Article
Central nervous system malformations and deformations in FGFR2-related craniosynostosis.
American journal of medical genetics. Part A - 1 Nov 2012
Khonsari Roman Hossein, Delezoide Anne-Lise, Kang Wenfei, Hébert Jean M, Bessières Bettina, Bodiguel Valérie, Collet Catherine, Legeai-Mallet Laurence, Sharpe Paul T, Fallet-Bianco Catherine
Abstract excerpt
Central nervous system anomalies in Pfeiffer syndrome (PS) due to mutations in the FGFR2 gene are poorly understood, even though PS is often associated with serious cognitive impairment. The aim of this study is to describe the neuropathological phenotype in PS. We present four severe fetal cases of sporadic PS with FGFR2 mutations who underwent termination followed by fetopathological and neuropathological...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.