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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. 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

  12. 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

  13. 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

  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 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 ...

  1. 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. ...

  2. 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.

  3. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin. PMID:27076244

  4. 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 ...

  5. 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; ...

  6. 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 ...

  7. 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

  8. 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

  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 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

  11. 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…

  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. 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

  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. 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

  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. 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 ...

  20. 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

  1. 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

  2. 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

  3. 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

  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. 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 © ...

  1. 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 ...

  2. 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 ...

  3. 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 ...

  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 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

  7. 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

  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 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.

  11. 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 ...

  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. 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 ...

  15. 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 ...

  16. 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: ...

  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. 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 ...

  1. 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/ ...

  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 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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 ...

  11. 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

  12. 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

  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. 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

  17. 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

  18. 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

  19. 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

  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 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

  8. 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

  9. 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

  10. [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

  11. 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

  12. 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

  13. 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

  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. [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

  17. [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

  18. 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

  19. 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

  20. [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

  1. [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

  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 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

  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 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.

  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 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. [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

  15. [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

  16. 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

  17. [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

  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. 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 ...

  2. 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: ...

  3. 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 ...

  4. 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: ...

  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. [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

  18. 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

  19. 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.

  20. [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

  1. 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

  2. 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

  3. [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

  4. 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

  5. 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

  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. 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

  12. 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

  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. 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

  20. 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

  1. 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

  2. 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

  3. 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

  4. 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 ...

  5. 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

  6. 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)

  7. 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

  8. 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 ...

  9. 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 ...

  10. 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 ...

  11. 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 ...

  12. 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

  13. 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...

  14. 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 ...

  15. 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 ...

  16. 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 ...

  17. 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

  18. 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

  19. 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 ...

  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. 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

  3. 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

  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