The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up.
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.
Department of Pediatrics Division of Clinical & Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto ON Canada.
Resham
R
Ejaz
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.
Riyana
R
Babul-Hirji
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.
David
D
Chitayat
Nicolaides–Baraitser syndrome; SMARCA2; follow‐up studies; intellectual disability; natural history; sparse hair