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Abstract
A new association of congenital familial short stature with facial dysmorphism and osteochondrodysplastic lesions is described in two siblings. Clinical abnormalities include severe prenatal and postnatal growth failure and facial dysmorphism. Radiographs show osteochondrodysplastic lesions with a narrow thorax, short ribs, epiphyseal maturation delay and slightly deformed metaphyses. Microscopic analysis of the skeleton shows pathological features.
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Mievis, C., Clapuyt, P., Claus, D., Behets Wydemans, C., Malvaux, P., & Dumoulin, C. (1996). A new familial short stature syndrome: Brussels type. Clinical Dysmorphology, 5(1), 9-16. https://doi.org/10.1097/00019605-199601000-00002 (Original work published 1996)