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A Case of Chondrodysplasia Punctata Combined with Unilateral Choanal Atresia / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery ; : 178-181, 2002.
Artigo em Coreano | WPRIM | ID: wpr-653472
ABSTRACT
Chondrodysplasia punctata is a rare congenital disease. It is classified into four main types according to the clinical features and heredity autosomal dominant (Conradi-Hunermann's) type, autosomal recessive (rhizomelic) type, X-linked dominant type and X-linked recessive type. Among the four, rhizomelic chondrodysplasia punctata (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 symmetrical shortening of upper or lower extremity, coronal cleft of vertebral body, metaphysical spraying and stippled calcification. This case shows typical abnormality in the face and extremity and also radiologic abnormality, uniquely combined with unilateral choanal atresia.
Assuntos

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Catarata / Atresia das Cóanas / Condrodisplasia Punctata / Condrodisplasia Punctata Rizomélica / Extremidade Inferior / Hereditariedade / Diagnóstico / Extremidades / Ictiose / Deficiência Intelectual Tipo de estudo: Estudo diagnóstico Limite: Humanos Idioma: Coreano Revista: Korean Journal of Otolaryngology - Head and Neck Surgery Ano de publicação: 2002 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Catarata / Atresia das Cóanas / Condrodisplasia Punctata / Condrodisplasia Punctata Rizomélica / Extremidade Inferior / Hereditariedade / Diagnóstico / Extremidades / Ictiose / Deficiência Intelectual Tipo de estudo: Estudo diagnóstico Limite: Humanos Idioma: Coreano Revista: Korean Journal of Otolaryngology - Head and Neck Surgery Ano de publicação: 2002 Tipo de documento: Artigo