Results 21 to 30 of about 10,163 (166)
Frontiers in Genetics, 2020 Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog (SHH) regulatory ...
Lijing Shi +13 more
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Jurnal Rekonstruksi dan Estetik, 2018 Highlights: • Complex syndactyly reconstruction presents surgical challenges, often resulting in rotational, angular, and nail deformities post-surgery.
Diana Murtiati Kusuma +3 more
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Case Report of Bilateral 3-4 Metatarsal Syndactyly in a Pet Rabbit
Case Reports in Veterinary Medicine, 2016 We report the first case of spontaneous syndactyly reported in a pet rabbit. Syndactyly only caused an atypical gait in the rabbit. The radiological study revealed bilateral 3rd and 4th metatarsal bones fused in its entire length preserving normal joint ...
M. Gallego, L. Avedillo
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Intraoperative tissue expansion as an alternative approach for hand syndactyly management to avoid skin grafts in children [PDF]
Vojnosanitetski Pregled, 2018 Background/Aim. A great number of syndactyly release techniques have been described over last two centuries. The aim of our study is outcome assessment of congenital syndactyly surgery using temporary tissue expansion of the dorsal hand and local flaps ...
Kravljanac Đorđe +2 more
doaj +1 more source
Four Unusual Cases of Congenital Forelimb Malformations in Dogs
Animals, 2021 Four dogs were presented with thoracic limb deformity. After clinical and radiographic examinations, a diagnosis of congenital malformations was performed for each of them.
Simona Di Pietro +6 more
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Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia
Scripta Score Scientific Medical Journal, 2021 Background: Apert syndrome is characterized by several malformations of cranial-facial and syndactyly. The incidence of Apert syndrome was reported at approximately 1 per 65,000 live births, globally.
Muhammad Pradhika Mapindra +1 more
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Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell +16 more
wiley +1 more source
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
Evaluation of hexagonal flap for Syndactyly repair
Zanco Journal of Medical SciencesBackground and objective: Syndactyly is among the most commonly treated hand anomalies by plastic surgeons. Since the 1800s,over 46 corrective procedures have been described.
Lavin Jawher Putris +1 more
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