Results 21 to 30 of about 2,906,821 (168)

Change-of-function fibroblast growth factor receptor 3 mutations causing skeletal dysplasias. [PDF]

J Cell Commun Signal
We show that the ligands FGF1 and FGF2 elicit differential fibroblast growth factor receptor 3 (FGFR3) signaling responses and that the FGFR3 G380R and A391E mutations reshape these signaling outputs. Thus, pathogenic FGFR3 mutations found in skeletal dysplasia do not simply enhance signaling strength and should be reclassified from “gain‐of‐function ...
Roy T, Feketova Z, Liu J, Krejci P, Hristova K.   +4 more
europepmc   +2 more sources

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance? [PDF]

Clin Genet
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Zgheib O, Rio-Frio T, Guipponi M, Nouspikel T, Fokstuen S, Abramowicz M, Khau Van Kien P.   +6 more
europepmc   +2 more sources

New Notations for Better Morphological Distinction of Postaxial Polydactyly of the Foot

Plastic and Reconstructive Surgery, Global Open, 2022
Background:. There have been many reports on the classification and treatment of postaxial polydactyly of the foot. However, despite its being a common congenital anomaly, there is no universal notation about its morphology. Methods:.
Yuka Hirota, MD, PhD, Koichi Ueda, MD, PhD, Chizuru Umeda, MD, Eriko Yoshida, MD   +3 more
doaj   +1 more source

Syndactyly in Pigs: A Review of Previous Research and the Presentation of Eight Archaeological Specimens [PDF]

, 2011
This paper reviews evidence for the rare condition of porcine syndactyly. It describes eight archaeological examples from Britain, Northern Ireland and France. Syndactyly refers to the partial or complete fusion of two or more adjacent phalanges on the
Beglane, F., F. Beglane, Beglane, Fiona, Forest, Vianney, R. Madgwick, Forest, V., V. Forest, Madgwick, Richard   +7 more
core   +1 more source

Syndactyly in the Pediatric Population: A Review of the Literature

, 2023
Syndactyly is one of the most common congenital upper extremity deformities. Syndactyly can be described as either simple, involving just the skin and soft tissue, or complex, involving the phalanges.
Tabaie, Sean, Mahindroo, Sonal, Sonal Mahindroo, Sean Tabaie   +3 more
core   +1 more source

Unilateral syndactyly, hemihypertrophy, and hyperpigmentation with mosaic 2q35 deletion

Indian Journal of Dermatology, 2023
Pigmentary mosaicism (PM) is a clinical condition of dyspigmentation with chromosomal abnormality. PM presents with both cutaneous and extracutaneous manifestation. Hypomelanosis of Ito and linear and whorled nevoid hypermelanosis are syndromic disorders
Akhtar Ali, Ajeet Kumar, Pawan K Dubey, Vivek Pandey, Ankur Singh   +4 more
doaj   +1 more source

Syndactyly

, 2023
Syndactyly is a common hand anomaly that affects 1 in 2000–3000 live births. It has a spectrum from simple syndactylies with fusion of the skin and soft tissues only, complex syndactylies with fusion of bones and nails to complicated syndactylies which ...
Weber, Daniel M
core   +1 more source

New simple technique for syndactyly separation

, 2020
Objectives/Interrogation: Web reconstruction in finger syndactyly using a hexagonal dorsal skin flap and a straight midline incision gives a good cosmetic and functional result with little need for skin grafts. Methods: We developed an easy technique to be used in simple complete (SC), simple[for full text, please go to the a.m. URL]
Nietosvaara, Y, Grahn, P, Sommarhem, A
openaire   +2 more sources

Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis [PDF]

, 2022
The formation of the digits is a tightly regulated process. During embryogenesis, disturbance of genetic pathways in limb development could result in syndactyly; a common congenital malformation consisting of webbing in adjacent digits.
Cassim, A, Hettiarachchi, D, Dissanayake, VHW, Dineshani Hettiarachchi, Cassim, Afraah, Hettiarachchi, Dineshani, Dissanayake, Vajira H. W., Vajira H. W. Dissanayake, Afraah Cassim   +8 more
core   +1 more source

Surgical results from treating children with syndactyly through the collective effort system at "SOS Hand Recife" between 2005 and 2009

Revista Brasileira de Ortopedia, 2014
Objective:to evaluate the results from and parents' satisfaction with treatment for children with syndactyly who were operated at the "SOS Hand Recife" hospital between 2005 and 2009.Methods:data for assessing the results were gathered from the patients'
Mauri Cortez, José Veríssimo Fernandes Júnior, Rui Ferreira da Silva, Alain Gilbert, Philippe Valenti, Carlos Teixeira Brandt, André Almeida Pinheiro Teles   +6 more
doaj   +1 more source