Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.
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.
Morin
Gilles
G
Clinical Genetic Unit, Department of Paediatrics, University Hospital, Amiens, France.
Villemain
Lucie
L
Baumann
Clarisse
C
Mathieu
Michèle
M
Blanc
Nathalie
N
Verloes
Alain
A
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*