Journal article
MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up
Abstract
Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic condition, with approximately 50 reported cases, characterised by dysmorphic facies, developmental delay, seizures, short stature, sparse hair and prominent interphalangeal joints. Limited cases have followed NCBRS features' evolution. We report a twenty-year follow-up of a NCBRS patient to elucidate the syndrome's natural history. This patient was born at term to a 28-year-old …
Authors
Ejaz R; Babul-Hirji R; Chitayat D
Journal
Journal of Medical Genetics, Vol. 52, No. Suppl 1,
Publisher
BMJ
Publication Date
November 2015
DOI
10.1136/jmedgenet-2015-103577.12
ISSN
0022-2593