Results 1 to 10 of about 11,948 (181)

Clinical Genetics of Polydactyly: An Updated Review

open access: yesFrontiers in Genetics, 2018
Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a ...
Muhammad Umair   +2 more
exaly   +3 more sources

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Polydactyly is a common genetic limb deformity characterized by the presence of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) or as part of a syndrome.
Muhammad Umair   +2 more
exaly   +2 more sources

Prenatal Diagnosis of Short Rib‐Polydactyly Syndrome (SRPS), DYNC2I1‐Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing [PDF]

open access: yesClinical Case Reports
Short rib‐polydactyly syndrome (SRPS), with or without polydactyly, encompasses a range of autosomal recessive skeletal dysplasias characterized by shortened limbs, narrow thorax, and visceral abnormalities.
Shiyao Xian   +7 more
doaj   +2 more sources

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy [PDF]

open access: yesBMC Ophthalmology
Background Leber congenital amaurosis (LCA) is one of the earliest-onset and most severe forms of inherited retinal disease, and Bardet-Biedl syndrome (BBS) is a rare non-motile primary ciliopathy with a diverse multi-organ phenotype.
Liang Wang   +6 more
doaj   +2 more sources

Thumb Polydactyly: Clinical Outcome after Reconstruction

open access: yesJournal of Orthopaedic Surgery, 2006
Purpose. To evaluate clinical and cosmetic outcomes of reconstruction in thumb polydactyly and prognostic value of the Wassel classification. Methods.
CH Yen, WL Chan, HB Leung, KH Mak
exaly   +2 more sources

New Classification of Polydactyly of the Foot on the Basis of Syndactylism, Axis Deviation, and Metatarsal Extent of Extra Digit [PDF]

open access: yesArchives of Plastic Surgery, 2013
Background Polydactyly of the foot is one of the most frequent anomalies of the limbs. However, most classification systems are based solely on morphology and tend to be inaccurate and less relevant to surgical methods and results.
Hyo Hyun Seok   +2 more
doaj   +4 more sources

A Case of Familial Polydactyly From Turkey [PDF]

open access: yesTurkish Journal of Plastic Surgery, 2016
Polydactyly is among the most frequently encountered congenital anomalies of the extremities. Although it is usually presented in an isolated and sporadic manner, familial cases can also be rarely encountered.
Billur Sezgin
doaj   +1 more source

Parallel Evolution of Polydactyly Traits in Chinese and European Chickens. [PDF]

open access: yesPLoS ONE, 2016
Polydactyly is one of the most common hereditary congenital limb malformations in chickens and other vertebrates. The zone of polarizing activity regulatory sequence (ZRS) is critical for the development of polydactyly.
Zebin Zhang   +13 more
doaj   +1 more source

On-Top Plasty at the Level of the Metatarsal Neck for Treatment of Polydactyly

open access: yesFrontiers in Pediatrics, 2022
Polydactyly is a common deformity of the limbs, and excision of the extra digit has shown good results in the vast majority of patients. However, this treatment approach may not suitable for all cases of polydactyly.
Wei Liao, Li Jiang, Pengfei Zheng
doaj   +1 more source

Spontaneous pre-axial polydactyly in Swiss mice

open access: yesCiência Rural, 2021
: Spontaneous polydactyly has been described in several species, but only one report about it in Swiss mice. The aim of the current study was to report the spontaneous occurrence of pre-axial polydactyly in Swiss mice.
Cristina Barbosa   +2 more
doaj   +1 more source

Home - About - Disclaimer - Privacy