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Case Reports
. 2003 Jan 15;116A(2):164-9.
doi: 10.1002/ajmg.a.10067.

Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy

Vorasuk Shotelersuk  1 , Tayard Desudchit, Nitaya Suwanwela
Affiliations
Case Reports

Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy

Vorasuk Shotelersuk et al. Am J Med Genet A. .

Abstract

We describe two sibs with postnatal-onset growth deficiency, microcephaly, cataract, prominent supraorbital ridge, large joint contractures, severe osteoporosis, cortical dysplasia, cerebellar atrophy, and mental retardation. The combination appears to constitute a previously undescribed syndrome inherited in an autosomal recessive pattern.

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