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Article

Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?

Clinical dysmorphology - 1 Jul 2004

Sinnerbrink Ingrid B, Adès Lesley C

Abstract excerpt

We describe a brother and sister with craniofacial dysmorphism, short stature, relative obesity, sensorineural deafness, multiple pigmented naevi and severe mental retardation. One sibling had keratoconus and the other had an iris coloboma. Dysmorphic features included brachycephaly, hypotelorism, small mouth, thin lips, pterygium colli, broad chest, widely spaced nipples and cutaneous second and third toe...

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Source

Identifiers

PMID: 15194955
DOI: 10.1097/01.mcd.0000115200.74297.cf

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