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Clin Dysmorphol. 2003 Oct;12(4):237-40.

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

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  • 1Clinical Genetic Unit, Department of Paediatrics, University Hospital, Amiens, France.


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.

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