Article
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2014
Demir N, Peker E, Ece I, Kaba S, Doğan M, Tuncer O
Abstract excerpt
Simpson-Golabi-Behmel syndrome is a clinical condition described by Simpson, characterized with multiple congenital anomalies and caused by Glypican 3 (GPC3) mutations of the X-linked gene. Typical findings such as overgrowth, hypoplastic changes of hands and feet, visceromegaly, cleft palate and macrocephalic distinctive facial features and multiple organ anomalies might be observed. GPC3 mutation is claimed to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.