Cargando…

An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations

Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly est...

Descripción completa

Detalles Bibliográficos
Autores principales: SINGH, SURYA VIJAY, PURI, GYANENDRA, GEMMY, ANISHA ELIZABETH
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medical University Publishing House Craiova 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940929/
https://www.ncbi.nlm.nih.gov/pubmed/36815080
http://dx.doi.org/10.12865/CHSJ.48.03.16
Descripción
Sumario:Split-hand/foot malformation (SHFM), also called as ectrodactyly. SHFM is a natural limb deformity, characterized by a deep standard split of the hand and/ or foot due to the absence of the central shafts. SHFM may happen as a separate existent or as part of a syndrome. Both forms are constantly established in association with chromosomal rearrangements resemblant to translocations or deletion. It is clinically and genetically diverse and shows substantially autosomal dominant heritage with variable expressivity and reduced penetrance. Cases presenting with SHFM features should be rigorously diagnosed, clinically examined, and submitted to pertinent cytogenetic and/ or molecular testing. We presented two months old male child and his paternal grandmother with SHFM