Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy.
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.
Shotelersuk
Vorasuk
V
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and Hospital, Bangkok, Thailand. vorasuk.s@chula.ac.th
Desudchit
Tayard
T
Suwanwela
Nitaya
N
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001284:Atrophy; D002386:Cataract / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D005192:Family Health; D005260:Female; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D007596:Joints / Q000002:abnormalities*; D008297:Male; D010024:Osteoporosis / Q000473:pathology