Korean Journal of Pediatrics 2004;47(9):1016-1019.
Published online September 15, 2004.
A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings
Soon Hwa Yoon1, Nam Young Kim1, Seon Hee Shin1, Sung Koo Kim1, Kon Hee Lee1, Hae Sun Yoon1, Jung Eun Kim2
1Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea
2Department of Radiology, College of Medicine, Hallym University, Seoul, Korea
형제에서 발생한 Rhizomelic형 점상 연골 이형성증 1례
윤순화1, 김남영1, 신선희1, 김성구1, 이건희1, 윤혜선1, 김정은2
1한림대학교 의과대학 소아과학교실
2한림대학교 의과대학 방사선과학교실
Soon Hwa Yoon, Email: ysh1027@orgio.net
Chondrodysplasia punctata is a group of heterogeneous bone dysplasia characterized by punctate calcifications of the cartilage, frequently associated with a shortening of the limbs, cataracts, icthyosis and alopecia, alterations of the nervous system, and mental and growth deficiencies. Our case presented findings of the rhizomelic chodrodysplasia punctata : a characteristic face, a sucking difficulty and a short neck. Skeletal radiographies showed punctate calcification and stippling on femurs, lumbar vertebral bodies and vertebral coronal cleft. According to his family history, his brother, who had the same characteristic face and punctate calcification at the neonatal period, died at the age of six months due to respiratory failure. The rhizomelic form of chondrodysplasia puntata is rare, the prognosis is bad and death usually occurs within the first year of age. We report a case of rhizomelic chondrodysplasia punctata occurring in siblings diagnosed by clinical and radiological criteria.
Key Words: Chondrodysplasia punctata, Rhizomelic, Radiographic magnifications, Siblings

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