Results 51 to 60 of about 15,472 (207)

Treatment for central polydactyly of the foot with nine toes: a rare case report

BMC Musculoskeletal Disorders
Background Pediatric polydactyly is a common congenital disorder of the hand and foot that affects the development and psychology of children. It can be classified into postaxial polydactyly, preaxial polydactyly and central polydactyly.
Yu Chen, Chunhua Yin, Xiaofang Shen
doaj   +1 more source

Bardet Biedl syndrome – report of a very rare case

National Journal of Clinical Anatomy, 2016
Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti, Daksha Dixit, Harshavardhan Pati   +2 more
doaj   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

A Rare Footprint: A Case Report of Isolated Pre-Axial Fully Developed Supernumerary Toe

Journal of Orthopaedic Case Reports
Introduction: Polydactyly of the foot, particularly pre-axial polydactyly, is a rare congenital malformation that can occur alongside various congenital anomalies and syndromes.
Varun Kumar, Mohan Choudhary, Srinivasan Rajappa, Kevin Lourdes, Arjun Ganesh, P Velmurugan   +5 more
doaj   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Sushi hand roll dressing for thumb polydactyly [PDF]

, 2012
Surgery for thumb polydactyly is a commonly performed orthopaedic procedure in Asia Pacific region. Despite extensive publications on topical dressing methods and dressing materials in paediatric wounds, there is no single design that affords a secure ...
Leung-Kim Hung, Yen Chi-Hung, Ho Pak-Cheong, Chi-Hung Yen, Chi-Hung Yen, Hung Leung-Kim, Pak-Cheong Ho   +6 more
core   +1 more source

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China

BMC Pregnancy and Childbirth
Objective To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020. Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020.
Xu Zhou, Ting Li, Haiyan Kuang, Ying Zhou, Donghua Xie, Jian He, Juan Xiao, Chanchan Chen, Yurong Jiang, Junqun Fang, Hua Wang   +10 more
doaj   +1 more source

Comparative anatomy of chicken and human forelimb muscles: Implications for human congenital conditions through developmental models

Journal of Anatomy, EarlyView.
The chicken embryo is an accessible, low‐cost and genetically tractable model for studying limb development and congenital limb differences. We directly compared chicken and human limb musculature using published evidence alongside our own data and observations.
Julia Dong Hwa Oh, Megan G. Davey, Melina Eleni Bell, Meera Arun Singhal, Wee Leon Lam   +4 more
wiley   +1 more source

Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: We present prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound. Case report: A 30-year-old, gravida 2, para 1, woman underwent amniocentesis at 22 weeks of gestation ...
Chih-Ping Chen, Shu-Yuan Chang, Yen-Ni Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Li-Feng Chen, Wayseen Wang   +10 more
doaj   +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, Nicole Gaidici, Leslie G. Biesecker, Thomas N. Darling, Christopher A. Ours   +4 more
wiley   +1 more source