Bilateral toe syndactyly – short review based on a case report [PDF]
Romanian Journal of Medical Practice, 2021 Non-syndromic toe syndactyly is a regular cause of foot malformation in children, bilateral form being less common. Syndactyly release procedures had few contraindications, as uncomplicated malformation or important patient comorbidities.
Tiberiu Paul Neagu +2 more
doaj +1 more source
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly [PDF]
Nature Communications, 2019 Najim Lahrouchi +2 more
exaly +2 more sources
Epithelial Migration and Non-adhesive Periderm Are Required for Digit Separation during Mammalian Development. [PDF]
, 2020 The fusion of digits or toes, syndactyly, can be part of complex syndromes, including van der Woude syndrome. A subset of van der Woude cases is caused by dominant-negative mutations in the epithelial transcription factor Grainyhead like-3 (GRHL3), and ...
Andersen, Bogi +11 more
core +2 more sources
A Complex Case of Clino-Syndactyly with Fourth Metacarpal Aplasia
Life, 2023 Syndactyly is the most common congenital malformation of the hand, leading to the fusion of the digits and frequently affecting the ring and middle fingers.
Hermann Nudelman +4 more
doaj +1 more source
Molecular 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
Predictive Factors of Keloid Formation in Congenital Foot Syndactyly
Plastic and Reconstructive Surgery, Global Open, 2021 Background:. Keloid formation after syndactyly division is a stressful situation for patients. In our experience, digital enlargement may be involved in keloid formation following syndactyly divisions.
Sang Ho Oh, MD, Sang Hyun Woo, MD, PhD
doaj +1 more source
Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted [PDF]
, 2016 The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies.
Bever, Y. (Yolande) van +7 more
core +14 more sources
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis
Orphanet Journal of Rare Diseases, 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.
Afraah Cassim +2 more
doaj +1 more source
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes. [PDF]
Clin GenetIn 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Mokhtari A +7 more
europepmc +2 more sources
Syndactyly genes and classification: a mini review
Journal of Biochemical and Clinical Genetics, 2018 Syndactyly (Syn = together; Dactylos = digits) is the most common limb defect mostly characterized by webbing of digits. It may be webbing with or without bony fusion and inherited mostly in autosomal dominant manner, although also reported as autosomal ...
Muhammad Umair +3 more
doaj +1 more source