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Chondrodysplasia puncta is a rare congenital disease. It is classified into four main types acording to the clinical features and heredity:autosomal dominant (Conradi-Hunermanns) type, autosomal recessive (rhizomelic) type, X-linked dominant type (RCDP) is the most lethal form of the disease, and most patients die in the neonatal period. Diagnosis of the RCDP relies on its characteristic features and radiological finding. The characteristic features are craniofacial dysmorphism (flat face, flat nasal bridge, anteverted nostril, telecanthus), cataracts, rhizomelic limb shortening, ichthyosis, and mental retardation. Radiologic findings include rhizomelic symetrical case shows typical abnormality in the face and extremity and also radiologic abnormality, uniquely combined with unilateral choanal atresia. (Korean J Otolaryngol 2002;45:178-81)