Results 11 to 20 of about 1,690 (126)

Reconstructive Surgery for Foot Ectrodactyly in an Adolescent Patient: A Case Report [PDF]

Journal of Orthopaedic Case Reports
Introduction: Foot ectrodactyly is a rare congenital malformation characterized by the absence of the central rays resulting in a cleft foot deformity that may impair shoe wear, function, and cosmesis.
Centenarro Jose S Meceda, Adrian Joseph C Tablante, Emiliano B Tablante   +2 more
doaj   +2 more sources

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome [PDF]

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +2 more sources

Cleft Hand and Foot Syndrome: A Report of Three Cases with Review of Literature [PDF]

Journal of Orthopaedic Case Reports
Introduction: Cleft hands and feet constitute a rare, congenital abnormality of limb bud development, manifesting as a cosmetically and, occasionally, a functional debility of the hands or feet.
Rajiv Kaul, Neha Akhoon, Manish Prasad
doaj   +2 more sources

Complications of Limb Salvage in Concordant Bilateral Fibular Hemimelia and Tetramelic Ectrodactyly: A Case Report [PDF]

Journal of Orthopaedic Case Reports
Introduction: Fibular hemimelia (FH) is a rare congenital limb deficiency that presents with ankle instability, limb length discrepancy, and valgus malalignment, which can coexist with additional limb malformations that can, in turn complicate ...
Mark A Bachir, Iyawnna J Hazzard, Alexander S Bachir, Simran K Gill, Gavin S Chima, Biljinder S Chima   +5 more
doaj   +2 more sources

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split‐Hand/Foot Malformation 4: A Pedigree Report and Literature Review [PDF]

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
The expanded SHFM4 mutation spectrum encompasses 28 TP63 variants, including 12 dual‐phenotype (SHFM4/EEC3) mutations and 16 isolated SHFM4‐only mutations. The novel p.E678Q missense variant in the sumoylation motif is the most reliable SHFM4‐only mutation identified at the C‐terminus to date.
Wei Yang, Jian Zhou, Nuo Si, Xue Zhang
wiley   +2 more sources

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations [PDF]

The Journal of Gene Medicine, Volume 27, Issue 11, November 2025.
We report a heterozygous missense variant (c.184G〉C, p.Val62Leu) in exon 2 of the TP63 gene in a male patient with ectodermal dysplasia characterized by hypohidrosis, sparse hair, tooth agenesis, cleft lip/palate, hearing loss, and syndactyly. The variant was absent from public databases and unaffected relatives.
Jilong Chen, Xufeng Xi, Xiaoman Xu, Yao Lin   +3 more
wiley   +2 more sources

A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus [PDF]

Frontiers in Molecular Biosciences, 2023
Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare congenital limb disorders defined by the absence or hypoplasia of the central rays of the autopods with or without accompanying anomalies, such as hearing loss ...
Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Anna Materna-Kiryluk, Aleksander Jamsheer, Aleksander Jamsheer   +6 more
doaj   +2 more sources

Ectrodactyly with Polydactyly in a Dog—Case Description and Description of Surgical Therapy with Resection and Fusion Podoplasty [PDF]

Animals
Objective: To describe a rare congenital deformity of the phalanges and the surgical details and outcome in a dog with ectrodactyly combined with polydactyly. Study design: Single case report.
Paul Wehrenpfennig, Philipp Schmierer
doaj   +2 more sources

Isolated Cleft Foot: A Case Report and Review of Literature [PDF]

Indian Journal of Plastic Surgery
Cleft foot is a rare congenital anomaly (syndromic/isolated). Although there have been published reports about this anomaly, none has so far described standardized treatment guidelines. In this case report, we describe the details of operative management
Sunil Kumar Rout, Mainak Mallik, Priyanka Pant, Akanksha Rajpoot   +3 more
doaj   +2 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +2 more sources