Orthopedics > OCOSH Classification > Bone Diseases > Bone Developmental Diseases > Dysostoses > Orofaciodigital Syndromes > Unique Form of Mental Retardation with a Distinctive Phenotype Shasti Syndrome

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Unique Form of Mental Retardation with a Distinctive Phenotype Shasti Syndrome

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Location: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=10677307

Description: We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Am J Hum Genet. 2000 Feb;66(2):469-79

Type: Case Study
Author/Contact: Shasti et al
Institution: Wake Forest University School of Medicine
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 743
Added: Sat Nov 18 2006