title: Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.
abstract: In 1993, Nicolaides and Baraitser reported a new condition consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. We report here two unrelated patients with identical features, thus confirming the status of this rare disorder of unknown aetiology.
authors.affiliation: Clinical Genetic Unit, Department of Paediatrics, University Hospital, Amiens, France.
authors.forename: Gilles
authors.initials: G
authors.lastname: Morin
authors.forename: Lucie
authors.initials: L
authors.lastname: Villemain
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Michèle
authors.initials: M
authors.lastname: Mathieu
authors.forename: Nathalie
authors.initials: N
authors.lastname: Blanc
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D001827:Body Height; D002648:Child; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D008663:Metacarpus / Q000002:abnormalities*