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MG-119 The evolving features of...
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