A Case of Chondrodysplasia Punctata Combined with Unilateral Choanal Atresia / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
; : 178-181, 2002.
Article
em Ko
| WPRIM
| ID: wpr-653472
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Catarata
/
Atresia das Cóanas
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Condrodisplasia Punctata
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Condrodisplasia Punctata Rizomélica
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Extremidade Inferior
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Hereditariedade
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Diagnóstico
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Extremidades
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Ictiose
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Ko
Ano de publicação:
2002
Tipo de documento:
Article