Results 41 to 50 of about 15,472 (207)

Wassel VII triphalangeal polydactyly with metacarpal duplication: A report of 2 cases and reconstructive approach

open access: yesJournal of Orthopaedic Reports
Introduction: Polydactyly has the highest incidence of any upper extremity congenital anomaly. Preaxial polydactyly, while less common than postaxial polydactyly, presents many challenges in its treatment.
Todd H. Alter   +2 more
doaj   +1 more source

Image_2_Clinical Genetics of Polydactyly: An Updated Review.TIF

open access: yes, 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 Bilal (737265)   +4 more
core   +1 more source

Identification of novel mutations in preaxial polydactyly patients through whole‐exome sequencing

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Polydactyly is one of the most common hereditary limb malformation characterized by additional digits in hands and/or feet. With extra fingers/toes, which could be very problematic, polydactyly patients are usually treated in early childhood ...
Tao Wang   +6 more
doaj   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Table_3_Clinical Genetics of Polydactyly: An Updated Review.DOCX

open access: yes, 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 Bilal (737265)   +4 more
core   +1 more source

Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway

open access: yesMolecular Genetics & Genomic Medicine, 2022
Background Polydactyly and syndactyly are congenital limb deformities, segregating in an autosomal‐dominant fashion. The variants in the GLI3 gene are closely related to congenital limb malformations.
Xiaofang Shen   +4 more
doaj   +1 more source

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the overall diagnostic yield of sequential chromosomal microarray (CMA) and exome sequencing (ES) across the phenotypic spectrum of fetal growth restriction (FGR). Methods A retrospective cohort of 320 consecutive FGR pregnancies presenting at ≥ 20 weeks to a tertiary fetal medicine unit (2020–2025).
Hadas Miremberg   +11 more
wiley   +1 more source

Genetic pattern and gene localization of polydactyly in Beijing fatty chicken. [PDF]

open access: yesPLoS ONE, 2017
Polydactyly, a common heritable limb malformation in vertebrates, is characterized by supernumerary digits. In chickens, basic characteristics and rough dominant genes have been explored in past decades; however, the elaborate pattern of inheritance and ...
Chuan He   +13 more
doaj   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

open access: yesAndrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding   +3 more
wiley   +1 more source

Clinical characterization of Post-axial Polydactyly [PDF]

open access: yes, 2020
Polydactyly is among the most common congenital limb malformations, presenting at an estimated incidence of 1 in approximately 700–1,000 live births.
Faiz, Sirmast   +3 more
core  

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