Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nicolaides-Baraitser syndrome (NBS) is a recognizable pattern of human malformations so far reported only in 5 patients. This condition is chiefly characterized by congenital hypotrichosis, peculiar facial gestalt, short metacarpals, interphalangeal swelling, and growth and mental retardation. Although skin manifestations represent a prominent NBS feature, no particular attention has been paid to this condition in the dermatologic literature. Here, we report on the sixth patient with NBS, who requested dermatologic evaluation because of congenital sparse scalp hair. An integrated approach that involved the dermatologist, clinical geneticist, and radiologist was crucial for diagnostic definition. Literature review was carried out to better define the NBS clinical spectrum and to perform an in-depth differential diagnosis with other malformation syndromes presenting with congenital hypotrichosis.
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PMID:A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. 1911 35

Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The genetic background of Nicolaides-Baraitser syndrome is unclear in terms of cause and mode of inheritance, one of the more probable explanations is de novo mutation of a dominant gene. Some reported patients presented autistic features, although in none of these patients was the diagnosis of autism spectrum disorder formally made. We describe two unrelated patients with clinical features suggesting Nicolaides-Baraitser syndrome and, in addition, autism spectrum disorder is defined by the presence of the three cardinal core features: qualitative impairments in social, communicative, and behavioral development.
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PMID:Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder. 2080 10