The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up

Resham Ejaz; Riyana Babul-Hirji; David Chitayat

doi:10.1002/ccr3.425

The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up

Clin Case Rep. 2016 Feb 28;4(4):351-5. doi: 10.1002/ccr3.425. eCollection 2016 Apr.

Authors

Resham Ejaz¹, Riyana Babul-Hirji², David Chitayat³

Affiliations

¹ Department of Pediatrics Division of Clinical & Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto ON Canada.
² Department of Pediatrics Division of Clinical & Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto ON Canada; Department of Molecular Genetics University of Toronto Toronto ON Canada.
³ Department of Pediatrics Division of Clinical & Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto ON Canada; Department of Molecular Genetics University of Toronto Toronto ON Canada; The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto Toronto ON Canada.

Abstract

Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic condition associated with SMARCA2 gene mutations. Clinical diagnosis is challenging as its features evolve with time. The 20 years follow-up of our NCBRS patient, with a previously unreported SMARCA2 mutation, illustrates the syndrome's natural history and its clinical variability, especially in a milder form.

Keywords: Nicolaides–Baraitser syndrome; SMARCA2; follow‐up studies; intellectual disability; natural history; sparse hair.

Publication types

Case Reports