A Case of Chondrodysplasia Punctata Combined with Unilateral Choanal Atresia.
- Author:
Yoon Keun PARK
1
;
Jae Hwan PARK
;
Jun Sun RYU
;
Ki Sik KIM
Author Information
1. Department of Otolaryngology, College of Medicine, Dongguk University, Kyongju, Korea. ykpark@dongguk.ac.kr
- Publication Type:Case Report
- Keywords:
Chondrodysplasia punctata;
Choanal atresia
- MeSH:
Cataract;
Choanal Atresia*;
Chondrodysplasia Punctata*;
Chondrodysplasia Punctata, Rhizomelic;
Diagnosis;
Extremities;
Heredity;
Humans;
Ichthyosis;
Intellectual Disability;
Lower Extremity
- From:Korean Journal of Otolaryngology - Head and Neck Surgery
2002;45(2):178-181
- CountryRepublic of Korea
- Language:Korean
-
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.
