Results 81 to 90 of about 20,549 (261)
Journal of Ayurveda and Integrative Medicine, 2013 Polydactyly is a most common congenital hand defects in which the hand has one or more extra fingers, commonly seen postaxial, that is, on the small finger side.
Amarprakash P Dwivedi
doaj +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy
Clinical Genetics, EarlyView.Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa +4 more
wiley +1 more source
Journal of Bone and Mineral Research, 2018 Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial digits.
I. Schrauwen +17 more
semanticscholar +1 more source
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
Clinical Genetics, EarlyView.SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel +27 more
wiley +1 more source
Journal of Anatomy, EarlyView.We review the characteristic changes to the limb soft tissue and neurovascular abnormalities that have been described in the congenital limb birth defect, Radial Dysplasia. These include consistent changes in muscle anatomy or absence of specific muscles, persistent median arteries and absent radial arteries and consistent alterations in neural ...
Marco Correia Duarte +6 more
wiley +1 more source
Setmelanotide in Bardet‐Biedl Syndrome: A Case Report
Pediatric Dermatology, EarlyView.ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith +2 more
wiley +1 more source
An alternative treatment for type B Ulnar Polydactyly
, 2009 Includes summary.Includes bibliographical references (leaves 47-50).Rudimentary ulnar polydactyly is one of the most common congenital hand anomalies. These are conventionally treated by suture ligation in the neonatal period or by formal excision, when ...
Maree, Michelle Nerine
core
Klippel-Trenaunay syndrome associated with polydactyly
, 2006 Klippel-Trenaunay syndrome (KTS) manifests cutaneous vascular nevus, superficial venous varicosities, and hypertrophy of the affected limb. KTS may be associated with other developmental anomalies such as polydactyly, syndactyly, and macrocephaly.
Halici, U, Duran, E, Sunar, H
core +1 more source
Clinical Characterization of Skin Findings on the Hands in Proteus Syndrome
Pediatric Dermatology, EarlyView.ABSTRACT Background Proteus syndrome is a progressive asymmetric overgrowth disorder caused by mosaic activating variants in AKT1. It most frequently affects the skin, soft tissues, bones, and central nervous system and increases the risk for certain tumors and venous thromboembolism. A hallmark feature is the progressive plantar cerebriform connective
Samantha D. Verling +4 more
wiley +1 more source