Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. American journal of medical genetics. Part A. [Am J Med Genet A] Journal article | | Title | Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. | | Author(s) | Shotelersuk V, Desudchit T, Suwanwela N | | Institution | Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and Hospital, Bangkok, Thailand. vorasuk.s@chula.ac.th | | Source | Am J Med Genet A 2003 Jan 15; 116(2):164-9. | | MeSH | Abnormalities, Multiple
Atrophy
Cataract
Cerebellum
Cerebral Cortex
Child
Family Health
Female
Growth Disorders
Humans
Joints
Male
Mental Retardation
Osteoporosis
Research Support, Non-U.S. Gov't
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 12494436 |
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