Autosomal recessive split-hand/split-foot malformation

Autor: Biswajit Biswas, Kaustav Nayek, Asok Kumar Datta, Monojit Mondal
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Zdroj: Journal of Mahatma Gandhi Institute of Medical Sciences, Vol 21, Iss 1, Pp 72-74 (2016)
ISSN: 0971-9903
Popis: Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot. It is also known as ectrodactyly or lobster claw hand. Although SHFM is mostly autosomal dominant, there are isolated case reports which indicate that it can be autosomal recessive. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance.
Databáze: OpenAIRE