The Metropolitan Atlanta Congenital Defects Program (MACDP) was established in 1967 by the Centers for Disease Control and Prevention with Emory University and the Georgia Mental Health Institute as the nation's first population-based active ascertainment birth defects surveillan...

  17. Genetics Home Reference: congenital myasthenic syndrome

    MedlinePlus

    ... Advocacy Resources (2 links) Muscular Dystrophy Association Myasthenia Gravis Foundation of America: Congenital Myasthenia GeneReviews (1 link) ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  18. The "harlequin" sign and congenital Horner's syndrome.

    PubMed Central

    Morrison, D A; Bibby, K; Woodruff, G

    1997-01-01

    When trying to establish the likely anatomical site (preganglionic or postganglionic) of a lesion causing congenital Horner's syndrome, the distribution of facial flushing (the "harlequin" sign), may be seen. In babies and young children, facial flushing is a relatively simple clinical sign to demonstrate, compared with facial sweating. In unilateral facial flushing the areas that do not flush are almost always identical to the anhidrotic areas. However, neither facial flushing nor testing the pupil reactions with pholedrine or hydroxyamphetamine can be relied on to predict the probable site of any lesion causing congenital Horner's syndrome. Two patients with congenital Horner's syndrome are presented which demonstrated the "harlequin" sign and in whom clinical examination and pharmacological testing gave conflicting evidence for localisation of the site of the causative lesion. The presentation of congenital Horner's syndrome should be investigated and include MRI or CT to exclude a serious underlying cause. Images PMID:9219751

  19. Congenital anomalies after assisted reproductive technology.

    PubMed

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie; Loft, Anne

    2013-02-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize the literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also be discussed. PMID:23290686

  20. 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. PMID:1290073

  1. Cutaneous mastocytosis associated with congenital alopecia.

    PubMed

    Kim, Cho Rok; Kim, Hyun-Je; Jung, Mi-Young; Lee, Jae-Hyung; Park, Ji-Hye; Lee, Dong-Youn; Lee, Joo-Heung; Yang, Jun-Mo

    2012-07-01

    Mastocytosis is a rare disorder that shows accumulation of mast cells in tissues. Atypical clinical features may mimic impetigo, Langerhans cell histiocytosis, and carcinoid syndrome; however, only 1 case of scarring alopecia associated with mastocytosis has been reported. We present the first case of cutaneous mastocytosis associated with congenital alopecia areata in a 3-year-old Korean girl. This case showed an atypical clinical presentation of congenital alopecia areata, but histopathological results confirmed the diagnosis of cutaneous mastocytosis. PMID:22356916

  2. 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

  3. An unusual presentation of congenital bronchoesophageal fistula.

    PubMed

    Atalabi, O M; Falade, A G; Obajimi, O M; Akinyinka, O O; Lagundoye, S B; Ibinaiye, P O

    2004-01-01

    We present the case of a 5-week-old neonate with multiple congenital abnormalities including a broncho-oesophageal fistula, which showed radiological features suggestive of congenital diaphragmatic hernia. Emergency limited barium swallow done was initially reported as a case of diaphragmatic hernia. Autopsy revealed pus within the right lung, and a fistulous connection between the oesophagus and an intralobar sequestrated lung. No diaphragmatic hernia or intra-abdominal organ abnormality were seen, and an occipital meningomyelocoele was also confirmed. PMID:15171538

  4. 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

  5. Approach to the diagnosis of congenital myopathies.

    PubMed

    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

    2014-02-01

    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

  6. [Congenital thoracic defects demonstrated by radiophotography].

    PubMed

    Jonescu, N; Ionescu, G C

    1991-01-01

    Costal congenital defects are malformations or anomalies of dimension, location or structure of the ribs, generated by disturbances of prenatal development. These anomalies appear in mesoderm which also gives rise to skeleton, muscles, serums, conjunctive tissues, circulatory system and urogenital apparatus. Of the 59,225 persons examined, 502 had costal congenital defects. The presence of azygos lobe (Wrisberg's lobe) in 158 cases (0.26%), of right aortic (arcs high dextroposition of cross) in 2 cases and (3%000) dextroposition of heart in 6 cases (10%000), out of which a situs inversus (complete cardiovascular transposition) were noticed as congenital defects with common origin in embryonic mesoderm. Medical radiophotography can be used as a method in detecting congenital costal defects. Other defects in other organs can be also detected. The congenital costal defects found in an rf examined population, representing a part of the total of congenital malformations, may be one of their indirect epidemiologic indices. Their existence may lead to the explanation of the symptomatology of the nervous compressive type on brachiocephalic vascular, etc. plexus. As some of the defects are an excess of osseous and cartilaginous matter, they may be used, when indicated, as autografts. PMID:1823198

  7. [Aftereffects of congenital infections in infants].

    PubMed

    Burdzenidze, E; Zhvania, M

    2006-12-01

    Congenital infections are among the most pressing health care problems. Congenital infections are not reason of congenital malformation and perinatal mortality only, but also pathologies that can be revealed during first year of life. Frequency for congenital viral infection displayed from birth varies between 23% and 92%. The aim of the study was the investigation of inherent infection consequences (citomegaloviral infection, herpes infection and chlamidia) in children in different age groups. Under our observation were 81 children with congenital infections. Among them 29 were with citomegaloviral infection, 17 with herpes infection; 15 chlamidia infection and 22 infections mix (citomegalovirus + herpes, citomegalovirus + chlamidia and chlamidia + herpes). In all observed children neurological simptomatic such as neuro-reflectory hyperexcitability syndrom, hypertension-hydrocephalic syndrom, musculary dystonia syndrom, hydrocephaly, retardation of psychomotor development etc. were present. After birth the worst prevalent are pathologies of cardiovascular system: functional cardiopathy, carditis, congenital heart disease (among them multivalvular disease), affection of hepatobilliar system, organs of vision and hearing etc are present also. PMID:17261890

  8. Functional Assessment for Congenital Heart Disease

    PubMed Central

    2014-01-01

    Significant improvement in survival of children with congenital cardiac malformations has resulted in an increasing population of adolescent and adult patients with congenital heart disease. Of the long-term cardiac problems, ventricular dysfunction remains an important issue of concern. Despite corrective or palliative repair of congenital heart lesions, the right ventricle, which may be the subpulmonary or systemic ventricular chamber, and the functional single ventricle are particularly vulnerable to functional impairment. Regular assessment of cardiac function constitutes an important aspect in the long-term follow up of patients with congenital heart disease. Echocardiography remains the most useful imaging modality for longitudinal monitoring of cardiac function. Conventional echocardiographic assessment has focused primarily on quantification of changes in ventricular size and blood flow velocities during the cardiac cycles. Advances in echocardiographic technologies including tissue Doppler imaging and speckle tracking echocardiography have enabled direct interrogation of myocardial deformation. In this review, the issues of ventricular dysfunction in congenital heart disease, conventional echocardiographic and novel myocardial deformation imaging techniques, and clinical applications of these techniques in the functional assessment of congenital heart disease are discussed. PMID:24653734

  9. Congenital Cystic Lesions of the Lung: Congenital Cystic Adenomatoid Malformation and Bronchopulmonary Sequestration

    PubMed Central

    Sfakianaki, Anna K; Copel, Joshua A

    2012-01-01

    Congenital cystic lesions of the lung in fetuses are rare. The most common malformations of the lower respiratory tract are congenital cystic adenomatoid malformation and bronchopulmonary sequestration. With the increased use of obstetric ultrasound, cystic lung lesions are detected more often antenatally, which allows for proper planning of peripartum and neonatal management. This article discusses a range of diagnostic and management options. PMID:22866187

  10. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    PubMed Central

    2012-01-01

    Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology. PMID:22731118

  11. Congenital neuroblastoma with placental involvement.

    PubMed

    Kume, Ayako; Morikawa, Teppei; Ogawa, Makiko; Yamashita, Aki; Yamaguchi, Shunichi; Fukayama, Masashi

    2014-01-01

    We describe an extremely rare case of congenital neuroblastoma with placental involvement. A fetus with a left abdominal mass detected during ultrasonography at 23 weeks' gestation developed hydrops fetalis by 26 weeks' gestation. The mother developed hypertension at 26 5/7 weeks' gestation. Based on a clinical diagnosis of pregnancy-induced hypertension, labor was induced at 26 6/7 weeks. However, intrauterine fetal death was diagnosed during delivery. Postmortern examination revealed a solid tumor at the site of the left adrenal gland. Histological examination of the tumor revealed dense proliferation of small round tumor cells with sparse cytoplasm and hyperchromatic nuclei. Some tumor-cell complexes contained abundant neurofibrils and Hormer-Wright rosettes were observed. A diagnosis of neuroblastoma of the left adrenal gland was made. The liver was markedly enlarged and was extensively replaced by neuroblastoma cells. In addition, small nests of tumor cells were detected in the blood vessels of various organs including the heart, lung, spleen, kidneys, stomach, small and large intestine, thyroid gland, testis, spinal cord, and bone marrow. Histological examination of the enlarged placenta revealed numerous neuroblastoma cells in the villous fetal capillary spaces. The present case was unusual in that the tumor cells were found not only in the chorionic villi, but also in the intervillous space of the maternal vascular system. However, there was no clinical evidence of maternal metastasis. PMID:25550872

  12. Clinical genetics of congenital hypothyroidism.

    PubMed

    Szinnai, Gabor

    2014-01-01

    Congenital hypothyroidism (CH) is a state of insufficient thyroid hormone supply to the organism, starting in utero. Two forms of permanent primary or thyroidal CH are known. Thyroid dysgenesis (TD) describes a spectrum of defects of thyroid organogenesis. Five monogenetic forms due to mutations in TSHR, PAX8, NKX2-1, FOXE1 and NKX2-5 have been identified so far. Thyroid dyshormonogenesis comprises defects at every step of thyroid hormone synthesis. Mutations in 7 genes are well described causing iodine transport defect (SLC5A5), iodine organification defect (TPO, DUOX2, DUOXA2, SLC26A4), thyroglobulin (TG) synthesis or transport defect or iodotyrosine deiodinase (IYD/DEHAL1) deficiency. The new consensus guidelines for CH recommend genetic counseling for each family with an affected child. Mode of inheritance, recurrence rate and possible associated malformations in the context of syndromic forms should be outlined. Molecular genetic studies should be preceded by a detailed phenotypic description of the patient's thyroid disease and a detailed family history. This review summarizes clinical, biochemical and radiological phenotypes and molecular aspects of the known genetic forms of TD and thyroid dyshormonogenesis relevant for genetic counseling and molecular studies. PMID:25231445

  13. Congenital Adrenal Hyperplasia: Unresolved Issues.

    PubMed

    Yau, Mabel; Khattab, Ahmed; Poppas, Dix; Ghizzoni, Lucia; New, Maria

    2016-01-01

    Congenital adrenal hyperplasia (CAH) describes a family of disorders that comes from enzymatic deficiencies in cortisol production, with 21-hydroxylase deficiency causing ∼90% of cases. Distinction is made between the severe classical form and milder nonclassical form of CAH. Molecular genetic analysis is used to confirm the hormonal diagnosis. A high rate of genotype-phenotype disconcordance has been found in 21-hydroxylase deficiency. The goal of treatment is to replace with synthetic glucocorticoids and mineralocorticoids and suppress adrenal androgen production. The treatment of patients affected with nonclassical CAH, particularly males, remains controversial. Variable synthetic glucocorticoids are used and new modes of glucocorticoid delivery are under investigation. To improve height, growth hormone and other adjuvant therapies are employed. Long-term outcomes of genital surgery using modern techniques in females affected with classical CAH continue to be investigated. Prenatal treatment with dexamethasone is available to avoid ambiguous genitalia in these females. Although studies have shown its safety to mother and fetus, prenatal treatment is still regarded as experimental. Currently, prenatal diagnosis of CAH can only be obtained through invasive methods. Recently, the detection of cell-free fetal DNA in maternal plasma has made it possible to make this diagnosis earlier and noninvasively. PMID:27211889

  14. Symptoms of autism among children with congenital deafblindness.

    PubMed

    Dammeyer, Jesper

    2014-05-01

    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. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism. PMID:24127166

  15. Congenital von Willebrand's disease and clinical hypothyroidism.

    PubMed

    Hassan, S; Qureshi, W; Donthireddy, V; Kuriakose, P

    2013-03-01

    Data from case reports and systematic reviews suggest an association of Hypothyroidism and Acquired von Willebrand's syndrome. It is not known if congenital von Willebrand's disease is associated with hypothyroidism in a similar way. The aim of this study was to identify the association of congenital von Willebrand's disease (VWD) with clinical hypothyroidism. A total of 350 cases of congenital VWD were initially screened from our institution database from 1985 to 2010. A careful review of patient records was carried out to see if patients truly had congenital VWD and coexisting clinical hypothyroidism. Patients with uncertain diagnoses or other bleeding disorders were excluded, leading to 197 patients remaining in the final sample. A random age- and sex-matched parallel control group was also obtained from the hospital database. Of 197 patients (mean age 43.8 ± 17.5 years, women 72%) of congenital VWD, 32/197 (16%) were diagnosed with clinical hypothyroidism, while only 11/197 (5.6%) of the matched controls were clinically hypothyroid. Univariate and multivariate analysis demonstrated that VWD was an independent predictor of developing clinical hypothyroidism (OR 3.45; 95% CI 1.65-7.22, P = 0.001). The proportion of patients diagnosed with clinical hypothyroidism was more in the VWD group (P < 0.0001). Our analysis shows a strong association of clinical hypothyroidism in patients with congenital VWD, but future studies will be required to delineate a pathological mechanism. In our opinion, clinicians should consider checking thyroid function in the newly diagnosed and established cases of congenital VWD. PMID:23171382

  16. 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

  17. Genetic Syndromes associated with Congenital Heart Disease

    PubMed Central

    2015-01-01

    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. PMID:26413101

  18. Congenital Scoliosis in Smith–Magenis Syndrome

    PubMed Central

    Li, Zheng; Shen, Jianxiong; Liang, Jinqian; Sheng, Lin

    2015-01-01

    Abstract The Smith–Magenis syndrome (SMS) is a complex and rare congenital condition that is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioral, and neurocognitive abnormalities, as well as variable multisystemic manifestations. Little is reported about spinal deformity associated with this syndrome. This study is to present a case of scoliosis occurring in the setting of SMS and explore the possible mechanisms between the 2 diseases. The patient is a 13-year-old Chinese female with congenital scoliosis and Tetralogy of Fallot, mental retardation, obstructive sleep apnea, hypertrophy of tonsil, conductive hearing loss, and agenesis of the epiglottis. An interphase fluorescent in situ hybridization at chromosome 17p11.2 revealed a heterozygous deletion, confirming a molecular diagnosis of SMS. She underwent a posterior correction at thoracic 1-lumbar 1 (T1-L1) levels, using the Moss-SI spinal system. At 6-month follow-up, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of correction. Congenital cardiac disease, immunodeficiency, and severe behavioral problems can affect the surgical outcome following spine fusion and need to be taken into consideration for the surgeon and anesthesiologist. Scoliosis is not uncommon among patients with SMS, and there is a potential association between congenital scoliosis and SMS. The potential mechanisms in the pathogenesis of congenital scoliosis of SMS included retinoic acid-induced 1 (RAI1) microdeletion and RAI1 gene point mutation. PMID:25929900

  19. 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. PMID:27191932

  20. 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

  1. 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

  2. Newborn screening for congenital hypothyroidism.

    PubMed

    Büyükgebiz, Atilla

    2006-11-01

    Most neonates born with congenital hypothyroidism (CH) have normal appearance and no detectable physical signs. Hypothyroidism in the newborn period is almost always overlooked and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Blood spot T4 or TSH or both can be used in neonatal screening for CH. The latter, which is more sensitive, is not cost effective, so the first two are used in different programs in the world. TSH screening was shown to be more specific in the diagnosis of CH; T4 screening is more sensitive in detecting newborns especially with rare hypothalamic-pituitary hypothyroidism, but less specific with a high frequency of false positives mainly in low birth weight and premature infants. The time at which the sample is taken may vary between centers, with the majority taking blood from a heel prick after 24 hours of age to minimize the false positive high TSH due to the physiological neonatal TSH surge that elevates TSH levels and causes dynamic T4 and T3 changes in the first 1 or 2 days after birth. Early discharge of mothers postpartum has increased the ratio of false positive TSH elevations. Although transient hypothyroidism may occur frequently, all suspected infants should be treated as having CH for the first 3 years of life, taking into account the risks of mental retardation. A reevaluation after 3 years is needed in such patients. The goal of initial therapy in CH is to minimize neonatal central nervous system exposure to hypothyroidism by normalizing thyroid function, as reflected by T4 and TSH levels, as rapidly as possible. Iodine deficiency is the most important cause of CH worldwide. Iodine is essential for thyroid hormone synthesis and is present in soil, water and air. Prevention of iodine deficiency can be by iodized salt, iodized oil, iodized bread or iodine tablets. PMID:17220056

  3. 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

  4. 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)

  5. Prenatal detection of congenital high airway obstruction syndrome with encephalocele

    PubMed Central

    Padmanabhan, Laxmi Devi; Nampoothiri, Sheela

    2016-01-01

    Congenital high airway obstruction syndrome (CHAOS) causes secondary morphological changes which can be detected on ultrasound. Here we report a case of congenital high airway obstruction with an occipital encephalocele detected at 23 weeks of gestation. PMID:27081227

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

    MedlinePlus

    ... stationary night blindness autosomal dominant congenital stationary night blindness Enable Javascript to view the expand/collapse boxes. ... Close All Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is ...

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

    MedlinePlus

    ... bile acid synthesis defect type 1 congenital bile acid synthesis defect type 1 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 1 is a disorder characterized ...

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

    MedlinePlus

    ... bile acid synthesis defect type 2 congenital bile acid synthesis defect type 2 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 2 is a disorder characterized ...

  9. 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

  10. Prenatal diagnosis of congenital mesoblastic nephroma.

    PubMed

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-09-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition. PMID:26430667

  11. Congenital myopathies: clinical and immunohistochemical study.

    PubMed

    Thaha, Fazil; Gayathri, N; Nalini, A

    2011-01-01

    Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40 patients with CMs. Centronuclear myopathy was the commonest (40%) followed by congenital fiber type disproportion (37.5%). Other less common CMs included: myotubular myopathy (5%), nemaline myopathy (5%), central core disease (5%), multicore disease (2.5%) and congenital myopathy with tubular aggregate (5%). Immunolabeling to desmin corresponded to morphological changes within the myofibers while vimentin was negative in all the patients. There is no combined role of these proteins in the disease process. PMID:22234203

  12. Congenital cholesteatoma: delayed diagnosis and its consequences.

    PubMed

    Goh, B S; Faizah, A R; Salina, H; Asma, A; Saim, L

    2010-09-01

    This is a retrospective review of congenital cholesteatoma cases that were managed surgically. There were 5 cases. The age of presentation ranged from 5 to 18 year old. Three patients presented with complication of the disease. Three patients had intact tympanic membrane, two had perforation at the anterior superior quadrant. All patients had cholesteatoma medial to tympanic membrane. Four cases had extensive ossicular erosion with preoperative hearing worse than 40 dB. Four cases underwent canal wall down mastoid surgery and one underwent canal wall up surgery. One patient had recurrence which required revision surgery. In conclusion, congenital cholesteatoma presented late due to the silent nature of disease in its early stage. Extensive disease, ossicular destruction with risk of complication at presentation were marked in our study. Hence, more aggressive surgical intervention is recommended in the management of congenital cholesteatoma. PMID:21939167

  13. 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

  14. 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. PMID:24138041

  15. 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. PMID:26471823

  16. 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. PMID:23623715

  17. 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.

  18. Congenital angiomyoma of the tongue: case report

    PubMed Central

    Kim, Y-H; Jang, Y-W; Pai, H; Kim, S-G

    2010-01-01

    Angiomyomas of the oral cavity are rare benign vascular neoplasms. In particular, the congenital form has not been reported before in the English language literature. We present a congenital angiomyoma of the tongue that was found on the posterior middle of the tongue in an infant. On MRI, the mass showed an isointense signal to muscle on the T1 weighted image and a slightly hyperintense signal on the T2 weighted image. Immunohistochemically, tumour cells were positive to desmin and smooth muscle actin, but negative to vimentin and S100. The treatment was surgical excision and no recurrence was found during the 26 month follow-up period. PMID:20841464

  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. PMID:22217490

  20. Pediatric congenital vertebral artery arteriovenous malformation.

    PubMed

    Shownkeen, Harish; Bova, Davide; Chenelle, Andrew G; Origitano, Thomas C

    2003-05-01

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. PMID:12695869

  1. 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. PMID:23909021

  2. Congenital nephrotic syndrome. Gallium-67 imaging

    SciTech Connect

    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-11-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented.

  3. Mediastinal bronchogenic cyst mimicking congenital lobar emphysema.

    PubMed

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

    2016-01-01

    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. PMID:27609589

  4. [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. PMID:26489825

  5. 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. PMID:27004363

  6. Congenital syphilis: subtle presentation of fulminant disease.

    PubMed

    Bennett, M L; Lynn, A W; Klein, L E; Balkowiec, K S

    1997-02-01

    The incidence of congenital syphilis has experienced a fourfold to fivefold increase in 6 years. It is a completely preventable disease whose clinical spectrum ranges from asymptomatic infection, to fulminant sepsis, to death. Congenital syphilis was diagnosed in a 6-week-old infant whose mother was negative for the disease by prenatal screen. The otherwise well child presented with a generalized, papulosquamous eruption of 3 weeks' duration but within hours multisystem failure developed from overwhelming treponemal sepsis. Factors related to increased incidence, problems in serodiagnosis, manifestations of the early versus late forms of the disease, and recommendations for evaluation and treatment are illustrated by this patient and are discussed. PMID:9039217

  7. Toward postnatal reversal of ocular congenital malformations

    PubMed Central

    Sahel, José-Alain; Marazova, Katia

    2013-01-01

    Aniridia is a panocular disorder that severely affects vision in early life. Most cases are caused by dominantly inherited mutations or deletions of the PAX6 gene, which encodes a transcription factor that is essential for the development of the eye and the central nervous system. In this issue of the JCI, Gregory-Evans and colleagues demonstrate that early postnatal topical administration of an ataluren-based formulation reverses congenital malformations in the postnatal mouse eye, providing evidence that manipulation of PAX6 after birth may lead to corrective tissue remodeling. These findings offer hope that ataluren administration could be a therapeutic paradigm applicable to some major congenital eye defects. PMID:24355915

  8. Pulmonary Hypertension and Congenital Heart Disease.

    PubMed

    Roth, Todd S; Aboulhosn, Jamil A

    2016-08-01

    Pulmonary arterial hypertension in congenital heart disease (PAH-CHD) is a frequent complication in adults with congenital heart disease. Regardless of etiology, the optimal treatment strategy for this difficult population is challenging. The new frontier of targeted PAH therapies has demonstrated improved functional capacity in the various phenotypes of PAH-CHD, with work currently in progress scrutinizing outcomes. In those who fail conventional medical therapy, heart and heart-lung (block) transplantation become the final therapeutic options, with the role of ventricular assist devices and the total artificial heart still under investigation in this group. PMID:27443136

  9. Canine congenital portosystemic shunts: Disconnections dissected.

    PubMed

    Van den Bossche, L; van Steenbeek, F G

    2016-05-01

    Canine congenital portosystemic shunts (CPSS) are vascular anomalies that connect the portal vein with the systemic circulation, therefore bypassing the hepatic parenchyma. Portosystemic shunts exist in two different subtypes: extrahepatic and intrahepatic. This congenital disorder is also described in mice, cat, sheep and man. Research has been focused on pathophysiology, diagnostics and treatment of CPSS and this has resulted in increased knowledge, although the aetiology of the disease remains unclear. This review focuses on the aetiology and genetic basis of both intra- and extrahepatic shunts. PMID:27061656

  10. 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

  11. 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.

  12. Acquired Congenital Malalignment of the Great Toenails.

    PubMed

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

    2016-02-01

    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

  13. 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.…

  14. 38 CFR 4.9 - Congenital or developmental defects.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Congenital or developmental defects. 4.9 Section 4.9 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS SCHEDULE FOR RATING DISABILITIES General Policy in Rating § 4.9 Congenital or developmental defects. Mere congenital or developmental defects,...

  15. Undiagnosed congenital hypothyroidism in a newborn treated with dopamine infusion.

    PubMed

    Shi, Xuanxing; Sun, Yueling; Qiang, Rong

    2015-06-01

    Medications administered during the neonatal period may mask the diagnosis of congenital hypothyroidism. Herein, we report a case of undiagnosed congenital hypothyroidism while the infant was on treatment with dopamine. Given the inhibitory effect of dopamine on thyroid-stimulating hormone, a high index of suspicion for potential congenital hypothyroidism is needed in such neonates. PMID:25724212

  16. 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)

  17. Genetics Home Reference: severe congenital neutropenia

    MedlinePlus

    ... Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, ... PubMed or Free article on PubMed Central Schäffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: ...

  18. Gastroesophageal reflux and congenital gastrointestinal malformations.

    PubMed

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    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

  19. NATIONAL CONGENITAL RUBELLA SYNDROME REGISTRY (NCRSR)

    EPA Science Inventory

    The system compiles information on all U.S. congenital rubella syndrome cases. The registry includes cases reported to CDC since 1969. Information collected includes demographic data, laboratory results, and disease symptoms. These data are used to calculate incidence rates and o...

  20. 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

  1. Congenital cardiac anomalies in an English bulldog.

    PubMed

    McConkey, Marina J

    2011-11-01

    A 4-year-old male castrated English bulldog was referred to the Atlantic Veterinary College for evaluation of exercise intolerance, multiple syncopal episodes, and a grade IV/VI heart murmur. The dog was shown to have 3 congenital cardiac anomalies: atrial septal defect, mitral valve dysplasia, and subaortic stenosis. Medical management consisted of exercise restriction, atenolol, pimobendan, and taurine. PMID:22547849

  2. Prevalence of congenital muscular dystrophy in Italy

    PubMed Central

    Graziano, Alessandra; Bianco, Flaviana; D'Amico, Adele; Moroni, Isabella; Messina, Sonia; Bruno, Claudio; Pegoraro, Elena; Mora, Marina; Astrea, Guja; Magri, Francesca; Comi, Giacomo P.; Berardinelli, Angela; Moggio, Maurizio; Morandi, Lucia; Pini, Antonella; Petillo, Roberta; Tasca, Giorgio; Monforte, Mauro; Minetti, Carlo; Mongini, Tiziana; Ricci, Enzo; Gorni, Ksenija; Battini, Roberta; Villanova, Marcello; Politano, Luisa; Gualandi, Francesca; Ferlini, Alessandra; Muntoni, Francesco; Santorelli, Filippo Maria; Bertini, Enrico; Pane, Marika

    2015-01-01

    Objective: We provide a nationwide population study of patients with congenital muscular dystrophy in Italy. Methods: Cases were ascertained from the databases in all the tertiary referral centers for pediatric neuromuscular disorders and from all the genetic diagnostic centers in which diagnostic tests for these forms are performed. Results: The study includes 336 patients with a point prevalence of 0.563 per 100,000. Mutations were identified in 220 of the 336 (65.5%). The cohort was subdivided into diagnostic categories based on the most recent classifications on congenital muscular dystrophies. The most common forms were those with α-dystroglycan glycosylation deficiency (40.18%) followed by those with laminin α2 deficiency (24.11%) and collagen VI deficiency (20.24%). The forms of congenital muscular dystrophy related to mutations in SEPN1 and LMNA were less frequent (6.25% and 5.95%, respectively). Conclusions: Our study provides for the first time comprehensive epidemiologic information and point prevalence figures for each of the major diagnostic categories on a large cohort of congenital muscular dystrophies. The study also reflects the diagnostic progress in this field with an accurate classification of the cases according to the most recent gene discoveries. PMID:25653289

  3. Congenital Tuberculosis Complicated by Hemophagocytic Lymphohistiocytosis.

    PubMed

    Osowicki, Joshua; Wang, Shiqi; McKenzie, Christopher; Marshall, Carolyn; Gard, Jye; Ke Juin, Wong; Steer, Andrew C; Connell, Tom G

    2016-01-01

    We present the case of a male infant with congenital tuberculosis in a nonendemic setting complicated by hemophagocytic lymphohistiocytosis, who was treated successfully with antituberculous therapy and corticosteroids. We review the pediatric literature concerning the unusual association of these 2 rare conditions. PMID:26398869

  4. Genetics of Nonsyndromic Congenital Hearing Loss.

    PubMed

    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

  5. 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…

  6. [Laparoscopic decapsulation of congenital splenic cyst].

    PubMed

    Visnjić, Stjepan; Zupancić, Bozidar; Car, Andrija; Roić, Goran

    2007-01-01

    Nonparasitic splenic cysts are uncommon and may be congenital or post-traumatic in origin. Complications may include enlargement with pain, rupture, and infection. The laparoscopy is widely accepted method in the treatment of this condition with numerous approaches. A technique of partial decapsulation-fenestration designed to minimize the risk of splenic loss and cyst recurrence is presented. PMID:18018710

  7. 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

  8. Genetics Home Reference: congenital neuronal ceroid lipofuscinosis

    MedlinePlus

    ... AE, Tyynelä J. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain. 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2. Citation on PubMed Steinfeld ... deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet. 2006 Jun; ...

  9. Asymptomatic Congenital Absence of Lateral Pedal Rays.

    PubMed

    Salvi, Andrea Emilio; Roda, Simone; Chessa, Angelo; Pezzoni, Massimo

    2016-01-01

    Complete absence of 1 or more pedal rays is a rare condition. In the present report, the case of an adult male with complete congenital absence of his right fourth and fifth pedal rays is described. The condition had been asymptomatic until he had sustained an acute third metatarsal fracture and was satisfactorily treated with cast immobilization. PMID:26359621

  10. 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

  11. Congenital toxoplasmosis and prenatal care state programs

    PubMed Central

    2014-01-01

    Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

  12. Airway tissue engineering for congenital laryngotracheal disease.

    PubMed

    Maughan, Elizabeth; Lesage, Flore; Butler, Colin R; Hynds, Robert E; Hewitt, Richard; Janes, Sam M; Deprest, Jan A; Coppi, Paolo De

    2016-06-01

    Regenerative medicine offers hope of a sustainable solution for severe airway disease by the creation of functional, immunocompatible organ replacements. When considering fetuses and newborns, there is a specific spectrum of airway pathologies that could benefit from cell therapy and tissue engineering applications. While hypoplastic lungs associated with congenital diaphragmatic hernia (CDH) could benefit from cellular based treatments aimed at ameliorating lung function, patients with upper airway obstruction could take advantage from a de novo tissue engineering approach. Moreover, the international acceptance of the EXIT procedure as a means of securing the precarious neonatal airway, together with the advent of fetal surgery as a method of heading off postnatal co-morbidities, offers the revolutionary possibility of extending the clinical indication for tissue-engineered airway transplantation to infants affected by diverse severe congenital laryngotracheal malformations. This article outlines the necessary basic components for regenerative medicine solutions in this potential clinical niche. PMID:27301606

  13. Congenital lobar emphysema: Pitfalls in diagnosis.

    PubMed

    Chinya, Abhishek; Pandey, Prince Raj; Sinha, Shandip Kumar; Sarin, Yogesh Kumar

    2016-01-01

    Congenital lobar emphysema (CLE) is a rare but life-threatening congenital anomaly leading to respiratory distress in early childhood. Diagnosis requires a strong clinical suspicion. We report a case of a 31/2-month-old infant who was initially diagnosed with pneumonia requiring multiple hospital admissions. After computed tomography of the thorax, a diagnosis on CLE was made. The child was planned for surgery in the next available routine operation theatre. However, suddenly in the evening, she developed respiratory distress and needed emergency surgical intervention. The child improved dramatically after surgery, and the postoperative period was uneventful. Early diagnosis and treatment in such cases can lead to dramatic results. PMID:27185998

  14. Minor congenital anomalies and ataxic cerebral palsy.

    PubMed Central

    Miller, G

    1989-01-01

    The incidence of minor congenital anomalies was examined in 36 patients with ataxic cerebral palsy, in unaffected family members, and in 100 unrelated control subjects. None of the control subjects or family members had more than four anomalies, and 25 of 36 (69%) of the patients had more than four. The distribution of anomalies differed considerably, with 60% of the index cases having seven or more, and 94% of the controls having three or less. The number occurring in the patients was significantly more than in their relatives. Of the 25 patients with more than four anomalies, 16 (64%) had undergone potentially adverse perinatal or early postnatal events. Thus minor congenital anomalies were considerably more frequent in those with ataxic cerebral palsy than in related or unrelated control subjects. These anomalies may be markers of early prenatal factors that contributed to the adverse outcome either directly or by predisposing to perinatal difficulties. PMID:2751330

  15. Congenital and hereditary visual impairment in Greenland.

    PubMed

    Rosenberg, T

    1994-04-01

    Thirty-eight cases of congenital visual impairment (CVI) were reported in the Inuit population of Greenland over a period of 40 years (1950-1989), corresponding to a frequency of 86 per 100,000 live born children. The two most common causes of blindness were optic atrophy and cerebral visual impairment due to brain disorders of various etiologies. This finding is in accordance with recently published data from the Nordic countries. On the other hand, retinopathy of prematurity and congenital cataract were rare causes of CVI in Greenland. Fifteen out of the 38 cases had unknown etiology. Genetic disorders accounted for 7/38 of the cases. A separate examination of registered cases with probable genetic visual impairment, irrespective of birth year, disclosed 25 patients. New mutations seemed to be the most reasonable explanation for isolated cases of aniridia, lens ectopia, and Down syndrome, while inbreeding was a possible contributory factor in a few autosomal recessive conditions. PMID:8018221

  16. Congenital Malalignment of the Great Toenail.

    PubMed

    Fierro-Arias, Leonel; Morales-Martínez, André; Zazueta-López, Rosa María; Ramírez-Dovala, Silvia; Bonifaz, Alexandro; Ponce-Olivera, Rosa María

    2015-01-01

    Congenital malalignment of the great toenail (CMA) is a disorder of the anatomic orientation of the ungual apparatus, in which the longitudinal axis of the nail plate is not parallel with the axis of the distal phalanx but is deflected sideways. This disorder is understood to arise from multiple factors. Although many theories have been proposed about its origin, its pathogenesis is not fully known. Besides the cosmetic impact, this disorder causes such problems in the medium and long term as onychocryptosis and difficulty in motion. Some cases may regress spontaneously, although persistent cases may require a specialized surgical approach. Congenital malalignment of the great toenail is poorly understood and described medical condition that is often treated incorrectly; thus, reviewing the subject is important. A symptombased clinical classification system is proposed to guide diagnosis and treatment modality decisions. PMID:26861519

  17. Giant Congenital Melanocytic Nevi and Neurocutaneous Melanosis

    PubMed Central

    Araújo, Catarina; Pardal, Francisco; Brito, Celeste

    2015-01-01

    Introduction. The major medical concern with giant congenital melanocytic nevi CMN is high risk of developing cutaneous melanoma, leptomeningeal melanoma, and neurocutaneous melanocytosis. Case Report. A 30-year-old woman with a giant congenital melanocytic nevus covering nearly the entire right thoracodorsal region and multiple disseminated melanocytic nevi presented with neurological symptoms. Cerebral magnetic resonance imaging revealed a large expansive lesion in the left frontal region. Postsurgically pathological diagnosis revealed characteristics of melanoma. Immunohistochemical examination showed S100(+), HMB45(+), MelanA(+), and MiTF(+). She received radiotherapy with temozolomide followed by two more chemotherapy cycles with temozolomide. She followed a rapidly progressive course, reflecting widespread leptomeningeal infiltration, and she died of multiorgan failure seven months after diagnosis of cerebral melanoma. Discussion. This patient was diagnosed as having a neurocutaneous melanosis with malignant widespread leptomeningeal infiltration. Diffuse spinal involvement is unusual and is described in only another patient. PMID:25722729

  18. Genetic Aspects of Congenital and Idiopathic Scoliosis

    PubMed Central

    Giampietro, Philip F.

    2012-01-01

    Congenital and idiopathic scoliosis represent disabling conditions of the spine. While congenital scoliosis (CS) is caused by morphogenic abnormalities in vertebral development, the cause(s) for idiopathic scoliosis is (are) likely to be varied, representing alterations in skeletal growth, neuromuscular imbalances, disturbances involving communication between the brain and spine, and others. Both conditions are characterized by phenotypic and genetic heterogeneities, which contribute to the difficulties in understanding their genetic basis that investigators face. Despite the differences between these two conditions there is observational and experimental evidence supporting common genetic mechanisms. This paper focuses on the clinical features of both CS and IS and highlights genetic and environmental factors which contribute to their occurrence. It is anticipated that emerging genetic technologies and improvements in phenotypic stratification of both conditions will facilitate improved understanding of the genetic basis for these conditions and enable targeted prevention and treatment strategies. PMID:24278672

  19. Pregnancy in women with congenital heart disease

    PubMed Central

    Sermer, Mathew; Silversides, Candice K

    2015-01-01

    Due to advances in paediatric congenital heart surgery, there are a growing number of women with congenital heart disease (CHD) reaching childbearing age. Pregnancy, however, is associated with haemodynamic stresses which can result in cardiac decompensation in women with CHD. Many women with CHD are aware of their cardiac condition prior to pregnancy, and preconception counselling is an important aspect of their care. Preconception counselling allows women to make informed pregnancy decisions, provides an opportunity for modifications of teratogenic medications and, when necessary, repair of cardiac lesions prior to pregnancy. Less commonly, the haemodynamic changes of pregnancy unmask a previously unrecognised heart lesion. In general, pregnancy outcomes are favourable for women with CHD, but there are some cardiac lesions that carry high risk for both the mother and the baby, and this group of women require care by an experienced multidisciplinary team. This review discusses preconception counselling including contraception, an approach to risk stratification and management recommendations in women with some common CHDs.

  20. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

    PubMed Central

    Engel, Andrew G.; Shen, Xin-Ming; Selcen, Duygu; Sine, Steven M.

    2015-01-01

    The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PREPL exerts its effect by activating adaptor protein 1. Finally, neuromuscular transmission is also impaired in some congenital myopathies. The specific diagnosis of some syndromes is facilitated by clinical clues pointing to a disease gene. In absence of such clues, exome sequencing is a useful tool for finding the disease gene. Deeper understanding of disease mechanisms come from structural and in vitro electrophysiologic studies of the patient endplate, and from engineering the mutant and wild-type gene into a suitable expression system that can be interrogated by appropriate electrophysiologic and biochemical studies. Most CMS are treatable. Importantly, however, some medication beneficial in one syndrome can be detrimental in another. PMID:25792100

  1. Congenital Nephrotic Syndrome – Finish Type

    PubMed Central

    Spahiu, Lidvana; Merovci, Besart; Jashari, Haki; Këpuska, Arbnore Batalli; Rugova, Blerta Elezi

    2016-01-01

    Introduction: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. Case report: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive. Genetic analysis revealed NHPS1 gene mutation leading to CNS-Finnish type diagnosis. Conclusion: Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases. PMID:27594755

  2. Congenital immature teratoma of the fetal brain.

    PubMed

    Rickert, C H; Probst-Cousin, S; Louwen, F; Feldt, B; Gullotta, F

    1997-10-01

    Congenital intracranial tumors are very rare and only account for 0.5-1.5% of all childhood brain tumors. Even rarer are those with prenatal manifestation. The most common of these present at birth are teratomas, which show divergent differentiation with 90% of them containing tissues from all three germ layers. We report a rare case of an intrauterine congenital immature teratoma in a female fetus at 23 weeks of gestation, which was sonographically diagnosed in vivo by detection of the tumor and associated craniomegaly. Because of the poor prognosis, termination of the pregnancy was induced by Rivanol instillation. The cerebral tumor was confirmed at autopsy and was not associated with any other malformations. Histological and immunohistochemical features of this tumor are presented. PMID:9403206

  3. Congenital diaphragmatic hernia in the older child.

    PubMed Central

    Booker, P D; Meerstadt, P W; Bush, G H

    1981-01-01

    Five children aged between 9 months and 7 years were admitted to hospital each with an unsuspected congenital diaphragmatic hernia. In 4 the diagnosis was pneumonia with a secondary pleural effusion or lung abscess. Initial investigations were unhelpful to the admitting physician; two of the children had had a previous chest x-ray which was normal. For 3 children the correct diagnosis was only made at necropsy. It is suggested that the possibility of a congenital diaphragmatic hernia be considered in any patient who has an indefinable diaphragm and cystic lesion on his chest x-ray film. Barium studies with the patient in Trendelenburg's position are of value in excluding the presence of bowel in the chest. Images Fig. 1 Fig. 2 PMID:7247437

  4. Congenital lobar emphysema: Pitfalls in diagnosis

    PubMed Central

    Chinya, Abhishek; Pandey, Prince Raj; Sinha, Shandip Kumar; Sarin, Yogesh Kumar

    2016-01-01

    Congenital lobar emphysema (CLE) is a rare but life-threatening congenital anomaly leading to respiratory distress in early childhood. Diagnosis requires a strong clinical suspicion. We report a case of a 31/2-month-old infant who was initially diagnosed with pneumonia requiring multiple hospital admissions. After computed tomography of the thorax, a diagnosis on CLE was made. The child was planned for surgery in the next available routine operation theatre. However, suddenly in the evening, she developed respiratory distress and needed emergency surgical intervention. The child improved dramatically after surgery, and the postoperative period was uneventful. Early diagnosis and treatment in such cases can lead to dramatic results. PMID:27185998

  5. Orbital expansion of the congenitally anophthalmic socket.

    PubMed Central

    Tucker, S M; Sapp, N; Collin, R

    1995-01-01

    BACKGROUND--Congenital anophthalmos is a rare condition in which intervention at an early age can stimulate orbital expansion and maximise facial symmetry. Much is still unknown, however, regarding the degree of soft tissue and bony orbital growth achieved using the orbital expanders presently available. METHODS--A retrospective review of 59 congenitally anophthalmic orbits in 42 patients was carried out. RESULTS--The soft tissue and bony orbital expansion achieved using serial solid shapes is reported, and experience with hydrophilic expanders and inflatable silicone expanders is reviewed. CONCLUSION--Although serially fitted solid shapes in the orbit lead to increased expansion of orbital soft tissue and bone compared with no orbital implant, further orbital tissue enlargement is required. The inflatable silicone expander may allow more rapid and extensive orbital tissue expansion, but design changes are needed to achieve this. PMID:7662633

  6. Congenital Cataracts and their Molecular Genetics

    PubMed Central

    Hejtmancik, J. Fielding

    2008-01-01

    Cataract can be defined as any opacity of the crystalline lens. Congenital cataract is particularly serious because it has the potential for inhibiting visual development, resulting in permanent blindness. Inherited cataracts represent a major contribution to congenital cataracts, especially in developed countries. While cataract represents a common end stage of mutations in a potentially large number of genes acting through varied mechanisms in practice most inherited cataracts have been associated with a subgroup of genes encoding proteins of particular importance for the maintenance of lens transparency and homeostasis. The increasing availability of more detailed information about these proteins and their functions and is making it possible to understand the pathophysiology of cataracts and the biology of the lens in general. PMID:18035564

  7. Congenital amusia in childhood: a case study.

    PubMed

    Lebrun, Marie-Andrée; Moreau, Patricia; McNally-Gagnon, Andréane; Mignault Goulet, Geneviève; Peretz, Isabelle

    2012-06-01

    Here we describe the first documented case of congenital amusia in childhood. AS is a 10-year-old girl who was referred to us by her choir director for persisting difficulties in singing. We tested her with the child version of the Montreal Battery for the Evaluation of Amusia (MBEA) which confirmed AS's severe problems with melodic and rhythmic discrimination and memory for melodies. The disorder appears to be limited to music since her audiometry as well as her intellectual and language skills are normal. Furthermore, the musical disorder is associated to a severe deficit in detecting small pitch changes. The electrical brain responses point to an anomaly in the early stages of auditory processing, such as reflected by an abnormal mismatch negativity (MMN) response to small pitch changes. In singing, AS makes more pitch than time errors. Thus, despite frequent and regular musical practice, AS's profile is similar to the adult form of congenital amusia. PMID:21453912

  8. Congenital malaria in a European country

    PubMed Central

    Prior, Ana Rita; Prata, Filipa; Mouzinho, Ana; Marques, José Gonçalo

    2012-01-01

    A newborn of 26 days, born in Lisbon, Portugal, presented with fever, anaemia and thrombocytopaenia. She was admitted considering neonatal sepsis, but Plasmodium vivax was identified in the second peripheral blood smear performed. Parenteral quinine was started with good evolution. Despite clinicians’ unfamiliarity with congenital malaria in non-endemic areas, this diagnosis, although rare, should not be forgotten in the evaluation of newborns/infants born to women from endemic areas or with recent trip to these areas. PMID:23234823

  9. Congenital anorectal abnormalities in six dogs.

    PubMed

    Prassinos, N N; Papazoglou, L G; Adamama-Moraitou, K K; Galatos, A D; Gouletsou, P; Rallis, T S

    2003-07-19

    Congenital anorectal abnormalities were diagnosed in three male and three female dogs. One dog had anal stenosis, three had a persistent anal membrane, and the other two had an imperforate anus associated with a rectovaginal fistula. Five of the dogs were treated surgically, and four of them which were followed up for periods ranging from one to five years continued to pass faeces normally. PMID:12892267

  10. Acardiac anceps: a rare congenital anomaly

    PubMed Central

    Nigam, Aruna; Agarwal, Rohini; Saxena, Pikee; Barla, Jaya

    2014-01-01

    Acardiac twin is a rare congenital anomaly and is exclusively associated with monochorionic twin pregnancies. The abnormalities occur due to abnormal communication between the two fetuses in the form of arterioarterial and venovenous communications, resulting in a grossly abnormal acardiac twin with reduction anomalies mainly of the upper body and gross oedema. Since no two acardiac twins are alike, this case report will add to the acardiac twin anomaly spectrum. PMID:24717594

  11. Management of complications of congenital hand disorders.

    PubMed

    Comer, Garet C; Ladd, Amy L

    2015-05-01

    This article reviews treatment and presents complications seen in the treatment of 7 common congenital hand differences, including syndactyly, camptodactyly, ulnar and radial polydactyly, thumb hypoplasia, radial longitudinal deficiency, and epidermolysis bullosa. The management of these conditions is challenging but has evolved over the last several decades with refined understanding of the disease processes and treatments. The goal of this article is to synthesize prior knowledge and provide further insights into these conditions that will help the surgeon avoid treatment complications. PMID:25934210

  12. Gene therapy in monogenic congenital myopathies.

    PubMed

    Guan, Xuan; Goddard, Melissa A; Mack, David L; Childers, Martin K

    2016-04-15

    Current treatment options for patients with monogenetic congenital myopathies (MCM) ameliorate the symptoms of the disorder without resolving the underlying cause. However, gene therapies are being developed where the mutated or deficient gene target is replaced. Preclinical findings in animal models appear promising, as illustrated by gene replacement for X-linked myotubular myopathy (XLMTM) in canine and murine models. Prospective applications and approaches to gene replacement therapy, using these disorders as examples, are discussed in this review. PMID:26454198

  13. Congenital Diarrheal Disorders: An Updated Diagnostic Approach

    PubMed Central

    Terrin, Gianluca; Tomaiuolo, Rossella; Passariello, Annalisa; Elce, Ausilia; Amato, Felice; Di Costanzo, Margherita; Castaldo, Giuseppe; Canani, Roberto Berni

    2012-01-01

    Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up. PMID:22605972

  14. Severe congenital malaria acquired in utero.

    PubMed

    Poespoprodjo, Jeanne R; Hasanuddin, Afdal; Fobia, Wendelina; Sugiarto, Paulus; Kenangalem, Enny; Lampah, Daniel A; Tjitra, Emiliana; Price, Ric N; Anstey, Nicholas M

    2010-04-01

    Vertical transmission of Plasmodium falciparum is under-recognized and usually associated with asymptomatic low-level parasitemia at birth. We report symptomatic congenital malaria presenting as a neonatal sepsis syndrome. The presence at birth of a high asexual parasitemia, gametocytemia, and splenomegaly indicated in utero rather than intrapartum transmission. The neonate was successfully treated with intravenous artesunate followed by oral dihydroartemisinin-piperaquine, without apparent adverse effects. PMID:20348499

  15. Severe Congenital Malaria Acquired in utero

    PubMed Central

    Poespoprodjo, Jeanne R.; Hasanuddin, Afdal; Fobia, Wendelina; Sugiarto, Paulus; Kenangalem, Enny; Lampah, Daniel A.; Tjitra, Emiliana; Price, Ric N.; Anstey, Nicholas M.

    2010-01-01

    Vertical transmission of Plasmodium falciparum is under-recognized and usually associated with asymptomatic low-level parasitemia at birth. We report symptomatic congenital malaria presenting as a neonatal sepsis syndrome. The presence at birth of a high asexual parasitemia, gametocytemia, and splenomegaly indicated in utero rather than intrapartum transmission. The neonate was successfully treated with intravenous artesunate followed by oral dihydroartemisinin-piperaquine, without apparent adverse effects. PMID:20348499

  16. Trypanosoma cruzi congenital transmission in wild bats.

    PubMed

    Añez, Néstor; Crisante, Gladys; Soriano, Pascual J

    2009-01-01

    Trypanosoma cruzi congenital transmission in wild bats (Molossus molossus), associated with infected Rhodnius prolixus in a natural habitat from a rural locality in western Venezuela, is reported. T. cruzi blood circulating trypomastigotes in a pregnant bat were detected by parasitological methods. Polymerase chain reaction (PCR) assays carried out in samples from the heart and the fetus of the same infected female, revealed the presence of T. cruzi-specific DNA in both of the tissues, demonstrating transmission of the infection from the mother to the offspring. Eighty percent of the captured bats and 100% of the examined fetuses from pregnant specimens were shown to be infected by T. cruzi, indicating that M. molossus is a very susceptible species for this parasite, and that T. cruzi congenital transmission is a common phenomenon in nature. To our knowledge, this seems to be the first report on congenital T. cruzi transmission in wild bats in Venezuela. The circulation of T. cruzi lineage I in the study area was demonstrated by typing the isolates from bats and triatomine bugs captured in the same habitat. The potential epidemiological implication of these findings in areas where Chagas disease is endemic is discussed. PMID:18823929

  17. Polycystic Ovaries Associated with Congenital Adrenal Hyperplasia

    PubMed Central

    Lucis, O. J.; Hobkirk, R.; Hollenberg, C. H.; MacDonald, S. A.; Blahey, P.

    1966-01-01

    Polycystic ovaries were found in a 16-year-old female with congenital absence of vagina, male-like external genitalia, and congenital adrenal hyperplasia. Masculinization was sufficiently severe to cause the patient to be reared as a male. Biochemical studies of ovarian tissue revealed hyperactivity and an imbalance of enzyme systems concerned with steroid-hormone biosynthesis, which led to production of large amounts of androgens. The pathway towards estrogens was preserved but less efficient than normal. Urinary steroid metabolites before and after hysterectomy and bilateral salpingo-oophorectomy revealed an absence of Porter-Silber chromogens and tetrahydrocortisone. Excretion of aldosterone was normal and that of corticosterone slightly higher than normal. The patterns of urinary 17-ketosteroids, pregnanediol, pregnanetriol and pregnanetriolone were similar to those commonly seen in congenital adrenal hyperplasia with steroid 21-hydroxylase deficiency. Urinary estrogens after panhysterectomy were low, being in the post-menopausal range. The pathogenesis of polycystic ovaries and their possible contribution to masculinization are discussed. ImagesFig. 1Fig. 2Fig. 3 PMID:5901591

  18. Anesthetic management of congenital epulis in neonate

    PubMed Central

    Krishna, Rohith; Shenoy, Thrivikram; Nataraj, Madagondapalli Srinivasan

    2012-01-01

    The most common cause of difficult intubation in pediatrics is due to congenital anomalies of airway. We report a case of neonate with congenital epulis (CE) who presented with a difficult airway. A 7-day old neonate weighted 3.2 kg with a large mass occupying the oral cavity that was diagnosed as congenital epulis was scheduled for excision biopsy. The mass was large, mobile, and moving in and out with no clear pedicle. An intravenous line was inserted and secured. The airway was then assessed while the patient was awake and an assistant displaced the mass and a laryngoscope was placed to visualize the larynx easily. After preoxygenation, inhalation induction of anesthesia was accomplished using sevoflurane in oxygen. Endotracheal intubation was performed with conventional laryngoscopy. The baby made uneventful recovery after the surgical procedure. In conclusion, epulis presents a real challenge to anesthesiologists. It can be excised either under local or general anesthesia, depending on the size of its pedicle. If done under general anesthesia, assessment of the airway is mandatory for better airway management and safe endotracheal intubation. PMID:25885516

  19. Bone conduction hearing in congenital aural atresia.

    PubMed

    Zhang, Lichun; Gao, Na; Yin, Yanbo; Yang, Lin; Xie, Youzhou; Chen, Ying; Dai, Peidong; Zhang, Tianyu

    2016-07-01

    Previous researches focusing on BC hearing mechanisms proved that the two routes, (1) EAC sound radiation and (2) inertial of ossicular chain, partially contribute to normal BC hearing. Therefore, the BC hearing for those patients with congenital aural atresia should partially decrease theoretically due to their abnormal anatomy. However, there are not many studies which mention these patients' BC hearing up till now. The objective of this study is to investigate congenital aural atresia patient's BC hearing by analysis of pre-surgical audiogram and to study their potential BC hearing mechanisms using animal modeling and their ABR measurements. The study methoed involves analyzing 75 patients' pre-operative audiogram. Then we produced an animal model by surgery to measure their BC hearing threshold changes. Clinical data showed that those patients had some BC hearing loss; and there were 25 cases (25/75, 33.3 %) which present with typical Carhart's Notch. The animal experiments proved that inertia of ossicular chain contribute to partial BC hearing, which demonstrated that the inertia produced more affects on high frequencies by comparing with low frequencies. The patients with congenital aural atresia present BC hearing loss, which could be mainly ascribed to the absence of inertia of ossicular chain. PMID:26205153

  20. Congenital urinary tract obstruction: the long view.

    PubMed

    Chevalier, Robert L

    2015-07-01

    Maldevelopment of the collecting system resulting in urinary tract obstruction (UTO) is the leading identifiable cause of CKD in children. Specific etiologies are unknown; most cases are suspected by discovering hydronephrosis on prenatal ultrasonography. Congenital UTO can reduce nephron number and cause bladder dysfunction, which contribute to ongoing injury. Severe UTO can impair kidney growth in utero, and animal models of unilateral ureteral obstruction show that ischemia and oxidative stress cause proximal tubular cell death, with later development of interstitial fibrosis. Congenital obstructive nephropathy, therefore, results from combined developmental and obstructive kidney injury. Because of inadequacy of available biomarkers, criteria for surgical correction of upper tract obstruction are poorly established. Lower tract obstruction requires fetal or immediate postnatal intervention, and the rate of progression of CKD is highly variable. New biomarkers based on proteomics and determination of glomerular number by magnetic resonance imaging should improve future care. Angiotensin inhibitors have not been effective in slowing progression, although avoidance of nephrotoxins and timely treatment of hypertension are important. Because congenital UTO begins in fetal life, smooth transfer of care from perinatologist to pediatric and adult urology and nephrology teams should optimize quality of life and ultimate outcomes for these patients. PMID:26088076

  1. Congenital Urinary Tract Obstruction: The Long View

    PubMed Central

    Chevalier, Robert L.

    2015-01-01

    Maldevelopment of the collecting system resulting in urinary tract obstruction (UTO) is the leading identifiable cause of CKD in children. Specific etiologies are unknown; most cases are suspected by discovering hydronephrosis on prenatal ultrasonography. Congenital UTO can reduce nephron number and cause bladder dysfunction, which contribute to ongoing injury. Severe UTO can impair kidney growth in utero, and animal models of unilateral ureteral obstruction show that ischemia and oxidative stress cause proximal tubular cell death, with later development of interstitial fibrosis. Congenital obstructive nephropathy therefore results from combined developmental and obstructive renal injury. Due to inadequacy of available biomarkers, criteria for surgical correction of upper tract obstruction are poorly established. Lower tract obstruction requires fetal or immediate postnatal intervention, and the rate of progression of CKD is highly variable. New biomarkers based on proteomics and determination of glomerular number by MRI should improve future care. Angiotensin inhibitors have not been effective in slowing progression, although avoidance of nephrotoxins and timely treatment of hypertension are important. Because congenital UTO begins in fetal life, smooth transfer of care from perinatologist to pediatric and adult urology and nephrology teams should optimize quality of life and ultimate outcomes for these patients. PMID:26088076

  2. Two Cases of Malleostapedotomy in Congenital Oval Window Atresia

    PubMed Central

    Ahn, Sang Hyeon; Kim, Da Hee; Choi, Jae Young

    2013-01-01

    Congenital anomaly of the oval window with an abnormal facial nerve course is an uncommon embryological defect, which is related to the underdevelopment of second branchial arch derivatives. Some treatments for improving hearing levels are available; these include hearing aids, vestibulotomy, neo-oval window formation, and stapes surgeries, including incudostapedotomy and malleostapedotomy. However, surgery for congenital anomalies of the oval window has rarely been described, usually in very small series of patients. We describe two cases of congenital anomalies of the oval window with aberrant facial nerve courses. One was a 40-year-old male diagnosed with unilateral congenital oval window atresia; the other was a 10-year-old male diagnosed with bilateral congenital oval window atresia. We also describe the clinical manifestations and treatment outcomes of malleostapedotomy for congenital anomalies of the oval window with aberrant facial nerve courses. PMID:24653925

  3. Congenital labial mucocele: rare presentation of a common disease.

    PubMed

    Silva, Igor Henrique; Cardoso, Samantha; Carvalho, Camila Nunes; Carvalho, Alessandra Albuquerque Tavares; Leão, Jair Carneiro; Gueiros, Luiz Alcino

    2016-01-01

    Oral mucoceles are common lesions characterized by accumulation of mucus following rupture of a minor salivary gland duct. However, congenital mucoceles are a rare and distinctive oral condition observed in newborns. This case report details the features of a congenital labial nodule diagnosed as congenital mucocele. These lesions are rare in the oral cavity and should be diagnosed in the delivery room, but many cases are referred for further evaluation. Management is simple, and recurrence is not expected. PMID:26943092

  4. Follicular atrophoderma in association with congenital pseudarthrosis of the tibia.

    PubMed Central

    Perkins, W; Webb, D W; White, J E

    1995-01-01

    Follicular atrophoderma has always been associated with other congenital malformations including, Conradi-Hünermann syndrome, Bazex's syndrome and keratosis palmaris et plantaris dissipata. Congenital pseudarthrosis of the tibia has usually been associated with neurofibromatosis. We report a case of follicular atrophoderma in association with congenital pseudarthrosis of the tibia: a previously unreported association with, in our case, a good outcome for the pseudarthrosis. Images Figure 1 Figure 2 PMID:7636827

  5. Isolated Partial Congenital Absence of the Pericardium: A Familial Presentation.

    PubMed

    Palau, Patricia; Domínguez, Eloy; García-González, Pilar; Gallego, Jorge; Bosch, María José; Sieso, Eduardo

    2016-08-01

    Congenital defects of the pericardium are uncommon heart abnormalities. Most of the patients are asymptomatic and are usually diagnosed incidentally. Complications are more common in partial absence than in complete absence of the pericardium; thus, this congenital defect should be identified because of the associated risk of sudden death. We report the first mention in the literature, to our knowledge, of a 3-generation familial presentation of isolated congenital partial absence of the pericardium with similar physical examination and radiological findings. PMID:26774230

  6. Congenital Rubella Syndrome with Blueberry Muffin Lesions and Extensive Metaphysitis

    PubMed Central

    Nangia, Sushma; Dubey, Bhavna Sharma

    2014-01-01

    We report a case of Congenital Rubella Syndrome (CRS) in a newborn. The baby had blueberry muffin skin lesions, long bone metaphysitis and congenital heart defects. With this case report we would like to highlight the existence of congenital rubella syndrome in the community, prompt the clinicians to make a diagnosis of CRS in children with suggestive clinical signs, and to create awareness against this vaccine- preventable disease and consideration to include MMR vaccination in nation immunization schedule. PMID:25654000

  7. Congenital rubella syndrome with blueberry muffin lesions and extensive metaphysitis.

    PubMed

    Ajij, Mohemmed; Nangia, Sushma; Dubey, Bhavna Sharma

    2014-12-01

    We report a case of Congenital Rubella Syndrome (CRS) in a newborn. The baby had blueberry muffin skin lesions, long bone metaphysitis and congenital heart defects. With this case report we would like to highlight the existence of congenital rubella syndrome in the community, prompt the clinicians to make a diagnosis of CRS in children with suggestive clinical signs, and to create awareness against this vaccine- preventable disease and consideration to include MMR vaccination in nation immunization schedule. PMID:25654000

  8. Etiology of reduced visual acuity in congenital nystagmus.

    PubMed

    Spierer, A

    1991-10-01

    A study was undertaken to identify the etiologic factor of reduced visual acuity in congenital nystagmus. Fourteen children with congenital nystagmus and reduced visual acuity were examined, using a modified "E" game test. Their success rate in identifying vertical lines was compared with their success rate in identifying horizontal lines. The children identified both vertical and horizontal lines with a similar rate of success. These results may indicate that poor vision in congenital nystagmus patients is partly the result of amblyopia. PMID:1755616

  9. [Congenital dislocation of the knee: report of 2 cases].

    PubMed

    Ochoa Gómez, L; Sánchez Gimeno, J; García Barrecheguren, E; Marulanda Del Valle, K; Almonte Adón, K; Guerrero Laleona, C

    2015-01-01

    Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome. PMID:24767460

  10. Congenital cytomegalovirus: implications for maternal-child nursing.

    PubMed

    Alex, Marion Rita

    2014-01-01

    Congenital cytomegalovirus (CMV) is a leading infectious cause of neurodevelopmental disorders in children. Despite its prevalence and devastating consequences, there is limited public and professional awareness about it. This practice-focused article presents two stories describing the family experience of congenital CMV; a literature review describing incidence and epidemiology of congenital CMV; sequelae including infection; the extent of public awareness about congenital CMV; and risk reduction approaches. Implications for maternal-child nurses, whose work uniquely situates them with populations of childbearing women, are discussed. PMID:24201241

  11. Prevalence of congenitally missing permanent teeth in Iran

    PubMed Central

    Sheikhi, Mahnaz; Sadeghi, Mohammad Ali; Ghorbanizadeh, Sajad

    2012-01-01

    Background: Hypodontia or congenitally missing teeth is among dental anomalies with different prevalence in each region. The aim of this study was to evaluate the prevalence of congenitally missing permanent teeth in Iranian population. Materials and Methods: A descriptive, retrospective and cross-sectional study was done. Panoramic radiographs of 2422 Iranian patients (1539 girls and 883 boys), 7-25 years old, were collected. The radiographs were studied for evidence of congenitally missing teeth. Data were analyzed using Paired t-test, Mann-Whitney test, Fisher exact test and Chi-square test (α = 0.05). Results: Prevalence of congenitally missing teeth was totally 45.7% and 34.8% for third molars. The most frequent congenitally missing teeth was mandibular second premolars (23.34%) followed by maxillary second premolars (22.02%). Upper jaw showed significantly higher number of congenitally missing teeth (P value < 0.001). According to Chi-square test, congenital missing teeth was found approximately 10.9% in both females and males and there were no statistically significant difference between sexes (P = 0.19). Conclusion: The prevalence of congenitally missing teeth (CMT) in Iranian permanent dentition was 10.9%. The most common congenitally missing teeth were mandibular second premolar fallowed by maxillary second premolars. PMID:23814548

  12. Differential Protein Expression in Congenital and Acquired Cholesteatomas

    PubMed Central

    Kim, Sung Huhn; Choi, Jae Young

    2015-01-01

    Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D) electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS) to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5–3), plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5–3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5–3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins may differ

  13. Identifying Gaps in Technology for Congenital Interventions: Analysis of a Needs Survey from Congenital Interventional Cardiologists.

    PubMed

    Shibbani, Kamel; Kenny, Damien; McElhinney, Doff; Hijazi, Ziyad M; Moran, Tim

    2016-06-01

    We carried out a device-needs survey to evaluate the gaps in device and equipment availability for congenital interventional cardiologists. As the complexity and demand for more complete solutions to congenital heart lesions increase, there is a growing need for modification and development of devices and equipment to support this endeavor. The survey was sent out via e-mail to members of the Congenital Cardiovascular Interventional Study Consortium and the Society for Cardiac Angiography and Interventions with a reach of over 350 congenital interventionalists. Responses were received from 68 cardiologists in 8 countries. In terms of the most desired device, 41 % ranked bioresorbable stents as their first choice from a list of 12 possible devices. Similarly, 23 % ranked large covered stents as their first choice. Twenty-seven percent of participants believed bioresorbable stents would have the greatest potential to improve morbidity of their patients, with another 27 % reporting that covered stents would have the greatest impact. Fifty percent of participants reported that they would like to see large covered stents available in their country. These data point toward a perceived need for the development/approval of bioresorbable stents for the pediatric age group, as well as the need to approve the use of large covered stents in the pediatric age group in the USA. PMID:27064094

  14. Enhanced heat discrimination in congenital blindness.

    PubMed

    Slimani, Hocine; Ptito, Maurice; Kupers, Ron

    2015-04-15

    There is substantial evidence that congenitally blind individuals perform better than normally sighted controls in a variety of auditory, tactile and olfactory discrimination tasks. However, little is known about the capacity of blind individuals to make fine discriminatory judgments in the thermal domain. We therefore compared the capacity to detect small temperature increases in innocuous heat in a group of 12 congenitally blind and 12 age and sex-matched normally sighted participants. In addition, we also tested for group differences in the effects of spatial summation on temperature discrimination. Thermal stimuli were delivered with either a 2.56 or 9 cm(2) Peltier-based thermode. We applied for 5-8s lasting non-painful thermal stimuli to the forearm and asked participants to detect small increments in temperature (ΔT = 0.4, 0.8, 1.2 or 1.6°C) that occurred at random time intervals. Blank trials (ΔT = 0°C) were also included to test for false positive responses. We used signal detection theory model to analyze the data. Our data revealed that blind participants have a higher accuracy than the sighted (d': Blind=2.4 ± 1.0, Sighted=1.8 ± 0.7, p=0.025), regardless of the size of the stimulated skin surface or magnitude of the temperature shift. Increasing the size of the stimulated skin area increased the response criterion in the blind (p=0.022) but not in the sighted. Together, these findings show that congenitally blind individuals have enhanced temperature discrimination accuracy and are more susceptible to spatial summation of heat. PMID:25639543

  15. Intelligence Quotient (IQ) in Congenital Strabismus*

    PubMed Central

    Bagheri, Abbas; Fallahi, Mohammad Reza; Tamannaifard, Shima; Vajebmonfared, Sara; Zonozian, Saideh

    2013-01-01

    Purpose To evaluate intelligence quotient (IQ) in patients with congenital strabismus. Methods All patients with congenital strabismus scheduled for surgery were enrolled consecutively over a one year period in a cross-sectional study and were evaluated for verbal, performance and total IQ scores, and compared to the mean normal IQ of 100±15. Results During the study period, 109 patients with mean age of 18.4±10.5 (range, 4-63) years were included. Educational status in most patients (80%) was less than high-school. Most patients (80%) lived in urban areas and 46 patients (42.2%) had some degrees of unilateral or bilateral amblyopia. Mean verbal IQ was 87.2±19.6 (range, 45-127), performance IQ was 81±15.5 (range, 44-111) and total IQ was 83.5±18.3 (range, 40-120). Total IQ was significantly lower in comparison to the normal population (P<0.01) and significantly higher in urban as compared to rural residents (85.1±19.5 versus 77.3±10.8 respectively, P=0.02). Patients with coexisting amblyopia and alternate deviation had lower IQ levels. Verbal IQ was insignificantly higher in myopes than emmetropes and hyperopes. IQ was better with vertical deviations and was higher in esotropes than exotropes; however, these differences were not statistically significant (P>0.05 for all comparisons). Conclusion Patients with congenital strabismus in this study had lower mean IQ scores than the normal population which may be due to genetic background or acquired causes secondary to strabismus. PMID:23943689

  16. Current concepts in congenital portosystemic shunts.

    PubMed

    Mankin, Kelley M Thieman

    2015-05-01

    Congenital portosystemic shunts (CPSS) are vascular abnormalities that allow portal blood to bypass the liver and join systemic circulation. Laboratory and imaging studies are performed preoperatively to diagnose CPSS and hopefully identify an anatomic location of the shunt. CPSS can be found in different locations in both small and large breed dogs. Most CPSS are best managed surgically. The goal of surgical management of CPSS is to slowly redirect blood from the shunting vessel through the portal vasculature while avoiding portal hypertension. Many surgical management methods are available, including open and less invasive procedures, such as laparoscopy and embolization. PMID:25737000

  17. Impaired memory for pitch in congenital amusia.

    PubMed

    Gosselin, Nathalie; Jolicoeur, Pierre; Peretz, Isabelle

    2009-07-01

    We examined memory for pitch in congenital amusia in two tasks. In one task, we varied the pitch distance between the target and comparison tone from 4 to 9 semitones and inserted either a silence or 6 interpolated tones between the tones to be compared. In a second task, we manipulated the number of pitches to be retained in sequences of length 1, 3, or 5. Amusics' sensitivity to pitch distance was exacerbated by the presence of interpolated tones, and amusics' performance was more strongly affected by the number of pitches to maintain in memory than controls. A pitch perception deficit could not account for the pitch memory deficit of amusics. PMID:19673791

  18. Congenital lobar emphysema: diagnostic and therapeutic challenges.

    PubMed

    Mulvany, James Jackson; Weatherall, Andrew; Charlton, Amanda; Selvadurai, Hiran

    2016-01-01

    Congenital lobar emphysema (CLE), a rare condition that usually presents in the neonatal period, can be a diagnostic and therapeutic challenge for the treating clinician. If unrecognised, it is a significant risk at the time of anaesthetic induction. We describe a case of CLE in a 3-month-old boy who was initially treated for suspected aspiration pneumonia at the referring hospital. We highlight the importance of careful consideration of common childhood respiratory illness as well as pneumothorax in the differential diagnosis, and the significance of appropriate preoperative anaesthetic management. We also emphasise the importance of acknowledging a mother's concerns when taking a paediatric history. PMID:27335360

  19. Congenital Transmission of Multidrug-Resistant Tuberculosis

    PubMed Central

    Espiritu, Nora; Aguirre, Lino; Jave, Oswaldo; Sanchez, Luis; Kirwan, Daniela E.; Gilman, Robert H.

    2014-01-01

    This article presents a case of multidrug-resistant tuberculosis (TB) in a Peruvian infant. His mother was diagnosed with disseminated TB, and treatment commenced 11 days postpartum. The infant was diagnosed with TB after 40 days and died at 2 months and 2 days of age. Congenital transmission of TB to the infant was suspected, because direct postpartum transmission was considered unlikely; also, thorough screening of contacts for TB was negative. Spoligotyping confirmed that both mother and baby were infected with identical strains of the Beijing family (SIT1). PMID:24821847

  20. Adrenal steroidogenesis and congenital adrenal hyperplasia.

    PubMed

    Turcu, Adina F; Auchus, Richard J

    2015-06-01

    Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal-recessive enzymatic defects in cortisol biosynthesis. 21-Hydroxylase (21OHD) deficiency accounts for more than 90% of CAH cases and, when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. PMID:26038201

  1. Haemostatic defects in cyanotic congenital heart disease.

    PubMed Central

    Henriksson, P; Värendh, G; Lundström, N R

    1979-01-01

    An investigation of defects of the haemostatic mechanism in 41 children with cyanotic congenital heart disease concluded that such abnormalities were common and normally involved factors synthesised in the liver, that is the vitamin K dependent factors (rothrombin, factors VII and IX) and factor V. No evidence was found of activation of the coagulation or fibrinolytic systems. The defects can be explained by deficient synthesis resulting from systemic hypoxia as well as from sluggishness of the local microcirculation caused by high blood viscosity. Vitamin K parenterally had no demonstrable effect. Replacement of these factors, possibly combined with measures to improve the microcirculation, therefore, appears to be the appropriate treatment. PMID:426953

  2. Congenital bilateral perisylvian syndrome: a case study.

    PubMed

    Donders, Jacobus; Mullarkey, Sr Kathryn; Allchin, Joel

    2009-02-01

    We report the case of a 14-year-old boy with bilateral congenital perisylvian syndrome as evidenced by polymicrogyria in the left and right frontotemporal regions, pseudobulbar paresis, seizures, and spastic diplegia. This is the first description of comprehensive neuropsychological assessment in a child with this syndrome. The results reflect significant impairments in auditory processing and independent learning and retention, but relatively preserved cognitive performance on interactive tasks involving frequent feedback and redirection. The findings are interpreted in the context of the neuropathology of this syndrome, with an emphasis on pragmatic implications for rehabilitation. PMID:18618376

  3. Genetic causes of congenital diaphragmatic hernia

    PubMed Central

    Wynn, Julia; Yu, Lan; Chung, Wendy K.

    2014-01-01

    Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics. PMID:25447988

  4. Genetic aspects of human congenital diaphragmatic hernia

    PubMed Central

    Pober, BR

    2010-01-01

    Congenital diaphragmatic hernia (CDH) is a common major malformation affecting 1/3000–1/4000 births, which continues to be associated with significant perinatal mortality. Much current research is focused on elucidating the genetics and pathophysiology contributing to CDH to develop more effective therapies. The latest data suggest that many cases of CDH are genetically determined and also indicate that CDH is etiologically heterogeneous. The present review will provide a brief summary of diaphragm development and model organism work most relevant to human CDH and will primarily describe important human phenotypes associated with CDH and also provide recommendations for diagnostic evaluation of a fetus or infant with CDH. PMID:18510546

  5. Screening for Critical Congenital Heart Disease.

    PubMed

    Oster, Matthew E; Kochilas, Lazaros

    2016-03-01

    Screening for critical congenital heart disease (CCHD) was added to the United States Recommended Uniform Screening Panel in 2011. Since that time, CCHD screening with pulse oximetry has become nearly universal for newborns born in the United States. There are various algorithms in use. Although the goal of the screening program is to identify children who may have CCHD, most newborns who have a low oxygen saturation will not have CCHD. Further study is needed to determine optimal guidelines for CCHD screening in special settings such as the neonatal intensive care unit, areas in high altitude, and home births. PMID:26876122

  6. Congenital erythropoietic porphyria in three siblings.

    PubMed

    Bari, Arfan Ul

    2007-01-01

    Congenital erythropoietic porphyria is a rare autosomal recessive disorder that usually presents with marked skin photosensitivity, hypertrichosis, blistering, scarring, milia formation and dyspigmentation of the photo-exposed areas. Three adult siblings (two sisters and one brother) are presented here with variable degree of skin manifestations. During early childhood, all the siblings started showing signs of photosensitivity with darkening of urine color followed by skin blistering over the face and hands. The oldest showed severe sclerodermiform mutilation and the youngest exhibited an initial involvement with hypertrichosis. None of them had any history of convulsions, acute abdominal pain or joint pain. Woods lamp examination and laboratory investigations confirmed the diagnosis. PMID:17921617

  7. [Congenital neck mass. Diagnosis and treatment].

    PubMed

    Muñoz-Proto, F; Sarría-Echegaray, P; Epprecht-González, M P; Alba-Mesquida, J

    2016-01-01

    Congenital neck masses are a challenge for general practitioners and specialists. Although some of them are diagnosed in utero, most of them remain silent until complications appear in the adult age. The anatomical location, consistency and age are determinants in guiding the possible diagnosis. A midline infrahyoid mass may be a thyroglossal cyst, however a lateral neck mass is more possible to result in a brachial cyst. Complementary imaging studies are essential such as pathological tests like needle aspiration fine needle aspiration (FNA). PMID:26558520

  8. Congenital bilateral eversion of the eyelids.

    PubMed

    Isawumi, Michaeline A; Adeoti, Caroline O; Umar, Ismaila O; Oluwatimilehin, Ilesanmi O; Raji, Ralph A

    2008-01-01

    The authors report a case of congenital bilateral eversion of the eyelids with secondary conjunctival prolapse in a 4-hour-old neonate. Conservative treatment with hypertonic normal saline, lubricants, antibiotics, and padding was instituted. No surgery was performed. Complete eye opening was achieved by the 10th day after birth. Medical management is advantageous in that it is inexpensive, noninvasive, and can be performed even in a center with poor surgical facilities, as is commonly encountered in developing countries. The sociopsychological aspect of the disease, possible pathophysiology, and treatment are discussed. PMID:19043951

  9. Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    PubMed

    Yau, Mabel; Khattab, Ahmed; New, Maria I

    2016-06-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. PMID:27241964

  10. Congenital Heart Disease and Primary Ciliary Dyskinesia.

    PubMed

    Harrison, Mike John; Shapiro, Adam J; Kennedy, Marcus Peter

    2016-03-01

    Through the better understanding of the genetics and clinical associations of Primary Ciliary Dyskinesia (PCD), an autosomal recessive disorder of ciliary motility and mucociliary clearance, the association between PCD and heterotaxic congenital heart disease (CHD) has been established. In parallel, research into the cause of CHD has elucidated further the role of ciliary function on the development of normal cardiovascular structure. Increased awareness by clinicians regarding this elevated risk of PCD in patients with CHD will allow for more comprehensive screening and identification of cases in this high-risk group with earlier diagnosis leading to improved health outcomes. PMID:26545972

  11. Primary congenital pulmonary hypoplasia of a neonate.

    PubMed

    Hsu, Jui-Sheng; Lee, Yu-Sheng; Lin, Chin-Hsuan; Li, Fen-Yau; Jeng, Mei-Jy; Soong, Wen-Jue; Chen, Sue-Jen; Tang, Ren-Bin

    2012-02-01

    Pulmonary hypoplasia is a rare but usually lethal disease. We report a full-term male neonate who presented with respiratory failure immediately after birth. Chest X-ray revealed a small lung volume despite advanced ventilator support. Respiratory failure persisted and this baby died at 40.5 hours of age. The autopsy showed a lung-to-birth weight ratio of 0.69% and a radial alveoli count of 2.97. All this information confirmed the diagnosis of primary congenital pulmonary hypoplasia. PMID:22340744

  12. Congenital Malformations Leading to Paradoxical Embolism.

    PubMed

    Bruckheimer, Elchanan

    2016-05-01

    The absolute separation of the right and left circulations and the filtration of blood by the pulmonary circulation are essential to prevent the passage of thrombotic material from the venous system into the systemic arterial circulation. Any breach of the intracardiac septae or circumvention of the pulmonary capillary network may cause a paradoxical embolus. The most common causes are atrial septal defects and pulmonary arteriovenous malformations. This article discusses unusual connections and pathways related to congenital malformations. Although anticoagulation is necessary to prevent paradoxical emboli, the hematologic disturbances and the most appropriate therapy in these patients warrant further investigation. PMID:27150173

  13. Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

    PubMed Central

    Turcu, Adina F.; Auchus, Richard J.

    2015-01-01

    Synopsis Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids, glucocorticoids and adrenal androgens occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive enzymatic defects in cortisol biosynthesis. 21-hydroxylase (21OHD) deficiency accounts for over 90% of CAH cases and when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. This review discusses in detail the epidemiology, genetics, diagnostic, clinical aspects and management of 21OHD. PMID:26038201

  14. Atrial Macroreentry in Congenital Heart Disease

    PubMed Central

    Twomey, Darragh J; Sanders, Prashanthan; Roberts-Thomson, Kurt C

    2015-01-01

    Macroreentrant atrial tachycardia is a common complication following surgery for congenital heart disease (CHD), and is often highly symptomatic with potentially significant hamodynamic consequences. Medical management is often unsuccessful, requiring the use of invasive procedures. Cavotricuspid isthmus dependent flutter is the most common circuit but atypical circuits also exist, involving sites of surgical intervention or areas of scar related to abnormal hemodynamics. Ablation can be technically challenging, due to complex anatomy, and difficulty with catheter stability. A thorough assessment of the pa-tients status and pre-catheter ablation planning is critical to successfully managing these patients. PMID:25308809

  15. Reconstruction of Congenital Defects of the Vagina

    PubMed Central

    Eldor, Liron; Friedman, Jeffrey D.

    2011-01-01

    Congenital absence of the vagina is a relatively rare condition most commonly associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Historically, several reconstructive techniques have been described to provide for functional vaginal reconstruction on these patients, both operative and nonoperative. Although there are many advantages and disadvantages of the various procedures, one experience with the use of split thickness skin grafts to reconstruct the vagina has produced acceptable functional results with limited donor site morbidity. Careful planning and timing of this form of reconstruction can produce predictable results in patients who are nearing sexual maturity. PMID:22547971

  16. CONGENITAL ERYTHROPOIETIC PORPHYRIA: TWO CASE REPORTS

    PubMed Central

    Koley, Sankha; Saoji, Vikrant

    2011-01-01

    Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not see a case during his professional life. We present two cases of CEP. One child with CEP presented with typical infancy-onset blistering, photosensitivity, red urine, and erythrodontia, with hypertrichosis of the upper arms and back. The other child of CEP presented with childhood-onset blistering, mutilation, and hypertrichosis on the face. PMID:21572804

  17. Autism in a Child with Congenital Cytomegalovirus Infection.

    ERIC Educational Resources Information Center

    Markowitz, Phillip I.

    1983-01-01

    A case study is described in which early infantile autism was diagnosed in a child with congenital cytomegalovirus (CMU) infection. It is suggested that congenital infection should be considered as an etiological agent in autism. The case's synergistic effect of CMU-induced brain damage, deafness, and maternal deprivation in noted. (CL)

  18. Triangular congenital cataract morphology associated with prenatal methamphetamine exposure.

    PubMed

    Clarke, Michael E; Schloff, Susan; Bothun, Erick D

    2009-08-01

    Bilateral congenital cataracts are often characterized by morphology, etiology, and related conditions. We report a case of unique congenital cataracts with triangular morphology and associated prenatal methamphetamine exposure. Although this association is likely coincidental, the cataract's morphology in light of the specific timing of prenatal drug use deserves reporting. PMID:19464935

  19. Congenital nasal pyriform aperture stenosis associated with central diabetes insipidus.

    PubMed

    Godil, M A; Galvin-Parton, P; Monte, D; Zerah, M; Purandare, A; Lane, A H; Wilson, T A

    2000-08-01

    We describe a child who has central diabetes insipidus associated with congenital nasal pyriform aperture stenosis without any apparent anterior pituitary dysfunction. This association further strengthens the concept that congenital nasal pyriform aperture stenosis may be a microform of holoprosencephaly. PMID:10931423

  20. 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. PMID:15575850

  1. Congenital nystagmus cosegregating with a balanced 7;15 translocation.

    PubMed Central

    Patton, M A; Jeffery, S; Lee, N; Hogg, C

    1993-01-01

    We report a family in which autosomal dominant congenital nystagmus cosegregates with a balanced 7;15 translocation. Ophthalmic investigation showed predominantly horizontal nystagmus with a small rotatory component and no significant loss of visual function. This finding suggests a possible localisation for autosomal dominant congenital nystagmus (McKusick 164100). Images PMID:8326501

  2. Congenital heart surgery in Houston. The early years.

    PubMed Central

    Takach, T J; Ott, D A

    1997-01-01

    During the 1950s and 1960s, major advances in medicine significantly influenced the development and application of surgery as treatment for congenital heart disease. The Texas Medical Center in Houston was at the forefront of these pioneering efforts and thus played an important role in the development of the art and science of congenital heart surgery. Images PMID:9339518

  3. Neurotized Congenital Melanocytic Nevus Resembling a Pigmented Neurofibroma

    PubMed Central

    Singh, Nidhi; Chandrashekar, Laxmisha; Kar, Rakhee; Sylvia, Mary Theresa; Thappa, Devinder Mohan

    2015-01-01

    Neurotized congenital melanocytic nevus and pigmented neurofibroma (PNF) are close mimics and pose a clinicopathological challenge. We present a case of pigmented hypertrichotic plaque over lumbosacral region and discuss the differential diagnosis and its clinical, histopathological and immunohistochemistry features which may aid in differentiation. We highlight the difficulties faced in differentiating neurotized congenital melanocytic nevus from pigmented neurofibroma. PMID:25657396

  4. What Are the Treatments for Congenital Adrenal Hyperplasia (CAH)?

    MedlinePlus

    ... for congenital adrenal hyperplasia (CAH)? Skip sharing on social media links Share this: Page Content Treatments for CAH ... pepubs/cah.pdf (PDF - 751 KB) [top] Screening, Technology and Research in Genetics ... Endocrine Society. (2010). Congenital adrenal hyperplasia due to steroid 21- ...

  5. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    PubMed Central

    Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups. PMID:27114761

  6. Mental and Behavioral Disorders among People with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2011-01-01

    The population of people with congenital deafblindness faces challenges concerning communication and mobility. Due to the significance of the sensory loss it is difficult to diagnose mental and behavioral disorders. This article investigates the prevalence of mental and behavioral disorders among 95 congenitally deafblind adults. Seventy-four…

  7. Characteristics of Individuals with Congenital and Acquired Deaf-Blindness

    ERIC Educational Resources Information Center

    Dalby, Dawn M.; Hirdes, John P.; Stolee, Paul; Strong, J. Graham; Poss, Jeff; Tjam, Erin Y.; Bowman, Lindsay; Ashworth, Melody

    2009-01-01

    Using a standardized assessment instrument, the authors compared 182 adults with congenital deaf-blindness and those with acquired deaf-blindness. They found that those with congenital deaf-blindness were more likely to have impairments in cognition, activities of daily living, and social interactions and were less likely to use speech for…

  8. Spontaneous resolution of isolated congenital megacystis: the incredible shrinking bladder

    PubMed Central

    Johnson, Emilie K.; Nelson, Caleb P.

    2014-01-01

    Isolated congenital megacystis represents a rare variant of fetal megacystis without other associated anomalies. The etiology is unclear, and various management strategies have been proposed. We report a case of isolated congenital megacystis that resolved over the first year of life with observation alone. Considerations for the evaluation and management of this rare entity are discussed. PMID:22910450

  9. Marrow hypoplasia associated with congenital neurologic anomalies in two siblings.

    PubMed

    Drachtman, R; Weinblatt, M; Sitarz, A; Gold, A; Kochen, J

    1990-10-01

    Two siblings with congenital neurologic structural anomalies and delayed-onset selective bone marrow hypoplasia in a previously undescribed constellation of symptoms are presented. Differences between these cases and other well known syndromes are discussed. The importance of this association is the implication that children with congenital neurologic abnormalities may be at increased risk for the development of hypoplastic hematopoietic conditions. PMID:2264478

  10. Consensus statement on standard of care for congenital muscular dystrophies.

    PubMed

    Wang, Ching H; Bonnemann, Carsten G; Rutkowski, Anne; Sejersen, Thomas; Bellini, Jonathan; Battista, Vanessa; Florence, Julaine M; Schara, Ulrike; Schuler, Pamela M; Wahbi, Karim; Aloysius, Annie; Bash, Robert O; Béroud, Christophe; Bertini, Enrico; Bushby, Kate; Cohn, Ronald D; Connolly, Anne M; Deconinck, Nicolas; Desguerre, Isabelle; Eagle, Michelle; Estournet-Mathiaud, Brigitte; Ferreiro, Ana; Fujak, Albert; Goemans, Nathalie; Iannaccone, Susan T; Jouinot, Patricia; Main, Marion; Melacini, Paola; Mueller-Felber, Wolfgang; Muntoni, Francesco; Nelson, Leslie L; Rahbek, Jes; Quijano-Roy, Susana; Sewry, Caroline; Storhaug, Kari; Simonds, Anita; Tseng, Brian; Vajsar, Jiri; Vianello, Andrea; Zeller, Reinhard

    2010-12-01

    Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee. PMID:21078917

  11. [Successful treatment of congenital cytomegalovirus infection with valganciclovir].

    PubMed

    Ishida, Yu; Miyajima, Tasuku; Shimura, Masaru; Morichi, Shinichiro; Morishima, Yasuyuki; Ioi, Hiroaki; Oana, Shingo; Yamanaka, Gaku; Kawashima, Hisashi; Hoshika, Akinori

    2012-01-01

    Congenital cytomegalovirus (CMV) infection occurs frequently in neonates. However, there are no screening tests or definitive treatments for this infection in Japan. We report a case of a 21-day-old Japanese boy with congenital CMV infection. He was referred to our hospital for treatment of congenital bilateral deafness. Brain magnetic resonance imaging (MRI) revealed cortical dysplasia of the temporal poles, enlarged ventricles, and areas of abnormal intensity in the white matter. He was given a diagnosis of congenital CMV infection based on the detection of CMV DNA in his urine and the umbilical cord. After the administration of valganciclovir, no CMV DNA was detected in his serum, and brain MRI and electroencephalogram findings, motor development, and deafness improved. Further investigation is needed to establish a screening test and treatment for congenital CMV infection in Japan. PMID:22352032

  12. The XXXXY Sex Chromosome Abnormality

    PubMed Central

    Barr, M. L.; Carr, D. H.; Pozsonyi, J.; Wilson, R. A.; Dunn, H. G.; Jacobson, T. S.; Miller, J. R.; Chown, B.

    1962-01-01

    The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants. Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency. That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7Fig. 8Fig. 9Fig. 10 PMID:13969480

  13. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

    PubMed

    Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

    2015-07-01

    The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described

  14. Early Developmental Outcomes of Children With Congenital HHV-6 Infection

    PubMed Central

    Hall, Caroline B.; Canfield, Richard L.; Davidson, Philip; Lofthus, Gerry; Schnabel, Kenneth; Carnahan, Jennifer; Shelley, Lynne; Wang, Hongyue

    2014-01-01

    OBJECTIVE: The goal of this study was to determine if congenital human herpesvirus-6 (HHV-6) infection influences early neurodevelopment. METHODS: We enrolled 57 newborns with HHV-6 congenital infection and 242 control newborns without congenital infection into a prospective, double-blind study with 4 visits between 4 and 30 months of age. Assessments included the Fagan Test of Infant Intelligence, the Visual Expectation Paradigm, and the Mental Development Index (MDI) of the Bayley Scales of Infant Development II. Newborn audiology screening and follow-up audiology examinations were completed at 12 to 24 months. RESULTS: No differences were noted in baseline characteristics between infants with HHV-6 congenital infection and control infants. No clinical syndrome due to congenital infection with HHV-6 was evident at birth. No differences were identified on the Fagan Test of Infant Intelligence or the Visual Expectation Paradigm between the two groups. In 39 infants with HHV-6 congenital infection, the mean ± SD Bayley Scale of Infant Development II MDI score was 103.4 ± 8.9 at 12 months of age. The matched control infants had a mean score of 105.4 ± 12.4. After controlling for covariates, HHV-6 congenital infection was associated with lower scores on the Bayley Scale of Infant Development II MDI at 12 months of age (mean difference: 4.3 [95% confidence interval: 0.4 to 8.1]; P = .03) compared with infants without HHV-6 congenital infection. CONCLUSIONS: Congenital HHV-6 infection may have a detrimental effect on neurodevelopment at 12 months of age and requires further study given that congenital infection with HHV-6 is present in ∼1 in every 101 births. PMID:25367540

  15. Congenital Nasopharyngeal Teratoma in a Neonate

    PubMed Central

    Mirshemirani, Alireza; Khaleghnejad, Ahmad; Mohajerzadeh, Leila; Samsami, Majid; Hasas-yeganeh, Shaghayegh

    2011-01-01

    Background Congenital germ cell tumors are uncommon. The most common site of teratoma is in the sacrococcygeal region. Teratoma arising from the head and neck comprises less than 10% of reported cases and of these, nasopharyngeal lesions are rare. Teratomas are generally benign, and have a well recognized clinical and histopathological entity. We present a case of nasopharyngeal teratoma (NPT) associated with a wide cleft palate. Case Presentation A 20 day old female neonate with a teratoma of the nasopharyngeal area, and wide cleft palate was referred to our center. The protruded mass which measured 6×4×3cm, was of soft consistency, blocked the airway, and prevented oral feeding. Preoperative evaluation and imaging was performed and mass was excised 2 days after admission. Pathology revealed a well-differentiated mature solid teratoma (hairy polyp). The patient had no complication in the post-operative period. Cleft palate was surgically repaired when 2 years old. She is now a six year old girl with normal development. Conclusion Congenital nasopharyngeal teratomas are usually benign. Surgery is the treatment of choice, and should be undertaken on an urgent basis, especially in a patient who presents with signs and symptoms of airway obstruction. PMID:23056797

  16. New patterns in genetic and congenital otonephropathies.

    PubMed

    Bergstrom, L; Thompson, P; Wood, R P

    1979-02-01

    In a series of chronic renal and congenitally deaf patients 24 were identified as having inborn renal and otologic disease. Sixteen patients, representing 14 families, had genetic disorders. Only two had the features of Alport's syndrome. The patients were classified as follows: 1) Probable Alport's--2 patients (1 family); 2) Atypical hereditary nephritis and sensorineural hearing loss--7 patients; 3) Renal and inner ear anomalies--1 patient; 4) Renal, inner ear and multiple anomalies--4 patients. The temporal bone pathology in one case showed primary neural atrophy and a mild Mondini malformation. In another a Scheibe defect and unusual calcific structures were found in the cochlear duct. 5) Renal, external or middle ear and multiple anomalies--6 patients (5 families); 6 Renal, middle and inner ear anomalies and multiple anomalies--2 patients. A temporal bone obtained from one case showed combined middle and inner ear defects. In the other, who had a chromosome defect, predominantly middle ear anomalies were found. 7) Nephrotic syndrome and congenital hearing loss--1 patient; 8) Unclassified--1 patient. Some cases represent entities apparently not previously described. Probably most interesting is the delineation of hereditary nephritis and deafness distinct from Alport's disease. PMID:423658

  17. Evaluation of Adults With Congenital Heart Disease.

    PubMed

    Graziani, Francesca; Delogu, Angelica Bibiana

    2016-03-01

    The clinical approach to adults with congenital heart diseases (ACHDs) is unique in cardiovascular medicine because these patients encompass a broad range of presentations. Each patient, despite having similar diagnosis, will be anatomically and physiologically unlike others within ACHD population, in relation to the type of repair, age at repair, associated defects, with specific long-term risk factors and complications. Furthermore, as many patients will not complain of symptoms, clinical evaluation and diagnostic testing must also be based on the underlying main diagnostic category, with complete standardized lesion-specific clinical protocols, investigating all known risk factors specific for each congenital heart disease and performed as part of screening for significant long-term complications. The first part of this review will focus on clinical history, physical examination, and the most important diagnostic testing in ACHD population. The second part of the article will focus on some clinical issues we have to face in our daily practice, such as heart failure, cyanosis, and pulmonary hypertension. Furthermore, as survival rates of ACHD population continue to improve and patients with this condition live longer, we will briefly report on a new clinical concern regarding the impact of acquired morbidities like coronary artery disease that appear to be of greater importance in defining outcome in older patients with ACHD. PMID:26957402

  18. Pathology of congenital syphilis in rabbits.

    PubMed Central

    Froberg, M K; Fitzgerald, T J; Hamilton, T R; Hamilton, B; Zarabi, M

    1993-01-01

    We have developed a model for congenital syphilis in the rabbit. This report provides additional information on newborn tissue pathology in animals that were infected in utero. A total of 35 pregnancies were evaluated, each containing 6 to 12 newborns. In the infected group, the mortality was approximately 50%; of the live newborns, half appeared normal and half were hyperreflexic, weak, and runty. Gross pathology in the sickly newborns was quite prevalent and involved enlarged spleens with isolated spots of necrosis; enlarged livers that were overtly congested and hemorrhagic and had numerous granular, white spots; and brains with hemorrhage in the occipital area. Histopathology was apparent in different tissues. Lymphocytes, plasma cells, and vacuolated macrophages were prominent in livers, spleens, brains, and bones. A few actively motile treponemes were visualized by dark-field microscopy within extracts of spleen and within cerebrospinal fluid. Low numbers of treponemes were also demonstrated in sections of brain and liver by using the Warthin-Starry silver stain technique. Blood hematocrits were decreased, and extramedullary hematopoiesis was prominent within spleens and livers; this is consistent with anemia. This rabbit model exhibits many of the same pathologic features commonly found in human congenital syphilis. Images PMID:8406873

  19. [Congenital heart defects in adulthood : Supraventricular tachycardia].

    PubMed

    Hebe, J

    2016-06-01

    Supraventricular tachycardia (SVT) based on congenital substrates, such as accessory pathways or dual atrioventricular nodal properties, occur with an increased probability linked to specific congenital heart defects (CHDs). In the literature, the association of Ebstein's anomaly with accessory pathways and with Mahaim fibers is most prominent. Compared with patients with otherwise normal hearts, the clinical relevance of SVT is typically more severe and therefore antiarrhythmia treatment is a necessity in many cases. Diagnostics, pharmaceutical treatment, and interventional therapy of SVT in patients with CHD are often demanding owing to anatomical, hemodynamic, and electro-anatomical peculiarities. The use of antiarrhythmic medication is often limited because of intolerable side effects and a lack of reliability in suppressing arrhythmia relapses in the long term. Within the last 15-20 years catheter ablation has thus become established as the first-choice treatment for SVT, even in patients with CHD. However, rates of success, recurrence, and risks are still inferior to those observed in patients with a normally functioning heart owing to the co-existence of vascular and cardiac anomalies, surgically created alterations, an unusual electro-anatomy, and lower tolerance to hemodynamic changes. Successful treatment in patients with CHDs and SVT requires a deep understanding and knowledge of all the disciplines discussed above and should only be practiced in dedicated centers, as patient numbers are small and therefore experience is limited. PMID:27225166

  20. A Case of Congenital Leukemia Cutis

    PubMed Central

    Hur, Jae; Kim, Yong Seok; Yu, Hee Joon

    2008-01-01

    Congenital leukemia is a rare condition diagnosed at birth to 6 weeks of life with an estimated incidence of 4.7 per million live births. In a review, about 25~30% of cases were well documented as leukemia cutis. We report a case of a 3-month-old infant presented with asymptomatic multiple erythematous to bluish patches and nodules, which had developed about two months ago. Biopsy of the cutaneous lesions revealed immature cells which are overall monotonous with large kidney shaped nucleus, prominent nucleoli and moderate cytoplasm. These atypical cells stained positive for leukocyte common antigen, lysozyme and CD68. With this result, a congenital leukemia cutis was diagnosed. Six months later, she underwent cord blood stem cell transplantation. Seven months after the cord blood stem cell transplantation, the bone marrow examination revealed a normal result. Leukemia can be presented in the skin, the eruption may be nonspecific and it may precede systemic involvement. The recognition is important because early diagnosis can lead to appropriate treatment, followed by better prognosis. PMID:27303164

  1. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

    Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways– all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects. PMID:24793338

  2. Computerized screening of children congenital heart diseases.

    PubMed

    Sepehri, Amir A; Hancq, Joel; Dutoit, Thierry; Gharehbaghi, Arash; Kocharian, Armen; Kiani, A

    2008-11-01

    In this paper, we propose a method for automated screening of congenital heart diseases in children through heart sound analysis techniques. Our method relies on categorizing the pathological murmurs based on the heart sections initiating them. We show that these pathelogical murmur categories can be identified by examining the heart sound energy over specific frequency bands, which we call, Arash-Bands. To specify the Arash-Band for a category, we evaluate the energy of the heart sound over all possible frequency bands. The Arash-Band is the frequency band that provides the lowest error in clustering the instances of that category against the normal ones. The energy content of the Arash-Bands for different categories constitue a feature vector that is suitable for classification using a neural network. In order to train, and to evaluate the performance of the proposed method, we use a training data-bank, as well as a test data-bank, collectively consisting of ninety samples (normal and abnormal). Our results show that in more than 94% of cases, our method correctly identifies children with congenital heart diseases. This percentage improves to 100%, when we use the Jack-Knife validation method over all the 90 samples. PMID:18718691

  3. Risk factors predisposing to congenital heart defects

    PubMed Central

    Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

    2011-01-01

    Introduction: Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. Methods: A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Results: Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Conclusions: Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD. PMID:21976868

  4. Congenital peripheral developing odontoma accompanied by congenital teratomatous fibroma in a 9-month-old boy: a case report.

    PubMed

    Mikami, Toshinari; Yagi, Masaatsu; Mizuki, Harumi; Takeda, Yasunori

    2013-03-01

    Peripheral odontoma is rare, and only two cases of congenital peripheral odontoma have been reported. Congenital oral fibroma is also rare. We describe a unique case of congenital peripheral developing odontoma accompanied by congenital teratomatous fibroma in an infant. Both tumors were difficult to detect on radiography. Two small masses were seen in the median anterior portion of the palatal mucosa of a 9-month-old boy. The masses had been present since birth and were surgically removed at age 28 months, when one of the masses had grown to a diameter of 8 mm. Histopathologic examination showed a fibrous lesion and a tooth germ-like rounded lesion composed of dental papilla, enamel organ, dentin, and cementum. Although congenital odontoma is rare, it should be considered when selecting appropriate treatment, as early radiographic detection is difficult. PMID:23485607

  5. Adult congenital heart disease and pulmonary arterial hypertension: the Texas Adult Congenital Heart Program experience.

    PubMed

    Franklin, Wayne J; Parekh, Dhaval R; Safdar, Zeenat

    2011-11-01

    Congenital heart disease (CHD) is a common structural defect of the heart or major blood vessels. Patients with adult congenital heart disease (ACHD) have medical needs that are distinct from those of pediatric patients with CHD, and the transition into adult health care is important for management of the patient with ACHD. A large proportion of patients with CHD develop diseases and complications associated with the long-term stress of intracardiac shunts. Pulmonary arterial hypertension (PAH) is a significant complication of some CHD lesions. The treatment of these patients remains challenging due to their combined heart and lung disease, and multidisciplinary care is ofen necessitated for a variety of secondary conditions. A number of treatment options are available for the management of PAH associated with CHD, including prostanoids, phosphodiesterase type-5 inhibitors, and endothelin receptor antagonists. This article discusses the diagnosis and management of such ACHD patients with PAH. PMID:22104452

  6. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

    PubMed

    Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S; Samocha, Kaitlin E; Karczewski, Konrad J; DePalma, Steven R; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A; Kim, Richard; Bilguvar, Kaya; López-Giráldez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E; Russell, Mark W; Mital, Seema; Newburger, Jane W; Gaynor, J William; Breitbart, Roger E; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J; Kaltman, Jonathan R; Seidman, Jonathan G; Brueckner, Martina; Gelb, Bruce D; Goldmuntz, Elizabeth; Lifton, Richard P; Seidman, Christine E; Chung, Wendy K

    2015-12-01

    Congenital heart disease (CHD) patients have an increased prevalence of extracardiac congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome sequencing of 1213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in the developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD, and CA but only 2% of patients with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, a regulator of mRNA splicing. Genes mutated in other cohorts examined for NDD were enriched in CHD cases, particularly those with coexisting NDD. These findings reveal shared genetic contributions to CHD, NDD, and CA and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients. PMID:26785492

  7. Relationship between TBX20 gene polymorphism and congenital heart disease.

    PubMed

    Yang, X F; Zhang, Y F; Zhao, C F; Liu, M M; Si, J P; Fang, Y F; Xing, W W; Wang, F L

    2016-01-01

    Congenital heart disease in children is a type of birth defect. Previous studies have suggested that the transcription factor, TBX20, is involved in the occurrence and development of congenital heart disease in children; however, the specific regulatory mechanisms are yet to be evaluated. Hence, this study aimed to evaluate the relationship between the TBX20 polymorphism and the occurrence and development of congenital heart disease. The TBX20 gene sequence was obtained from the NCBI database and the polymorphic locus candidate was predicted. Thereafter, the specific gene primers were designed for the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) of DNA extracted from the blood of 80 patients with congenital heart disease and 80 controls. The results of the PCR were subjected to correlation analysis to identify the differences between the amplicons and to determine the relationship between the TBX20 gene polymorphism and congenital heart disease. One of the single nucleotide polymorphic locus was found to be rs3999950: c.774T>C (Ala265Ala). The TC genotype frequency in the patients was higher than that in the controls, similar to that for the C locus. The odds ratio of the TC genotypes was above 1, indicating that the presence of the TC genotype increases the incidence of congenital heart diseases. Thus, rs3999950 may be associated with congenital heart disease, and TBX20 may predispose children to the defect. PMID:27323105

  8. Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

    PubMed

    Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-07-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

  9. Congenital joint laxity and dwarfism: A feed-associated congenital anomaly of beef calves in Canada

    PubMed Central

    Ribble, Carl S.; Janzen, Eugene D.; Proulx, Julien G.

    1989-01-01

    Five feeding trials were performed on three ranches to determine if a distinctive, recurring, congenital anomaly in beef calves was associated with feeding clover or grass silage without supplementation to pregnant cows overwinter. The anomaly, termed congenital joint laxity and dwarfism, was characterized at birth by generalized joint laxity, disproportionate dwarfism, and occasionally, superior brachygnathia. The anomaly had been documented for several consecutive years on these ranches and affected 2-46% of the calf crop. Pregnant cows were divided randomly into feeding groups, and the number of abnormal calves in each group was tabulated. Supplementation of the overwinter grass/clover silage diet with hay (2.5-4.5 kg/head/day) and rolled barley (0.75-1.5 kg/head/day) eliminated the problem. Supplementation of grain, without hay, was not as effective. Varying the proportions of grass and clover in the silage, and the age of the silage, did not alter the teratogenic potency of silage. Vitamin D3 supplementation did not reduce the risk of the condition. The definitive cause of congenital joint laxity and dwarfism was not determined. ImagesFigure 1.Figure 2. PMID:17423291

  10. Three dimensional echocardiography in congenital heart defects

    PubMed Central

    Shirali, Girish S.

    2008-01-01

    Three dimensional echocardiography (3DE) is a new, rapidly evolving modality for cardiac imaging. Important technological advances have heralded an era where practical 3DE scanning is becoming a mainstream modality. We review the modes of 3DE that can be used. The literature has been reviewed for articles that examine the applicability of 3DE to congenital heart defects to visualize anatomy in a spectrum of defects ranging from atrioventricular septal defects to mitral valve abnormalities and Ebstein's anomaly. The use of 3DE color flow to obtain echocardiographic angiograms is illustrated. The state of the science in quantitating right and left ventricular volumetrics is reviewed. Examples of novel applications including 3DE transesophageal echocardiography and image-guided interventions are provided. We also list the limitations of the technique, and discuss potential future developments in the field. PMID:20300232

  11. Genetic Factors in Congenital Diaphragmatic Hernia

    PubMed Central

    Holder, A. M.; Klaassens, M.; Tibboel, D.; de Klein, A.; Lee, B.; Scott, D. A.

    2007-01-01

    Congenital diaphragmatic hernia (CDH) is a relatively common birth defect associated with high mortality and morbidity. Although the exact etiology of most cases of CDH remains unknown, there is a growing body of evidence that genetic factors play an important role in the development of CDH. In this review, we examine key findings that are likely to form the basis for future research in this field. Specific topics include a short overview of normal and abnormal diaphragm development, a discussion of syndromic forms of CDH, a detailed review of chromosomal regions recurrently altered in CDH, a description of the retinoid hypothesis of CDH, and evidence of the roles of specific genes in the development of CDH. PMID:17436238

  12. Prenatal Diagnosis of Congenital Dermal Sinus

    PubMed Central

    Sakr, Sharif; Mohan, Yedathore; Malik, Asif; Malik, Ghaus; Gonik, Bernard

    2015-01-01

    Background Congenital dermal sinus (CDS) is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications. PMID:26199797

  13. Congenital Erythropoietic Porphyria with Undescended Testis

    PubMed Central

    Arora, Sandeep; Harith, Arun Kumar; Sodhi, Neha

    2016-01-01

    Hereditary porphyrias are a group of metabolic disorders of heme biosynthesis pathway that are characterized by acute neurovisceral symptoms, skin lesions, or both. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with a mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity. We report a case of CEP with infancy onset blistering, photosensitivity, red colored urine, and teeth along with scarring. Examination revealed an undescended testis of the left side. Mutation analysis revealed mutation in the uroporphyrinogen III synthase gene (UROS) resulting in c. 56 A > G (Tyr19Cys). The presence of undescended testis with a rare mutation in a case of CEP which itself is an extremely rare condition make the case interesting. PMID:27512208

  14. Congenital urethrovaginal fistula with transverse vaginal septum.

    PubMed

    Amer, Mohamed Ibrahim; Ahmed, Mortada El-Sayed; Ali, Ali Hagag

    2016-08-01

    Congenital urethrovaginal fistula is an extremely rare genitourinary anomaly. Literature search identified only five reported cases, all of which were associated with urogenital abnormalities. Transverse vaginal septum is another rare condition, resulting from abnormalities in the vertical fusion between the vaginal components of the Mullerian ducts and the urogenital sinus; and associated fistulous connection of the vagina with the urethra is even rarer. Herein we describe the case of a 35-year-old woman who presented with dyspareunia, and a 1-year history of infertility, who was found to have a urethrovaginal fistula with low transverse vaginal septum. The patient was successfully treated with excision of the septum and closure of the urethrovaginal fistula. PMID:27170419

  15. Epidermolysis bullosa and congenital pyloric atresia

    PubMed Central

    Mithwani, Anwar Adil; Hashmi, Asif; Adil, Salman

    2013-01-01

    The association between epidermolysis bullosa (EB) and pyloric atresia (PA) is rare but well documented. Herein, we report a case of EB associated with congenital PA. A female baby, weighing 1480 g, was born vaginally to a 31-year-old gravida 7 lady at 33 weeks of gestation. Polyhydramnios was detected on antenatal assessment. The parents were non-consanguineous Saudis with no family history of significant illness. At birth, well-demarcated areas of peeled skin were present over knees, left leg and periumbilical region. Systemic examination revealed no other abnormality. On second day, the patient developed recurrent vomiting and abdominal distension. An abdominal X-ray revealed a single gastric gas bubble suggesting pyloric obstruction. Following gastroduodenostomy, the baby developed severe sepsis with multiorgan dysfunction and expired on 25th day of life. Skin biopsy showed cleavage within lamina lucida. PMID:24068383

  16. [Clinical aspects of congenital maxillofacial deformities].

    PubMed

    Sólya, Kitti; Dézsi, Csilla; Vanya, Melinda; Szabó, János; Sikovanyecz, János; Kozinszky, Zoltán; Szili, Károly

    2015-09-13

    The cleft lip and palate deformity is one of the most common type of congenital abnormalities. The aim of this paper is to summarise the literature knowledge about cleft lip and/or palate. The authors review and discuss international literature data on the prevention, genetic and environmental predisposing factors, anatomical and embryological features, as well as pre- and post-natal diagnosis and treatment of these deformities. The aetiology is multifactorial, driven by both genetic and environmental factors which lead to multifaceted phenotypes and clinical features of these malformations. The lack of the multidisciplinary knowledge about prenatal diagnosis, prevention, genetic aspects and treatment strategy could result in serious diagnostic errors, hence clinical teamwork is critically important to solve the problems of this pathology. Only the professional teamwork and multidisciplinary cooperation can guarantee the optimal level of health care and better quality of life for these patients and their families. PMID:26552024

  17. Congenital varicella syndrome: A systematic review.

    PubMed

    Ahn, Ki Hoon; Park, Yun-Jung; Hong, Soon-Cheol; Lee, Eun Hee; Lee, Ji-Sung; Oh, Min-Jeong; Kim, Hai-Joong

    2016-07-01

    Varicella-zoster virus (VZV) is a teratogen that can cross the placenta and cause the congenital varicella syndrome (CVS), which is characterised by multi-system anomalies. There have been 130 reported cases of CVS from 1947 to 2013. The estimated incidence of CVS was 0.59% and 0.84% for women infected with VZV during the entire pregnancy and for those infected the first 20 weeks of pregnancy, respectively. Nine cases were reported at 21-27 weeks of gestation and one case was identified at 36 weeks. Herpes zoster caused CVS in two cases. Regarding treatment, varicella zoster immunoglobulin treatment, irrespective of gestational age, should be considered in addition to antiviral drugs for women who have been exposed to or infected with virus. PMID:26965725

  18. Deringing procedure for congenital pulmonary vein stenosis.

    PubMed Central

    Victor, S; Nayak, V M

    1995-01-01

    We operated on a 14-year-old boy who had an echocardiographic diagnosis of ventricular septal defect. At surgery we found, in addition, an anomalous and obstructive intraventricular muscle bundle. Detection of a continuous thrill over the right pulmonary veins, prior to cardiopulmonary bypass, led to exploration of the left atrium. The ostia of the right superior and inferior pulmonary veins were impeded by circumferential membranous rings of endocardium with central stenotic openings. Excision of these annular rings relieved the obstruction. The left lung was drained by a long intrapericardial common venous channel that entered the left atrium through a stenotic ostium; excision of an annular ridge of endocardium restored normal flow. The patient remains asymptomatic after 23 months. The case is reported for the new deringing technique and the rarity of successful correction of congenital pulmonary vein stenosis. Images PMID:7647600

  19. Neonatal screening for congenital hypothyroidism in Japan.

    PubMed

    Minamitani, Kanshi; Inomata, Hiroaki

    2012-10-01

    Congenital hypothyroidism may cause irreversible intellectual disability or failure to thrive if left untreated. Because this disorder can be prevented by early identification and early treatment, newborn mass screening started in 1979 in Japan. A guideline for mass screening for this disease was prepared in 1998. Currently, approximately 100% of newborns undergo this mass screening. The screening results show significant improvement of the intellectual outcome of patients with this disease, with almost no patients having irreversible intellectual disturbance or failure to thrive. However, there are issues of a delayed increase in thyroid stimulating hormone, management of latent hypothyroidism, and detection of central hypothyroidism. In recent years, as studies on this disease have advanced at the molecular level, many causative genes have been reported, clarification of the etiology, pathology, and clinical features has progressed, and new findings have been obtained. PMID:23330249

  20. Congenital muscular torticollis and positional plagiocephaly.

    PubMed

    Kuo, Alice A; Tritasavit, Sophie; Graham, John M

    2014-02-01

    On the basis of observational studies, child health practitioners in primary care settings should consider the diagnosis of congenital muscular torticollis (CMT)in infants with risk factors from birth history for intrauterine malpositioning or constraint (C). On the basis of observational studies, CMT is often associated with other conditions, including positional plagiocephaly and gross motor delays from weakened truncal muscles and/or lack of head control in early infancy (C). On the basis of observational studies, child health practitioners should counsel parents that infants should be on their stomachs frequently whenever they are awake and under direct adult supervision to develop their prone motor skills (C). On the basis of consensus, early identification of CMT(with or without positional plagiocephaly) and prompt referral to a physical therapist experienced in the treatment of CMT should be considered to avoid more costly or invasive treatments, such as cranial orthoses or surgery (D). PMID:24488831

  1. Congenital absence of pulmonary valve leaflets.

    PubMed Central

    Buendia, A; Attie, F; Ovseyevitz, J; Zghaib, A; Zamora, C; Zavaleta, D; Vargas-Barron, J; Richheimer, R

    1983-01-01

    Congenital absence of pulmonary valve leaflets is an uncommon condition usually associated with ventricular septal defect and an obstructive pulmonary valve ring. Twenty-one patients with these malformations are described. Twenty had an associated ventricular septal defect with ventriculoarterial concordance, and one also had transposition of the great arteries, ventricular septal defect, and obstructive pulmonary valve ring. The clinical features, cardiac catheterisation findings, and angiocardiographic results are presented. Twelve patients underwent cardiac surgery. Three patients died, one in the early, and the other two in the late postoperative period. The results, according to the surgical technique employed and postoperative cardiac catheterisation findings, showed that patients in whom the bioprostheses were implanted in the pulmonary position had a better late follow-up. Images PMID:6860509

  2. Laryngeal obstruction in congenital plasminogen deficiency.

    PubMed

    Cohen, Jonathan; Cohen, Shlomo; Cymberknoh, Malena Cohen; Gross, Menachem; Hirshoren, Nir; Shoseyov, David

    2012-09-01

    Type 1 congenital plasminogen deficiency (CPD) is a rare autosomal recessive disease which causes formation of fibrin pseudomembranes that affect multiple systems/organs: the eyes, respiratory system, urinary and genital systems, gastrointestinal system, and the central nervous system. We present a rare manifestation of the disease-severe upper airway obstruction due to a rapidly growing mass in the supraglottic region-6 months after dental treatment under general anesthesia. The management of such a manifestation has not been discussed in the current literature. Due to deterioration in his clinical status, the patient eventually underwent both a tracheotomy in order to bypass the obstruction, and excision of the supraglottic mass. Within a few days the mass recurred with complete obstruction of the upper airway. PMID:22328462

  3. Congenital Muscular Dystrophies: A Brief Review

    PubMed Central

    Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania

    2011-01-01

    Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is compatible with a dystrophic myopathy. In the past 10 years, knowledge of neuromuscular disorders has dramatically increased, particularly with the exponential boost of disclosing the genetic background of CMDs. This review will highlight the clinical description of the most important forms of CMD, paying particular attention to the main keys for diagnostic approach. The diagnosis of CMDs requires the concurrence of expertise in multiple specialties (neurology, morphology, genetics, neuroradiology) available in a few centers worldwide that have achieved sufficient experience with the different CMD subtypes. Currently, molecular diagnosis is of paramount importance not only for phenotype-genotype correlations, genetic and prenatal counseling, and prognosis and aspects of management, but also concerning the imminent availability of clinical trials and treatments. PMID:22172424

  4. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

    PubMed

    Nimkarn, Saroj; Lin-Su, Karen; New, Maria I

    2011-10-01

    Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency. The three forms of CAH are then discussed in terms of clinical presentation, diagnosis and treatment, and genetic basis. Prenatal diagnosis and treatment are also reviewed. The goal of therapy is to correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied. PMID:21981961

  5. Congenital Vertical Talus: Etiology and Management.

    PubMed

    Miller, Mark; Dobbs, Matthew B

    2015-10-01

    Congenital vertical talus is a rare foot deformity. If left untreated, it causes significant disability, including pain and functional limitations. Although the etiology of vertical talus is likely heterogeneous, recent evidence strongly supports a genetic cause linking it to genes expressed during early limb development. Traditional management for vertical talus involves extensive surgeries that are associated with significant short- and long-term complications. A minimally invasive approach that relies on serial manipulation and casting to achieve most of the correction has been shown to produce excellent short-term results with regard to clinical and radiographic correction in both isolated and nonisolated cases of vertical talus. Although long-term studies are needed, achieving correction without extensive surgery may lead to more flexible and functional feet, much as Ponseti method has done for clubfeet. PMID:26337950

  6. Singing proficiency in congenital amusia: imitation helps.

    PubMed

    Tremblay-Champoux, Alexandra; Dalla Bella, Simone; Phillips-Silver, Jessica; Lebrun, Marie-Andrée; Peretz, Isabelle

    2010-09-01

    Singing out of tune characterizes congenital amusia. Here, we examine whether an aid to memory improves singing by studying vocal imitation in 11 amusic adults and 11 matched controls. Participants sang a highly familiar melody on the original lyrics and on the syllable /la/ in three conditions. First, they sang the melody from memory. Second, they sang it after hearing a model, and third, they sang in unison with the model. Results show that amusic individuals benefit from singing by imitation, whether singing after the model or in unison with the model. The amusics who were the most impaired in memory benefited most, particularly when singing on the syllable /la/. Nevertheless, singing remains poor on the pitch dimension; rhythm was intact and unaffected by imitation. These results point to memory as a source of impairment in poor singing, and to imitation as a possible aid for poor singers. PMID:21864199

  7. Neurosurgical management of congenital malformations of the brain.

    PubMed

    Hervey-Jumper, Shawn L; Cohen-Gadol, Aaron A; Maher, Cormac O

    2011-08-01

    Congenital malformations encompass a diverse group of disorders that often present at birth, either as the result of genetic abnormalities, infection, errors of morphogenesis, or abnormalities in the intrauterine environment. Congenital disorders affecting the brain are now often diagnosed before delivery with the use of prenatal ultrasonography. Over the past several decades, there have been major advances in the understanding and management of these conditions. This review focuses on the most common cranial congenital malformations, limiting the discussion to the neurosurgically relevant aspects of arachnoid cysts, pineal cysts, Chiari malformations, and encephaloceles. PMID:21807319

  8. Global Challenges in the Management of Congenital Cataract

    PubMed Central

    Lenhart, Phoebe D.; Courtright, Paul; Wilson, M. Edward; Taylor, David Samuel; Lewallen, Susan; Ventura, Marcelo C.; Bowman, Richard; Woodward, Lee; Ditta, Lauren C.; Kruger, Stacey; Haddad, Danny; El Shakankiri, Nihal; Rai, Salma KC; Bailey, Tehara; Lambert, Scott R.

    2015-01-01

    Summary Childhood cataracts have become a leading cause of preventable childhood blindness in many areas of the world. Here we summarize regional focus group discussions from the 4th Annual International Congenital Cataract Symposium on the current situation, challenges, and recommendations for the management of congenital cataracts in sub-Saharan Africa, the Middle East and North Africa, South Asia, Central America, South America, and developed nations. Strategies for managing congenital cataracts must be adapted and developed according to regional conditions. A basic framework for acceptable outcomes must focus on developing systems to address the critical components of education, access, quality care, and good follow-up. PMID:25892047

  9. Genetic testing in congenital heart disease: ethical considerations.

    PubMed

    Lin, Kimberly Y; D'Alessandro, Lisa C A; Goldmuntz, Elizabeth

    2013-01-01

    On March 16, 2012, the Ethics of the Heart 2012: Ethical and Policy Challenges in Pediatric and Adult Congenital Heart Disease Conference took place in Philadelphia, Pennsylvania. The first session focused on the ethics surrounding genetic testing in patients with congenital heart disease. Summarized here is the introductory presentation given by Dr Elizabeth Goldmuntz entitled "The Role of Genetic Testing in Congenital Heart Disease," followed by a case presentation given by Dr Lisa D'Alessandro. The case and the panel discussion that ensued highlight several ethical principles and challenges in this unique patient population. PMID:23799755

  10. Clinical aspects of congenital syphilis with Hutchinson’s triad

    PubMed Central

    Pessoa, Larissa; Galvão, Virgilio

    2011-01-01

    Congenital syphilis is an infectious disease caused by Treponema pallidum transmitted by infected mother to her baby during pregnancy. Late congenital syphilis is recognised with 2 or more years after birth. One of the main aspects is observed with the triad of Hutchinson, characterised by the presence of interstitial keratitis, eighth nerve deafness and Hutchinson’s teeth. This manuscript reports a case of late congenital syphilis presenting with Hutchinson’s triad at an age of 7 years. These clinical features are related to syphilis present during pregnancy and at birth, however they commonly become apparent after 5-years of age. PMID:22670010

  11. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  12. Congenital rubella syndrome with positive serology and virus isolation.

    PubMed

    Ooi, H L; Cheong, S M; Yogeswery, S; Norizah, I; Zuridah, H; Kumarasamy, V; Chua, K B

    2006-06-01

    An effective live attenuated rubella vaccine was available since 1969 and congenital rubella syndrome can be prevented with appropriate vaccination. We report a baby with congenital rubella syndrome born in Klang valley to indicate that the Universal Rubella Vaccination Programme adopted by the Ministry of Health Malaysia since 2002 has yet to achieve its effect of eliminating transmission of rubella and preventing congenital rubella infection in the community. To our knowledge, the virus isolate represents the first successful isolation of rubella virus in this country and will serve as the reference strain for future comparison in molecular epidemiological tracking of rubella virus activity this country. PMID:16898324

  13. A congenital mucocele of the anterior dorsal tongue.

    PubMed

    Wong Chung, J E R E; Ensink, R J H; Thijs, H F H; van den Hoogen, F J A

    2014-07-01

    We report on a new-born with a congenital mucocele on the anterior dorsal side of the tongue. The presentation as well as the differential diagnosis of congenital oral swellings is discussed. Because of breastfeeding problems the mucinous swelling was incised and drained two days after birth. Immediately after drainage the swelling disappeared. Congenital oral swellings are rare. Most of them are mucoceles. Post-partum treatment is surgically, but spontaneous remission has been described. High incidence of recurrence should be taken into account when (micro-)marsupialization or incision as sole treatment is performed. PMID:24814234

  14. Congenital vascular malformations in scintigraphic evaluation

    PubMed Central

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

  15. A neonate with critical congenital heart disease.

    PubMed

    Linder, Jarrett; Dawson, Emily; Williams, Paula

    2014-05-01

    Critical congenital heart disease (CCHD) is defined as a ductal-dependent congenital heart defect requiring surgical or percutaneous intervention via cardiac catheterization before 1 year of age. Most cases of CCHD can be diagnosed with prenatal ultrasound or fetal echocardiogram. If not prenatally diagnosed, CCHD can be stable in the newborn nursery due to persistent ductal patency, and the patient may only be diagnosed after ductal closure and development of cardiac symptoms at home. In this case, a 6-day-old female presented to the emergency department (ED) floppy with agonal respirations, poor capillary refill, and absent femoral pulses. On the day of presentation, the patient became increasingly fussy, refused feeding, and began to gasp. The patient was transported to the ED for evaluation, where a bedside echocardiogram revealed interrupted aortic arch (IAA), ventricular septal defect, minimal flow through a thread-like ductus arteriosus, and severely depressed cardiac function. IAA is very rare, with an incidence of three cases per 1 million live births. Patients require neonatal supportive care, continuous prostaglandin E1 infusion, and urgent referral for neonatal surgical repair in the first days to weeks of life. To reduce the volume of undiagnosed CCHD in the immediate newborn period, the U.S. Department of Health and Human Services Secretary's Advisory Committee on Heritable Diseases in Newborns and Children (SACHDNC) recommended that CCHD screening via pulse oximetry be added to the recommended uniform screening panel. A positive screen results in an immediate referral for an echocardiogram. Fetal diagnosis, newborn screening, and/or careful clinical examination may have resulted in detection of IAA in our patient prior to ductal closure. PMID:24877491

  16. Aerobic Training in Patients with Congenital Myopathy

    PubMed Central

    Hedermann, Gitte; Vissing, Christoffer Rasmus; Heje, Karen; Preisler, Nicolai; Witting, Nanna; Vissing, John

    2016-01-01

    Introduction Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. Methods Patients exercised on a stationary bike for 30 minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max). Creatine kinase (CK) was monitored as a marker of muscle damage. VO2max, functional tests, and questionnaires evaluated efficacy. Results Sixteen patients with CM were included in a controlled study. VO2max increased by 14% (range, 6–25%; 95% CI 7–20; p < 0.001) in the seven patients who completed training, and tended to decrease in a non-intervention group (n = 7; change -3.5%; range, -11–3%, p = 0.083). CK levels were normal and remained stable during training. Baseline Fatigue Severity Scale scores were high, 4.9 (SE 1.9), and tended to decrease (to 4.4 (SE 1.7); p = 0.08) with training. Nine patients dropped out of the training program. Fatigue was the major single reason. Conclusions Ten weeks of endurance training is safe and improves fitness in patients with congenital myopathies. The training did not cause sarcomeric injury, even though sarcomeric function is affected by the genetic abnormalities in most patients with CM. Severe fatigue, which characterizes patients with CM, is a limiting factor for initiating training in CM, but tends to improve in those who train. Trial Registration The Regional Committee on Health Research Ethics of the Capital Region of Denmark H-2-2013-066 and ClinicalTrials.gov H2-2013-066 PMID:26751952

  17. Congenital Aberrant Tearing: A Re-Look

    PubMed Central

    Miller, Marilyn T.; Strömland, Kerstin; Ventura, Liana

    2008-01-01

    Purpose Congenital aberrant tearing is characterized by tearing when eating (“crocodile tears”), lack of emotional tearing, or both. Most reported cases are associated with Duane syndrome. In our previous studies we observed aberrant tearing in individuals with thalidomide embryopathy and Möbius sequence. This report summarizes the literature on the subject and adds 3 new studies that give information on this unusual condition. Methods Twenty-eight individuals with Möbius sequence were interviewed about tearing symptoms at a support group meeting in Italy. In Sweden 30 adults primarily from the original thalidomide series were reexamined. In this latter study, a Schirmer test was done at baseline and repeated 5 minutes after eating. Twenty families in Brazil who have children with Möbius sequence were questioned about tearing symptoms and exposure to misoprostol during pregnancy. Results In the 28 Italian individuals, either “crocodile tears” or lack of emotional tearing was noted in 7 cases. In the thalidomide study, 10 of 30 patients had tearing when eating and 7 had no emotional tearing. Low Schirmer scores or increased tearing after eating was noted in a few asymptomatic individuals. Among the 20 Brazilian children with Möbius sequence, 10 had some tearing abnormality. Conclusion Congenital anomalous lacrimation is rare but usually associated with Duane syndrome or abduction deficits, as in Möbius sequence and, less frequently, facial nerve palsy. Studies implicate an early insult in development at 4 to 6 weeks. At that time the facial nerve, sixth nerve, and lacrimal nucleus are in close proximity in the embryo. PMID:19277226

  18. Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

    PubMed Central

    Mehar, Virendra; Yadav, Dinesh; Kumar, Ravindra; Yadav, Summi; Singh, Kuldeep; Callewaert, Bert; Pathan, Shahnawaz; De Paepe, Anne; Coucke, Paul J.

    2014-01-01

    Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly.

  19. Genetics Home Reference: spondylocarpotarsal synostosis syndrome

    MedlinePlus

    ... is especially important in the development of the skeleton before birth. It is active (expressed) in the ... flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted ...

  20. Progressive Hearing Impairment in Children with Congenital Cytomegalovirus Infection.

    ERIC Educational Resources Information Center

    Dahle, Arthur J.; And Others

    1979-01-01

    Audiological assessment of 86 children (mean age 38 months at last evaluation time) with congenital cytomegalovirus infection revealed progressive hearing loss in four of 12 Ss with sensorineural hearing impairments. Case descriptions documented the progression of the hearing loss. (Author)

  1. Congenital cytomegalovirus infection: Clinical presentation, epidemiology, diagnosis and prevention

    PubMed Central

    van Zuylen, Wendy J; Hamilton, Stuart T; Naing, Zin; Hall, Beverly; Shand, Antonia

    2014-01-01

    Cytomegalovirus is the most common congenital infection causing serious disease in infants. It is the leading infectious cause of sensorineural hearing loss and neurodevelopmental disability in developed countries. Despite the clinical importance of congenital cytomegalovirus, surveys show there is limited awareness and knowledge in the medical and general community about congenital cytomegalovirus infection. This article reviews the clinical features, global epidemiology, transmission and risk factors for cytomegalovirus infections. It also highlights several major advances made in recent years in the diagnosis and prevention of cytomegalovirus infection during pregnancy. Although research is ongoing, no therapy is currently proven to prevent or treat maternal, fetal or neonatal cytomegalovirus infection. Education of women regarding hygiene measures can help prevent cytomegalovirus infection and are currently the best strategy to prevent congenital cytomegalovirus disease.

  2. Congenital Malaria in Calabar, Nigeria: The Molecular Perspective

    PubMed Central

    Oduwole, Olabisi A.; Ejezie, G. C.; Odey, Friday A.; Oringanje, Chioma M.; Nwakanma, Davis; Bello, Segun; Oriero, Eniyou; Okebe, Joseph; Alaribe, Anyawu A.; Etuk, Saturday; Meremikwu, Martin

    2011-01-01

    Polymerase chain reaction (PCR) has been shown to be more sensitive in detecting low-level parasitemia than conventional blood film microscopy. We estimated the prevalence of congenital malaria using nested PCR amplification of the small subunit 18S RNA gene to detect low-level parasitemia and identify Plasmodium species in 204 mother–neonate pairs. Cord-blood parasitemia was detected in four babies by PCR, giving a prevalence of 2.0%. The newborns of primidgravidae were more susceptible to congenital malaria than those of multigravidae (P < 0.0001). There was a strong correlation between placental malaria and congenital malaria (odds ratio = 10.1, 95% confidence interval = 1.3–76.1, P = 0.0487). We conclude that the prevalence of congenital malaria in Calabar detected by PCR is lower than has been reported in this environment through microscopy. PMID:21363974

  3. Congenital hypothyroidism of dogs and cats: a review.

    PubMed

    Bojanic, K; Acke, E; Jones, B R

    2011-05-01

    Congenital hypothyroidism is a rare and underdiagnosed congenital endocrine disorder in dogs and cats and the true incidence is unknown. The disorder may cause a range of clinical signs depending on the primary defect, which affect production of thyroid hormones; some cases present when adult. Hallmark clinical signs of congenital hypothyroidism are mental impairment and skeletal developmental abnormalities, resulting in disproportionate dwarfism; goitre may or may not be present. Documented causes of congenital hypothyroidism in dogs include deficiency of, or unresponsiveness to, thyrotropin-releasing hormone (TRH) or thyroid-stimulating hormone (TSH), thyroid dysgenesis, dyshormonogenesis and iodine deficiency. In cats, TSH unresponsiveness, thyroid dysgenesis, dyshormonogenesis and iodine deficiency have been confirmed. Adequate replacement therapy results in a successful outcome in the majority of cases, especially when started early in life, as permanent developmental abnormalities can be prevented. This review describes reported cases in dogs and cats, diagnostic investigation, and recommendations for treatment. PMID:21541884

  4. Congenital heart disease in spondylothoracic dysostosis: two familial cases.

    PubMed Central

    Simpson, J M; Cook, A; Fagg, N L; MacLachlan, N A; Sharland, G K

    1995-01-01

    Two familial cases of spondylothoracic dysostosis are reported. Both cases had severe congenital heart disease in addition to the skeletal malformations which are characteristic of the condition. Images PMID:7473656

  5. Therapeutic Cardiac Catheterizations for Children with Congenital Heart Disease

    MedlinePlus

    ... Cardiac Catheterization In the last two decades, tremendous medical advances have been made. These allow congenital heart defects to be treated in the cath lab without surgery. Valvuloplasty or Balloon Valvotomy This procedure is done to open a ...

  6. Epidermal Choristoma of the Tongue Mimicking a Congenital Melanotic Macule.

    PubMed

    Curto-Barredo, Laia; Vicente, Asunción; Rovira, Carlota; García-Diez, Eloy; Pujol, Ramón M; González-Enseñat, Maria Antonia

    2015-01-01

    We report the fifth case of epidermal choristoma of the oral cavity in a Caucasian newborn with a congenital melanotic macule on the dorsum of the tongue. Epidermal choristoma is an exceedingly rare and benign condition probably caused by a developmental abnormality. It is identified according to the presence of normal skin in an abnormal location. Histologically it is identified according to areas of stratified epithelium and hyperpigmentation of the basal layer along with cutaneous adnexal structures (hair follicles, sebaceous or sweat glands). The clinical presentation is variable, but most of the cases described presented with a congenital lingual pigmented macule. These lesions should be included within the differential diagnosis of congenital lingual macules and distinguished from other entities such as congenital lingual melanotic macules and melanocytic lesions. Surgical excision is the treatment of choice. Epidermal choristoma is a benign condition that probably is underdiagnosed because it is a new and rare entity, and dermatologists should be aware of it. PMID:25529319

  7. Congenitally Corrected Transposition of the Great Arteries (CCTGA)

    MedlinePlus

    ... Understanding Your Adult Congenital Heart Disease Quality of Life Birth Control Pregnancy and ... Corrected Transposition of the Great Arteries (CCTGA)* *Please note: This article is directed to those who have not undergone ...

  8. [Long-range intelligence development of children with congenital hypothyroidism].

    PubMed

    Donczik, J; Hesse, V; Daute, K H; Mancke, S; Mohnike, K

    1991-11-01

    The intellectual development of 105 children with congenital hypothyroidism was assessed. In 70 children the assessment was repeated in several times. Correlations between development of intelligence and influence of biological and/or psychosocial risks were verified. PMID:1758137

  9. Optical coherence tomography in a patient with congenital vitreous cyst

    PubMed Central

    Dragnev, Daniel; Shanmugalingam, Sinnathamboo

    2014-01-01

    A case of congenital vitreous cyst is presented. An optical coherence tomography scan has been performed, which has shown that the cyst is free floating and is multilobular. Its content was hyper-reflective. PMID:24962488

  10. Parenting Styles and the Depressive Syndrome in Congenitally Blind Individuals.

    ERIC Educational Resources Information Center

    Lambert, Robert; West, Malcolm

    1980-01-01

    The article discusses the effect on congenitally blind children of three types of parents: those who are overprotective, those who push the child toward independence too soon, and those who are "good enough." (Author)

  11. Congenital lobar emphysema. A rare cause of hypertension.

    PubMed

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-07-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occured and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  12. Prevalence of minor musculoskeletal anomalies in children with congenital hypothyroidism.

    PubMed

    El Kholy, Mohamed; Fahmi, Marwa E; Nassar, Ayman E; Selim, Samia; Elsedfy, Heba H

    2007-01-01

    In the last decade a high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in a cohort of children with confirmed primary CH due to thyroid dysgenesis was investigated. A high prevalence of extrathyroidal major congenital anomalies (15.9%), more than 5-fold higher than that reported in the Egyptian population (2.7%), was found. The cardiac and musculoskeletal systems were the most commonly involved, comprising 9.09 and 47.72% of all anomalies, respectively. The high prevalence of musculoskeletal anomalies in this study was mostly due to minor anomalies as brachydactyly and digitalization of thumbs. The type of dysgenesis (i.e. aplastic, ectopic or hypoplastic) as well as the severity of hypothyroidism, as assessed by TSH and T(4) levels at diagnosis, had no relation with the occurrence of extrathyroidal abnormalities. PMID:17587855

  13. Xenopus: An Emerging Model for Studying Congenital Heart Disease

    PubMed Central

    Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.

    2011-01-01

    Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

  14. Refractory cardiogenic shock in an infant with congenital hypothyroidism.

    PubMed

    Zaki, Syed Ahmed; Dolas, Amit

    2012-07-01

    Thyroid dysfunction causes remarkable cardiovascular derangements. Both systolic and diastolic dysfunction of the heart can occur in hypothyroidism leading to cardiac arrhythmia and congestive heart failure. Refractory cardiogenic shock and hypotension in congenital hypothyroidism is rare. We describe a 5-month-old female infant with congenital hypothyroidism and refractory cardiogenic shock. Cardiac function and hemodynamic stability were restored after starting levothyroxine therapy. PMID:23188956

  15. Multimodality 3-Dimensional Image Integration for Congenital Cardiac Catheterization

    PubMed Central

    2014-01-01

    Cardiac catheterization procedures for patients with congenital and structural heart disease are becoming more complex. New imaging strategies involving integration of 3-dimensional images from rotational angiography, magnetic resonance imaging (MRI), computerized tomography (CT), and transesophageal echocardiography (TEE) are employed to facilitate these procedures. We discuss the current use of these new 3D imaging technologies and their advantages and challenges when used to guide complex diagnostic and interventional catheterization procedures in patients with congenital heart disease. PMID:25114757

  16. Congenitally corrected transposition and degenerative severe aortic stenosis.

    PubMed

    Faganello, Giorgio; Nelson, Martin; Stuart, Graham

    2008-10-01

    Congenitally corrected transposition is a rare cardiac anomaly characterized by the combination of discordant atrioventricular and ventriculoarterial connections. Young patients with this lesion can present with congestive cardiac failure, usually secondary to a large ventricular septal defect or pulmonary stenosis. We report here our experience with a lady aged 79, admitted to our unit because of deterioration of her congestive cardiac failure as a consequence of uncorrected congenitally corrected transposition associated with degenerative severe aortic stenosis. PMID:18752714

  17. Ultrasonography in Diagnosis of Congenital Absence of the Vas Deferens

    PubMed Central

    Li, Liang; Liang, Chaozhao

    2016-01-01

    Background Congenital absence of the vas deferens is an important cause of obstructive azoospermia, and the lack of an imaging diagnostic test is a critical problem. The aim of this study is to discuss the use of ultrasonography in congenital absence of vas deferens, including dysplasia of the epididymis and the seminal vesical. Material/Methods Five fresh spermatic cord specimens were detected by ultrasonography (US) to evaluate the image of the spermatic cord segment of the vas deferens. Fifty normal males had scrotal US to confirm whether the normal spermatic cord segment of the vas deferens can be detected and to measure the internal and external diameter on the long axis view. Forty-six males clinically diagnosed as having congenital absence of vas deferens underwent scrotal US to evaluate the spermatic cord segment of the vas deferens and the epididymis. The seminal vesicals were detected with transrectal ultrasonography. We evaluated images of the vas deferens, epididymis, and seminal vesical. Results Scrotal ultrasonography can distinguish the vas deferens from the other cord-like structures in the spermatic cord, and the vas deferens has a characteristic image. Scrotal ultrasonography detected all 50 normal males and measured the diameter. No statistically significant difference was found between the left and right measurements. In the 46 patients, the following anomalies were observed: 1) 42 cases of congenital bilateral absence of vas deferens; 2) 2 cases of congenital unilateral absence of the vas deferens; and 3) 1 case of congenital segmental absence of the vas deferens. All 46 cases were accompanied with epididymis and seminal vesical anomalies. Conclusions The spermatic cord segment of the vas deferens can be detected by US, which is a valuable tool in diagnosis of congenital absence of the vas deferens. Seminal vesical and epididymis anomalies often associated with congenital absence of the vas deferens were revealed by ultrasonography. PMID

  18. A Rare Case of Congenital Ranula in an Infant

    PubMed Central

    Mneimneh, Sirin; Barazi, Randa; Rajab, Mariam

    2016-01-01

    Ranula is a mucus extravasation cyst originating from the sublingual gland on the floor of the mouth. Congenital ranula is very rare. We report a case of a 4-month-old girl with a congenital ranula in the floor of mouth. The ranula was treated first by marsupialization, but the cyst recurred after 1 week. Excision of the ranula was done and was successful. PMID:27313929

  19. Congenital heart disease and chromossomopathies detected by the karyotype

    PubMed Central

    Trevisan, Patrícia; Rosa, Rafael Fabiano M.; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G.

    2014-01-01

    OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype. PMID:25119760

  20. Indications for Heart Transplantation in Congenital Heart Disease

    PubMed Central

    Siân Pincott, E; Burch, M

    2011-01-01

    In this review we have looked at indications for cardiac transplantation in congenital heart disease. An outline of the general principles of the use of transplant as a management strategy both as a first line treatment and following other surgical interventions is discussed. We explore the importance of the timing of patient referral and the evaluations undertaken, and how the results of these may vary between patients with congenital heart disease and patients with other causes of end-stage heart failure. The potential complications associated with patients with congenital heart disease need to be both anticipated and managed appropriately by an experienced team. Timing of transplantation in congenital heart disease is difficult to standardize as the group of patients is heterogeneous. We discuss the role and limitations of investigations such as BNP, 6 minute walk, metabolic exercise testing and self estimated physical functioning. We also discuss the suitability for listing. It is clear that congenital heart patients should not be considered to be at uniform high risk of death at transplant. Morbidity varies greatly in the congenital patient population with the failing Fontan circulation having a far higher risk than a failing Mustard circulation. However the underlying issue of imbalance between donor organ supply and demand needs to be addressed as transplant teams are finding themselves in the increasingly difficult situation of supporting growing numbers of patients with a diverse range of pathologies with declining numbers of donor organs. PMID:22548027

  1. Cerebral glucose metabolic abnormality in patients with congenital scoliosis.

    PubMed

    Park, Weon Wook; Suh, Kuen Tak; Kim, Jeung Il; Ku, Ja Gyung; Lee, Hong Seok; Kim, Seong-Jang; Kim, In-Ju; Kim, Yong-Ki; Lee, Jung Sub

    2008-07-01

    A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography. PMID:18446384

  2. Rubella and congenital rubella (German measles).

    PubMed

    Edlich, Richard F; Winters, Kathryne L; Long, William B; Gubler, K Dean

    2005-01-01

    Rubella, also known as German measles, is usually a very mild infection that can have devastating effects in certain instances. It is a pleomorphic RNA virus in the Togaviridae family of the genus Rubivirus. It typically causes a scarletiniform rash, cervical lymphadenopathy, and mild constitutional symptoms, but in older children and adults, especially women, it may be more severe, with joint involvement and purpuric rash. Infection during the first 12 weeks of pregnancy results in congenital infection and/or miscarriage in 80-90% of cases. The congenital rubella syndrome (CRS) involves multiple organ systems and has a long period of active infection and virus shedding in the postnatal period. For these reasons, the rubella vaccine program was instituted in 1969, and the incidence of rubella infection in the United States has since declined by 99%. Rubella has been recognized as a disease for approximately 200 years, and it has since been found that humans are the only natural reservoir for the rubella virus. Virus is present in nasopharyngeal secretions, blood, feces, and urine during the clinical illness, although patients with subclinical disease are also infectious. The virus is spread via oral droplets and is shed in the nasopharynx for approximately 7 days before and after the rash is visible. CRS includes a configuration of anomalies, including nerve deafness, cataracts, cardiac anomalies (usually pulmonary artery and valvular stenosis, and patent ductus arteriosis), and mental retardation, with late complications including diabetes, thyroid disease, growth hormone deficiency, and progressive panencephalitis. In 1969, the first rubella vaccine was licensed for use, and the Centers for Disease Control and Prevention (CDC) began its National Congenital Rubella Syndrome Registry. As required under the National Childhood Injury Act, all healthcare providers in the United States who administer any vaccine shall, prior to administration of the vaccine, provide a

  3. Multiple congenital ocular anomalies in Icelandic horses

    PubMed Central

    2011-01-01

    Background Multiple congenital ocular anomalies (MCOA) syndrome is a hereditary congenital eye defect that was first described in Silver colored Rocky Mountain horses. The mutation causing this disease is located within a defined chromosomal interval, which also contains the gene and mutation that is associated with the Silver coat color (PMEL17, exon 11). Horses that are homozygous for the disease-causing allele have multiple defects (MCOA-phenotype), whilst the heterozygous horses predominantly have cysts of the iris, ciliary body or retina (Cyst-phenotype). It has been argued that these ocular defects are caused by a recent mutation that is restricted to horses that are related to the Rocky Mountain Horse breed. For that reason we have examined another horse breed, the Icelandic horse, which is historically quite divergent from Rocky Mountain horses. Results We examined 24 Icelandic horses and established that the MCOA syndrome is present in this breed. Four of these horses were categorised as having the MCOA-phenotype and were genotyped as being homozygous for the PMEL17 mutation. The most common clinical signs included megaloglobus, iris stromal hypoplasia, abnormal pectinate ligaments, iridociliary cysts occasionally extending into the peripheral retina and cataracts. The cysts and pectinate ligament abnormalities were observed in the temporal quadrant of the eyes. Fourteen horses were heterozygous for the PMEL17 mutation and were characterized as having the Cyst-phenotype with cysts and occasionally curvilinear streaks in the peripheral retina. Three additional horses were genotyped as PMEL17 heterozygotes, but in these horses we were unable to detect cysts or other forms of anomalies. One eye of a severely vision-impaired 18 month-old stallion, homozygous for the PMEL17 mutation was examined by light microscopy. Redundant duplication of non-pigmented ciliary body epithelium, sometimes forming cysts bulging into the posterior chamber and localized areas of

  4. [Congenital gastrointestinal tract obstructions (pictorial essay)].

    PubMed

    Coşkun, Abdulhakim; Sevinç, Halil

    2004-03-01

    A wide spectrum of congenital anomalies may cause obstruction in the upper and lower gastrointestinal tract. Neonates with complete upper intestinal obstruction do not usually require further radiological evaluation after radiography. Barium studies are sometimes needed. Barium studies and other comprehensive methods such as ultrasonography, computed tomography and magnetic resonance imaging are usually complementary procedures which are not usually helpful and may even delay surgery, resulting in some complications and death. The decision to perform a given imaging examination should be considered carefully to avoid unnecessary radiation exposure to the patient. The diagnosis of low intestinal obstruction is usually apparent at abdominal radiography because of the presence of many dilated loops. The differentiation between ileal and colonic obstruction can be made with a contrast enema study. Dilute ionic, water-soluble contrast agents and non-balloon tip catheter of appropriate size is preferred for neonatal contrast enemas. Barium sulphate suspensions typically should not be used because of their potential to exacerbate the impaction of meconium plugs in meconium ileus, whereas water-soluble enemas can be therapeutic. PMID:15054709

  5. Cardiac findings in congenital muscular dystrophies.

    PubMed

    Finsterer, Josef; Ramaciotti, Claudio; Wang, Ching H; Wahbi, Karim; Rosenthal, David; Duboc, Denis; Melacini, Paola

    2010-09-01

    Cardiac involvement (CI) in congenital muscular dystrophies (CMDs) has been only rarely investigated so far. By means of a systematic literature search we reviewed the literature about CI in CMD and found that CI is apparently absent in Ullrich CMD or CMD with integrin deficiency and only mild in Bethlem CMD. CI in merosin deficiency includes dilated cardiomyopathy and systolic dysfunction. CI in dystroglycanopathies seems most prevalent among all CMDs and includes dilated cardiomyopathy, systolic dysfunction, and myocardial fibrosis in Fukuyama CMD. Among the nonspecified dystroglycanopathies, CI manifests as dilated cardiomyopathy, hypertrophic cardiomyopathy (CMP) or systolic dysfunction. With CMD type 1C, as well as with limb-girdle muscular dystrophy 2I, up to half of the patients develop dilated cardiomyopathy. In rigid-spine syndrome, predominantly the right heart is affected secondary to thoracic deformity. In patients who carry LMNA mutations, CI may manifest as dilated cardiomyopathy, hypertrophic cardiomyopathy, or fatal ventricular arrhythmias. Overall, CI in patients with CMD varies considerably between the different CMD types from absent or mild CI to severe cardiac disease, particularly in merosin deficiency, dystroglycanopathies, and laminopathies. Patients with CMD with CI require regular cardiologic surveillance so that severe, treatable cardiac disease is not overlooked. PMID:20679303

  6. Recent advances in central congenital hypothyroidism.

    PubMed

    Schoenmakers, Nadia; Alatzoglou, Kyriaki S; Chatterjee, V Krishna; Dattani, Mehul T

    2015-12-01

    Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16 000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated neonatal hypothyroidism. Alternatively, coexisting growth hormones or ACTH deficiency may pose additional risks, such as life threatening hypoglycaemia. Genetic ascertainment is possible in a minority of cases and reveals mutations in genes controlling the TSH biosynthetic pathway (TSHB, TRHR, IGSF1) in isolated TSH deficiency, or early (HESX1, LHX3, LHX4, SOX3, OTX2) or late (PROP1, POU1F1) pituitary transcription factors in combined hormone deficits. Since TSH cannot be used as an indicator of euthyroidism, adequacy of treatment can be difficult to monitor due to a paucity of alternative biomarkers. This review will summarize the normal physiology of pituitary development and the hypothalamic-pituitary-thyroid axis, then describe known genetic causes of isolated central hypothyroidism and combined pituitary hormone deficits associated with TSH deficiency. Difficulties in diagnosis and management of these conditions will then be discussed. PMID:26416826

  7. Twin pregnancy in the congenital malformed uterus.

    PubMed

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity. PMID:26757792

  8. Recent advances in central congenital hypothyroidism

    PubMed Central

    Schoenmakers, Nadia; Alatzoglou, Kyriaki S; Chatterjee, V Krishna; Dattani, Mehul T

    2015-01-01

    Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16 000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated neonatal hypothyroidism. Alternatively, coexisting growth hormones or ACTH deficiency may pose additional risks, such as life threatening hypoglycaemia. Genetic ascertainment is possible in a minority of cases and reveals mutations in genes controlling the TSH biosynthetic pathway (TSHB, TRHR, IGSF1) in isolated TSH deficiency, or early (HESX1, LHX3, LHX4, SOX3, OTX2) or late (PROP1, POU1F1) pituitary transcription factors in combined hormone deficits. Since TSH cannot be used as an indicator of euthyroidism, adequacy of treatment can be difficult to monitor due to a paucity of alternative biomarkers. This review will summarize the normal physiology of pituitary development and the hypothalamic–pituitary–thyroid axis, then describe known genetic causes of isolated central hypothyroidism and combined pituitary hormone deficits associated with TSH deficiency. Difficulties in diagnosis and management of these conditions will then be discussed. PMID:26416826

  9. Adult duodenal intussusception associated with congenital malrotation

    PubMed Central

    Gardner-Thorpe, J; Hardwick, RH; Carroll, NR; Gibbs, P; Jamieson, NV; Praseedom, RK

    2007-01-01

    Enteroenteric intussusception is a condition in which full-thickness bowel wall becomes telescoped into the lumen of distal bowel. In adults, there is usually an abnormality acting as a lead point, usually a Meckels' diverticulum, a hamartoma or a tumour. Duodeno-duodenal intussusception is exceptionally rare because the retroperitoneal situation fixes the duodenal wall. The aim of this report is to describe the first published case of this condition. A patient with duodeno-duodenal intussusception secondary to an ampullary lesion is reported. A 66 year-old lady presented with intermittent abdominal pain, weight loss and anaemia. Ultrasound scanning showed dilated bile and pancreatic ducts. CT scanning revealed intussusception involving the full-thickness duodenal wall. The lead point was an ampullary villous adenoma. Congenital partial (type II) malrotation was found at operation and this abnormality permitted excessive mobility of the duodenal wall such that intussusception was possible. This condition can be diagnosed using enhanced CT. Intussusception can be complicated by bowel obstruction, ischaemia or bleeding, and therefore the underlying cause should be treated as soon as possible. PMID:17657849

  10. Congenital polyalveolar lobe in three foals.

    PubMed

    Hong, C B

    1996-07-01

    Three cases of congenital polyalveolar lobe (pulmonary hamartoma) were diagnosed in female Thoroughbred foals. Foal 1 was born at full term but died shortly afterwards. Foal 2 was aborted at the seventh month of gestation. Parturition was induced at the tenth month of gestation in foal 3 because it developed hydrops of the amnion and ascites. In all three foals, the polyalveolar lobe occurred on the right side and affected the entire right lung. In each case, the right lung formed a tumour-like mass, and expanded into the left chest cavity. The lung masses were pink to dark red and spongy to rubbery, with marked lobular patterns on the pleural and cut surfaces. The left lung was compressed and small. The right and left lungs weighed 0.9-6.3 kg and 80 g-0.3 kg, respectively. Microscopically, the polyalveolar lobe consisted of normal alveoli, bronchioli and blood vessels, but the alveolus:artery ratio was greater than normal. In the polyalveolar lobe of two foals the numbers of alveoli per artery were 65.2 and 52.5; in contrast, the corresponding values for three control lungs were 26.9, 26.5 and 27.6. Chronic passive congestion with generalized oedema was observed in foals 2 and 3. PMID:8878754

  11. Amaurosis fugax associated with congenital vascular defect

    PubMed Central

    Giltner, John W; Thomas, Edward R; Rundell, William K

    2016-01-01

    A 68-year-old female with no significant past medical history presented with loss of vision in the lower half of her left eye that lasted <5 minutes. No abnormalities were found on ocular or physical exam. Computed tomography angiography and carotid ultrasound were performed, which confirmed the diagnosis as amaurosis fugax with two abnormalities leading to the transient retinal vessel occlusion. First, it was found that the patient has a congenital vascular anomaly, which consisted most notably of a right-sided aortic arch. This vascular anomaly also consisted of abnormal branching of the left subclavian and common carotid arteries, predisposing the patient to turbulent blood flow and increased risk of the formation of an atherosclerotic plaque at the origin of the common carotid artery. This is an abnormal location for a plaque leading to amaurosis fugax compared to the most common location at the carotid bifurcation. Endarterectomy was not performed because of the difficult location of the plaque and tortuosity of the vessel. Rather, medical intervention with antiplatelet and lipid-lowering therapy was initiated to lower the risk of future retinal or cerebral thromboembolic events. PMID:27445507

  12. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

    PubMed Central

    Cuhaci, Neslihan; Aydın, Cevdet; Yesilyurt, Ahmet; Pınarlı, Ferda Alpaslan; Ersoy, Reyhan; Cakir, Bekir

    2015-01-01

    Objective. The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase (21-OH) deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH) are usually asymptomatic at birth and typically present in late childhood, adolescence, or adulthood with symptoms of excessive androgen secretion. Subfertility is relative in NC-CAH, but the incidence of spontaneous miscarriage is higher. Here, we report a previously undiagnosed female who gave birth to a normal male child and is planning to become pregnant again. Case Report. A 32-year-old female was referred to our clinic for obesity. Her medical history revealed that she had had three pregnancies. She was planning to become pregnant again. Her laboratory results revealed that she had NC-CAH. Since her husband is the son of her aunt and she had miscarriages and intrauterin exitus in her history, their genetic analyses were performed. Conclusion. Since most patients with NC-CAH have a severe mutation, these patients may give birth to a child with the classical CAH (C-CAH) if their partner is also carrying a severe mutation. Females with NC-CAH who desire pregnancy must be aware of the risk of having an infant with C-CAH. PMID:26558116

  13. Congenital muscular dystrophy with inflammation: Diagnostic considerations

    PubMed Central

    Konkay, Kaumudi; Kannan, Meena Angamuthu; Lingappa, Lokesh; Uppin, Megha S.; Challa, Sundaram

    2016-01-01

    Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α2 deficiency on immunohistochemistry (IHC). Material and Methods: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E), enzyme and immunohistochemistry (IHC) with laminin α2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α2 deficiency. Results: There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α2 was available in nine patients, of which six showed complete absence along sarcolemma (five presented with floppy infant syndrome and one with delayed motor milestones) and three showed discontinuous, and less intense staining. Conclusions: CMD show variable degrees of inflammation on muscle biopsy. A diagnosis of laminin α2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones. PMID:27570388

  14. Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis

    PubMed Central

    Santos-Silva, R.; Falcão-Reis, F.; Rocha-Sousa, A.

    2014-01-01

    Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, anterior chamber of the eye, lens, and the posterior segment with presence of optic nerve and foveal hypoplasia is also evident. The development of keratopathy, glaucoma, and cataract is frequent and its presence has implications in the patient's visual acuity. Managing aniridia is challenging since the focus is on treating the previously mentioned disorders, and the outcomes are often disappointing. In this paper, we shall review the epidemiology, pathophysiology, and clinical characteristics of patients with aniridia. We shall also make a review of the therapeutic options for the several conditions affecting this syndrome and consider the genetics and prognostic factors. PMID:27355034

  15. Congenital fibrosis of the extraocular muscles.

    PubMed Central

    Harley, R D; Rodrigues, M M; Crawford, J S

    1978-01-01

    Congential fibrosis of the extraocular muscles is characterized by the replacement of normal contractile muscle tissue by fibrous tissue or fibrous bands in varying degrees. The clinical entities which result from the fibrous replacement can be classified under the following headings: general fibrosis syndrome, congenital fibrosis of the inferior rectus muscle with blepharoptosis, strabismus fixus, vertical retraction syndrome and congential unilateral fibrosis, enophthalmos and blepharoptosis. Genetic factors may or may not be apparent. One pedigree with general fibrosis syndrome was traced through five generations. Light and electron microscopy demonstrated replacement of normal muscle by collagen and dense fibrous tissue with occasional areas of degenerated skeletal muscle. The surgical mangement attempts to achieve some functional readjustment of the ocular and lid position as well as the abnormal head posture. The surgical results were considered satisfactory when compared with the original position of the eyes and the backward head tilt. Images FIGURE 1 A FIGURE 1 B FIGURE 1 C FIGURE 2 A FIGURE 2 B FIGURE 2 C FIGURE 3 A FIGURE 3 B FIGURE 4 FIGURE 5 FIGURE 6 FIGURE 7 A FIGURE 7 B FIGURE 7 C FIGURE 8 A FIGURE 8 B FIGURE 9 A FIGURE 9 B FIGURE 9 C FIGURE 9 D PMID:754372

  16. A case of congenital lipoid adrenal hyperplasia.

    PubMed

    Hashemipour, Mahin; Ghasemi, Mahmoud; Hovsepian, Silva

    2012-07-01

    Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte abnormalities. Considering the clinical and biochemical findings, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid and mineralocorticoid and sodium chloride was initiated. During follow-up, she had good clinical condition, but at 6 years of age, she refers with hypertension and adrenal insufficiency because of arbitrary drug discontinuation by mother. In ultrasonography an abdominal mass (the testicles) was reported. Chromosome study showed 46XY pattern. Orchiectomy was performed. We recommended that in cases with clinical presentation of adrenal insufficiency if there is not the facility to determine the karyotype, repeated ultrasonography perform during follow-up. In addition, investigating the genetic bases of the disorder would help us to determine the pathogenesis of lipoid CAH in our community. It would be helpful in prenatal diagnosis and treatment of the disorder to prevent its related comorbidities. PMID:22891154

  17. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    PubMed

    Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

    2016-01-01

    A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. PMID:26683339

  18. Congenital muscular dystrophy: from muscle to brain.

    PubMed

    Falsaperla, Raffaele; Praticò, Andrea D; Ruggieri, Martino; Parano, Enrico; Rizzo, Renata; Corsello, Giovanni; Vitaliti, Giovanna; Pavone, Piero

    2016-01-01

    Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis.In this article, the Authors report on CMDs belonging to the group of dystroglycanopathies and in particular on the most severe forms represented by the Fukuyama CMD, Muscle-Eye-Brain disease and Walker Walburg syndrome.Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures at this early age.The diagnostic evaluation is not easy mainly in differentiating the various types of CMDs, and represents a challenge for the neonatologists and pediatricians. Suggestions are reported on the way to reach a correct diagnosis with the appropriate use of the diagnostic means. PMID:27576556

  19. Walking dreams in congenital and acquired paraplegia.

    PubMed

    Saurat, Marie-Thérèse; Agbakou, Maité; Attigui, Patricia; Golmard, Jean-Louis; Arnulf, Isabelle

    2011-12-01

    To test if dreams contain remote or never-experienced motor skills, we collected during 6 weeks dream reports from 15 paraplegics and 15 healthy subjects. In 9/10 subjects with spinal cord injury and in 5/5 with congenital paraplegia, voluntary leg movements were reported during dream, including feelings of walking (46%), running (8.6%), dancing (8%), standing up (6.3%), bicycling (6.3%), and practicing sports (skiing, playing basketball, swimming). Paraplegia patients experienced walking dreams (38.2%) just as often as controls (28.7%). There was no correlation between the frequency of walking dreams and the duration of paraplegia. In contrast, patients were rarely paraplegic in dreams. Subjects who had never walked or stopped walking 4-64 years prior to this study still experience walking in their dreams, suggesting that a cerebral walking program, either genetic or more probably developed via mirror neurons (activated when observing others performing an action) is reactivated during sleep. PMID:21704532

  20. [Adult patients with congenital heart disease].

    PubMed

    Grabitz, R G; Kaemmerer, H; Mohr, F-W

    2013-01-01

    Unlike a few decades ago, today most patients with congenital heart disease reach adulthood after intervention or reparative surgery. As complete correction is generally not possible, a patient population with great complexity and a particular challenge to medical management is rising and a regular follow-up is mandatory. The aim of care is the timely recognition of residual or associated problems. Frequency and intensity of follow-up examinations depend on type and complexity of the lesion. The standard repertoire at follow-up consists of a specific history, clinical examination, ECG, Holter-monitoring, exercise tests, and echocardiography. Depending on the indication, cardio-MRI, CT scan, and sophisticated cardiac catheterization may become necessary. Long-term complications like rhythm disturbances, pulmonary hypertension, or heart failure are frequent, despite optimal care. Acute complications like arrhythmias, infective endocarditis, cerebral events, cerebral abscesses, aortic dissection, pulmonary embolism, and bleeding have to be recognized early and treated appropriately. Additional focus has to be placed on counseling and management of noncardiac disease and surgery, pregnancy and delivery, exercise at work and in private life, driving, and insurance issues. Training and certification of physicians as well as the establishment of specialized centers will help to ensure high quality health care for the affected patient population. PMID:23318541

  1. Nifedipine in Congenital Hyperinsulinism - A Case Report.

    PubMed

    Khawash, Papiya; Hussain, Khalid; Flanagan, Sarah E; Chatterjee, Sudip; Basak, Dhananjoy

    2015-06-01

    Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diazoxide is the first-line drug in its treatment, but the more severe cases are usually diazoxide-resistant. Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI. Oral nifedipine has been effective in isolated cases of CHI. Successful treatment of diazoxide-unresponsive CHI with a combination of octreotide and nifedipine has been reported in a single isolated case so far. We report here a case of diazoxide-resistant CHI due to homozygous ABCC8 nonsense mutation. In this case, hypoglycaemia uncontrolled by pancreatectomy and octreotide alone showed a good response to a combination of nifedipine and octreotide. Octreotide was tapered off by one year age and thereafter the child is euglycaemic on oral nifedipine alone. Continuous glucose monitoring sensor was used as an aid to monitor glycaemic control and was found to be a safe and reliable option reducing the number of needle-pricks in small children. PMID:26316440

  2. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    PubMed Central

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

  3. Prevention of congenital abnormalities by periconceptional multivitamin supplementation.

    PubMed Central

    Czeizel, A E

    1993-01-01

    OBJECTIVE--To study the effect of periconceptional multivitamin supplementation on neural tube defects and other congenital abnormality entities. DESIGN--Randomised controlled trial of supplementation with multivitamins and trace elements. SETTING--Hungarian family planning programme. SUBJECTS--4156 pregnancies with known outcome and 3713 infants evaluated in the eighth month of life. INTERVENTIONS--A single tablet of a multivitamin including 0.8 mg of folic acid or trace elements supplement daily for at least one month before conception and at least two months after conception. MAIN OUTCOME MEASURES--Number of major and mild congenital abnormalities. RESULTS--The rate of all major congenital abnormalities was significantly lower in the group given vitamins than in the group given trace elements and this difference cannot be explained totally by the significant reduction of neural tube defects. The rate of major congenital abnormalities other than neural tube defects and genetic syndromes was 9.0/1000 in pregnancies with known outcome in the vitamin group and 16.6/1000 in the trace element group; relative risk 1.85 (95% confidence interval 1.02 to 3.38); difference, 7.6/1000. The rate of all major congenital abnormalities other than neural tube defects and genetic syndromes diagnosed up to the eighth month of life was 14.7/1000 informative pregnancies in the vitamin group and 28.3/1000 in the trace element group; relative risk 1.95 (1.23 to 3.09); difference, 13.6/1000. The rate of some congenital abnormalities was lower in the vitamin group than in the trace element group but the differences for each group of abnormalities were not significant. CONCLUSIONS--Periconceptional multivitamin supplementation can reduce not only the rate of neural tube defects but also the rate of other major non-genetic syndromatic congenital abnormalities. Further studies are needed to differentiate the chance effect and vitamin dependent effect. PMID:8324432

  4. Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

    PubMed

    Mantelli, Flavio; Nardella, Chiara; Tiberi, Eloisa; Sacchetti, Marta; Bruscolini, Alice; Lambiase, Alessandro

    2015-01-01

    Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK. PMID:26451380

  5. Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

    PubMed Central

    Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

    2013-01-01

    Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

  6. Enhanced chemosensory detection of negative emotions in congenital blindness.

    PubMed

    Iversen, Katrine D; Ptito, Maurice; Møller, Per; Kupers, Ron

    2015-01-01

    It is generally acknowledged that congenitally blind individuals develop superior sensory abilities in order to compensate for their lack of vision. Substantial research has been done on somatosensory and auditory sensory information processing of the blind. However, relatively little information is available about compensatory plasticity in the olfactory domain. Although previous studies indicate that blind individuals have superior olfactory abilities, no studies so far have investigated their sense of smell in relation to social and affective communication. The current study compares congenitally blind and normal sighted individuals in their ability to discriminate and identify emotions from body odours. A group of 14 congenitally blind and 14 age- and sex-matched sighted control subjects participated in the study. We compared participants' abilities to detect and identify by smelling sweat from donors who had been watching excerpts from emotional movies showing amusement, fear, disgust, or sexual arousal. Our results show that congenitally blind subjects outperformed sighted controls in identifying fear from male donors. In addition, there was a strong tendency that blind individuals were also better in detecting disgust. Our findings reveal that congenitally blind individuals are better at identifying ecologically important emotions and provide new insights into the mechanisms of social and affective communication in blindness. PMID:25878902

  7. Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

    PubMed Central

    Mantelli, Flavio; Nardella, Chiara; Tiberi, Eloisa; Sacchetti, Marta; Bruscolini, Alice; Lambiase, Alessandro

    2015-01-01

    Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK. PMID:26451380

  8. MicroRNAs in congenital heart disease

    PubMed Central

    Smith, Tanya; Rajakaruna, Cha; Caputo, Massimo

    2015-01-01

    Congenital heart disease (CHD) is a broad term which encompasses a spectrum of pathology, the most common phenotypes include atrial septal defects (ASDs), ventricular septal defects (VSDs), patent ductus arteriosus (PAD) and tetralogy of Fallot (TOF). The impact of CHD is profound and it is estimated to be responsible for over 40% of prenatal deaths. MicroRNAs (miRs) are small, highly conserved, non-coding RNAs which have complex roles in a variety of pathophysiological states. miRs are post-transcriptional negative regulators of gene expression. Individual miRs are known to exert effects in multiple target genes, therefore the altered expression of a single miR could influence an entire gene network resulting in complex pathological states. Recent evidences suggest a role in the dysregulation of miRs in CHD. Mouse knock out models have contributed to our knowledge base revealing specific patterns of miR expression in cardiovascular physiology and pathological states. Specific miRs necessary for embryonic cardiac development have been revealed. Dysregulation of these miRs has been shown to cause structural abnormalities in the heart and vasculature, thus furthering our understanding of the processes which result in CHD. These advances have provided new insight into the signalling pathways responsible for CHD. Furthermore, this new appreciation for miRs in the development of CHD has uncovered their potential for new therapeutic targets where modulated miR activity may reduce the burden of disease. Here, we summarize current knowledge of the cause-effect relationships of miRs in CHD and consider their potential as a therapeutic targets and biomarkers in this clinical setting. PMID:26734643

  9. Cancerous leptomeningitis and familial congenital hypopituitarism.

    PubMed

    Vujovic, S; Vujosevic, S; Kavaric, S; Sopta, J; Ivovic, M; Saveanu, A; Brue, T; Korbonits, M; Popovic, V

    2016-05-01

    People are at higher risk of cancer as they get older or have a strong family history of cancer. The potential influence of environmental and behavioral factors remains poorly understood. Earlier population and case control studies reported that upper quartile of circulating IGF-I is associated with a higher risk of developing cancer suggesting possible involvement of the growth hormone (GH)/IGF system in initiation or progression of cancer. Since GH therapy increases IGF-1 levels, there have been concerns that GH therapy in hypopituitarism might increase the risk of cancer. We report a 42-year-old female patient who presented with subacute onset of symptoms of meningitis and with the absence of fever which resulted in death 70 days after the onset of symptoms. The patient together with her younger brother was diagnosed at the age of 5 years with familial congenital hypopituitarism, due to homozygous mutation c.150delA in PROP1 gene. Due to evolving hypopituitarism, she was replaced with thyroxine (from age 5), hydrocortisone (from age 13), GH (from age 13 until 17), and sex steroids in adolescence and adulthood. Her consanguineous family has a prominent history of malignant diseases. Six close relatives had malignant disease including her late maternal aunt with breast cancer. BRCA 1 and BRCA 2 mutational analysis in the patient's mother was negative. Histology after autopsy disclosed advanced ovarian cancer with multiple metastases to the brain, leptomeninges, lungs, heart, and adrenals. Low circulating IGF-1 did not seem to protect this patient from cancer initiation and progression in the context of strong family history of malignancies. PMID:26886902

  10. [Congenital prosopagnosia: symptoms, cognition, and neural correlates].

    PubMed

    Iidaka, Tetsuya

    2014-04-01

    Congenital prosopagnosia (CP) refers to lifelong and severe impairment of face processing, which is apparent from birth, despite intact visual and intellectual abilities. Usually, individuals with CP do not exhibit brain lesions or neurological disorders that account for their specific impairment. An epidemiological survey revealed that the prevalence rate of CP was approximately 2.5% in a young Caucasian population. CP frequently runs in families, suggesting a genetic component in this disturbance. Detailed neuropsychological investigations demonstrated that individuals with CP show reduced performance in face tasks including famous face recognition, face matching, and encoding/retrieval of novel faces. In contrast, they can judge facial expression and eye gaze almost as well as healthy controls. These results suggest an impairment of holistic processing of faces in individuals with CP. Neurophysiological investigation using ERP showed that individuals with CP, as a group, had reduced voltage of the N170 component, which is a hallmark of face processing in the temporal lobe. However, there were large variations in the results of N170 among individuals with CP. Structural MRI showed that the impairments could be due to reduced volume of grey matter and microstructure of white matter in a part of the temporal lobe. Studies using fMRI and face tasks revealed mixed results with regard to face-selective activation in the fusiform gyrus. These findings indicate the heterogeneity of CP, and further investigation is needed to clarify neurodevelopmental substrates of face processing. Results from normative data obtained using the Japanese version of a questionnaire for screening of hereditary prosopagnosia is presented. PMID:24748088

  11. Delayed presentation of congenital diaphragmatic hernia.

    PubMed

    Numanoglu, A; Steiner, Z; Millar, A; Cywes, S

    1997-05-01

    Patients with congenital diaphragmatic hernias (CDH) usually present soon after birth with respiratory distress. Occasionally presentation is delayed. Twelve patients with delayed presentation (outside the neonatal period) of a total of 91 with CHD were seen over 17 years (1977-1994). Case records were reviewed to identify reasons for late presentation, evidence of morbidity, treatment and outcome. Age at presentation ranged from 6 weeks to 30 months (mean 8 months). Ten patients were aged 6 months or younger and there was an equal number of boys and girls. Seven cases were left-sided, 4 right-sided and 1 was anteriorly placed and bilateral. Ten patients presented acutely, 5 with small-bowel obstruction and 5 with respiratory distress, but all of the latter had a history of previous recurrent chest infection. Diagnosis was confirmed by radiographic examination of the chest in 10, barium meal in 1 and a 5-month-old patient had an inappropriate laparotomy and gastrojejunostomy for duodenal obstruction at an outlying hospital. Two had documented normal chest radiographs 3 and 6 months prior to diagnosis. Patients who presented with gastro-intestinal symptoms were older (mean age 1 year) compared with those with predominantly respiratory symptoms (mean age 19 weeks). None had any evidence of bowel strangulation. All were repaired via an abdominal approach. A hernial sac was found in half the cases (4/7 left and 2/5 right). Five had non-rotation of bowel. Primary repair without patch was carried out in all. One child with lung hypoplasia and multiple cardiac abnormalities died; the others recovered well. Delay in presentation of CDH is not uncommon (14% in this series). Most patients will have respiratory symptoms. A normal previous chest radiograph does not exclude the diagnosis. All patients with recurrent chest infection should have a contrast meal investigation early on. Long-term prognosis is favourable and postoperative morbidity is minimal, despite late

  12. Statins and congenital malformations: cohort study

    PubMed Central

    Hernandez-Diaz, Sonia; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Franklin, Jessica M; Desai, Rishi J; Allen-Coleman, Cora; Mogun, Helen; Avorn, Jerry; Huybrechts, Krista F

    2015-01-01

    Objective To examine the teratogenic potential of statins. Design Cohort study. Setting United States. Participants A cohort of 886 996 completed pregnancies linked to liveborn infants of women enrolled in Medicaid from 2000 to 2007. Methods We examined the risk of major congenital malformations and organ specific malformations in offspring associated with maternal use of a statin in the first trimester. Propensity score based methods were used to control for potential confounders, including maternal demographic characteristics, obstetric and medical conditions, and use of other drugs. Results 1152 (0.13%) women used a statin during the first trimester. In unadjusted analyses, the prevalence of malformations in the offspring of these women was 6.34% compared with 3.55% in those of women who did not use a statin in the first trimester (relative risk 1.79, 95% confidence interval 1.43 to 2.23). Controlling for confounders, particularly pre-existing diabetes, accounted for this increase in risk (1.07, 0.85 to 1.37). There were also no statistically significant increases in any of the organ specific malformations assessed after accounting for confounders. Results were similar across a range of sensitivity analyses. Conclusions Our analysis did not find a significant teratogenic effect from maternal use of statins in the first trimester. However, these findings need to be replicated in other large studies, and the long term effects of in utero exposure to statins needs to be assessed, before use of statins in pregnancy can be considered safe. PMID:25784688

  13. Experimental congenital syphilis: guinea pig model.

    PubMed Central

    Wicher, K; Baughn, R E; Wicher, V; Nakeeb, S

    1992-01-01

    Neonates born to female guinea pigs of either a highly susceptible (C4D) or a resistant (Albany) strain, infected prior to or during pregnancy with a single dose of Treponema pallidum, showed in their sera from the first day of life immunoglobulin M (IgM) antibodies to T. pallidum, circulating immune complexes consisting of IgM antibodies and treponemal antigens, and IgM rheumatoid factor. Although the animals were asymptomatic for a 6-month observation period, several lines of evidence indicated that they were infected in utero. Molecular analysis of whole sera, purified serum IgM fraction, or dissociated immune complexes demonstrated IgM reactivity against one (47 kDa) or more of several T. pallidum peptides (15, 17, 37, 42, 45, and 87 kDa) recognized as integral membrane components. Sequential analysis of the neonates' sera by immunoblot and enzyme-linked immunosorbent assay, using alcohol-treated T. pallidum, T. phagedenis biotype Reiter, and T. vincentii, demonstrated early IgM antibodies followed 3 to 4 months later by IgG2- and IgG1-specific antibodies to T. pallidum. Moreover, an infectivity test done in five rabbits with pooled tissue extracts prepared from liveborn or stillborn animals evoked a seroconversion in two rabbits (reactive Venereal Disease Research Laboratory and fluorescent treponemal antibody tests), suggesting the presence of T. pallidum in the organs. Sera from neonates born to either T. phagedenis biotype Reiter-injected mothers or three normal pregnant females were all serologically negative. The model offers new possibilities for exploration of factors responsible for asymptomatic infection often observed in human congenital syphilis. Images PMID:1729190

  14. A case of congenital central hypoventilation syndrome.

    PubMed

    Kameyama, Yoshinobu; Wagatsuma, Toshihiro; Nakamura, Miho; Kurosawa, Shin; Saito, Koji; Hoshi, Kunihiko

    2012-12-01

    We encountered a 2-year-old female infant with congenital central hypoventilation syndrome (CCHS) who underwent an abdominal operation for strangulated ileus. Prior to the surgery, at home, the infant had been receiving non-invasive positive-pressure ventilation (NPPV) support only during sleep. However, after postoperative extubation, the blood oxygen saturation (SpO(2)) decreased to approximately 90 % with NPPV during sleep alone, necessitating the use of biphasic cuirass ventilation (BCV) along with NPPV for 2 days. The infant was weaned from the BCV on hospital day 9, and was discharged from the intensive care unit (ICU) on hospital day 13. Although it has been said that CCHS is not under the control of the respiratory center, there are no reports of the true CO(2) response curves in these patients. Therefore, during respiratory management in the ICU post-surgery, we examined (with the consent of the mother) the relationship of the end-tidal carbon dioxide (ETCO(2)) to the tidal volume and respiratory rate, for a period of 6 min in the absence of sedation, using a respiratory profile monitor. Electrocardiographic and SpO(2) monitoring was also conducted at the same time, to ensure the patient's safety. In this patient, while the ETCO(2) increased, the tidal volume and respiratory rate remained unchanged. No relationship was found between the tidal volume and the respiratory rate. Various modalities have been used for the treatment of CCHS (tracheotomy, NPPV, and diaphragmatic pacing). Treatment of these patients in the ICU should be tailored to the needs of individual patients and their families. PMID:22790414

  15. Congenital bronchial atresia: diagnosis and treatment.

    PubMed

    Wang, Yuqi; Dai, Weimin; Sun, Yu'e; Chu, Xiangyang; Yang, Bo; Zhao, Ming

    2012-01-01

    This study aimed to retrospectively summarize the clinical signs, diagnosis, and treatment of congenital bronchial atresia (CBA) in 12 patients. Chest radiographs and computed tomographic (CT) images of 12 patients with CBA treated in the Chinese People's Liberation Army General Hospital were reviewed. Analysis of chest radiographs revealed ten patients had hilar mass-like shadows and two had pneumonia-like shadows; most patients (n = 8) showed hyperlucency of the peripheral lung fields. CT revealed a mucocele in all the patients (n = 12); the mucoceles were round in four patients and club-like in eight. In 80% of the cases (n = 10), associated anomalies, including occlusions of the bronchus central to the mucocele, emphysematous changes of the peripheral lung fields, bronchogenic cyst, and anomalous branching of the bronchial tree and vascular structure were observed. CBA was detected in the right lobe in eight patients and the left lobe in the remaining four. No surgical intervention was performed in 5 CBA patients and the remaining 7 patients underwent surgery, including lobectomy in 5 patients and local resection in 2 patients. Among these 7 patients, 3 had a preoperative diagnosis of malignant disease, and the remaining 4 had severe clinical symptoms that could not be effectively treated by medicines. All patients were followed up, and none experienced obvious discomfort. CBA is a relatively rare and benign malformation disease. Chest CT is the procedure of choice for diagnosis. The presence of a bronchocele and surrounding emphysematous changes are typical radiologic findings in CBA. Surgery should be reserved only for patients with serious complications secondary to the atretic bronchus. PMID:22408569

  16. Congenital Bronchial Atresia: Diagnosis and Treatment

    PubMed Central

    Wang, Yuqi; Dai, Weimin; Sun, Yu'e; Chu, Xiangyang; Yang, Bo; Zhao, Ming

    2012-01-01

    This study aimed to retrospectively summarize the clinical signs, diagnosis, and treatment of congenital bronchial atresia (CBA) in 12 patients. Chest radiographs and computed tomographic (CT) images of 12 patients with CBA treated in the Chinese People's Liberation Army General Hospital were reviewed. Analysis of chest radiographs revealed ten patients had hilar mass-like shadows and two had pneumonia-like shadows; most patients (n = 8) showed hyperlucency of the peripheral lung fields. CT revealed a mucocele in all the patients (n = 12); the mucoceles were round in four patients and club-like in eight. In 80% of the cases (n = 10), associated anomalies, including occlusions of the bronchus central to the mucocele, emphysematous changes of the peripheral lung fields, bronchogenic cyst, and anomalous branching of the bronchial tree and vascular structure were observed. CBA was detected in the right lobe in eight patients and the left lobe in the remaining four. No surgical intervention was performed in 5 CBA patients and the remaining 7 patients underwent surgery, including lobectomy in 5 patients and local resection in 2 patients. Among these 7 patients, 3 had a preoperative diagnosis of malignant disease, and the remaining 4 had severe clinical symptoms that could not be effectively treated by medicines. All patients were followed up, and none experienced obvious discomfort. CBA is a relatively rare and benign malformation disease. Chest CT is the procedure of choice for diagnosis. The presence of a bronchocele and surrounding emphysematous changes are typical radiologic findings in CBA. Surgery should be reserved only for patients with serious complications secondary to the atretic bronchus. PMID:22408569

  17. Magnetic resonance spectroscopy in congenital heart disease.

    PubMed Central

    Miall-Allen, V. M.; Kemp, G. J.; Rajagopalan, B.; Taylor, D. J.; Radda, G. K.; Haworth, S. G.

    1996-01-01

    OBJECTIVE: To determine the feasibility of studying myocardial and skeletal muscle bioenergetics using 31P magnetic resonance spectroscopy (MRS) in babies and young children with congenital heart disease. SUBJECTS: 16 control subjects aged 5 months to 24 years and 18 patients with CHD, aged 7 months to 23 years, of whom 11 had cyanotic CHD, five had cardiac failure, and two had had a Senning procedure. DESIGN: 31P MRS was carried out using a 1.9 Tesla horizontal 65 cm bore whole body magnet to study the myocardium in 10 patients and skeletal muscle (gastrocnemius) in 14 patients, eight of whom were exercised, together with appropriate controls. RESULTS: In hypoxaemic patients, in skeletal muscle at rest intracellular pH (pHi) was abnormally high [7.06 (SEM 0.04) v 7.04 (0.05), P < 0.01] and showed a positive correlation with haemoglobin (P < 0.03). On exercise, hypoxaemic patients fatigued more quickly but end-exercise pHi and phosphocreatine recovery were normal, implying that an equivalent but smaller amount of work had been performed. End-exercise ADP concentration was lower. On recovery, the initial rate of phosphocreatine resynthesis was low. Skeletal muscle bioenergetics were within normal limits in those in heart failure. In the myocardium, the phosphocreatine/ATP ratio was similar in controls and hypoxaemic subjects, but low in those in heart failure. CONCLUSIONS: In heart failure, the myocardial phosphocreatine/ATP ratio was reduced, as in adults, while resting skeletal muscle studies were normal. By contrast, hypoxaemic children had normal myocardial bioenergetics, but showed skeletal muscle alkalinity, and energy reserves were more readily depleted on exercise. On recovery, the initially slow phosphocreatine resynthesis rate reflects a low rate of mitochondrial ATP synthesis, probably due to an inadequate oxygen supply. 31P MRS offers a safe, non-invasive method of studying myocardial and skeletal muscle bioenergetics in children as young as 5 months

  18. Amplatzer vascular plugs in congenital cardiovascular malformations

    PubMed Central

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

  19. Congenital melanocytic nevus: two clinicopathological forms.

    PubMed

    Magaña, Mario; Sánchez-Romero, Elizabeth; Magaña, Pablo; Beck-Magaña, Andrés; Magaña-Lozano, Mario

    2015-01-01

    Congenital melanocytic nevus (CMN) is a hamartomatous disease for which many attempts at classification have been proposed. This disease is relevant not only because of its functional and esthetic implications but also because it is a well-documented precursor to malignant melanoma. We performed a clinical and pathological prospective study of 200 cases of CMN and were able to identify 2 different forms of CMN, each one with biological, clinical, and histopathological features and criteria that are consistent and repeatable. We propose to name them types I and II. Type I CMN is the most common, usually, if not always, a single lesion, it consists of a plaque that involves only 1 anatomic region and does not go beyond it; type I CNM grows in proportion to the growth of the child, melanoma rarely develops from it, and when it does it usually arises at the dermoepidermal junction. Its histopathology shows cords, strands, nests, and single units of melanocytes spreading between collagen bundles only in the dermis and frequently the epidermis too, but without trespassing to the hypodermis, that is, it is superficial. Type II CMN is always made up of many lesions, one of them being very large and surrounded by many lesions; histopathologically, it involves not only the skin but also deeper structures, sometimes bone and central nervous system; therefore, it is deep; when melanoma develops, it does in the dermal component and usually from the largest plaque. This type of CMN is the one that develops neurocutaneous melanocytosis. This system is not only easy and logical but it also has biologic advantages and the clinical-pathological correlation and criteria are repeatable by clinicians and pathologists. PMID:25140664

  20. A Case of Congenital Malignant Spinal Cord Glioma as a Cause of Congenital Ascites in a Neonate.

    PubMed

    Karber, Bianca; Omesi, Lenore; Chang, Sunny; Handel, Andrew; Hegedus, Monica; Maduekwe, Echezona

    2016-01-01

    Congenital ascites is rare, but when it occurs, urinary ascites secondary to posterior urethral valve obstruction is the most common, and tumors are the least. Among the tumors in the pediatric population, the central nervous system tumors are common, but spinal cord tumors are rare. We describe a very rare case of congenital malignant spinal cord glioma presenting as isolated congenital ascites secondary to neurogenic bladder. A female infant was diagnosed sonographically with isolated congenital ascites at 40 weeks' gestational age, with uneventful development prior to 40 weeks' gestational age. Magnetic resonance imaging of the spine done within the first week of life identified a lobulated spinal mass with heterogeneous enhancement within the conus medullaris. Spinal fluid analysis showed evidence of small round blue cells and the pathology from the excision biopsy of the mass confirmed a WHO grade III or IV malignant glioma. The postoperative course was uneventful with resolution of the ascites and spontaneous micturition. The patient was discharged home without an indwelling urinary catheter. We report the first documented case of a newborn infant with isolated congenital ascites from neurogenic bladder secondary to a spinal cord glioma. PMID:27597917