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A Case of Cerebrocostomandibular Syndrome with Congenital Heart Disease

Journal of the Korean Pediatric Society 1993;36(4):574-578.
Published online April 15, 1993.
A Case of Cerebrocostomandibular Syndrome with Congenital Heart Disease
Sang Heui Song, Kook In Park, Hye Jung Joo, Ran Namgung, Chul Lee, Dong Gwan Han
Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea
선천성 심장질환을 동반한 Cerebrocostomandibular Syndrome 1례
송상희, 박국인, 주혜정, 남궁란, 이철, 한동관
연세대학교 의과대학 소아과학교실
Abstract
Cerebrocostomandibular Syndrome is characterized by micrognathia, cleft palate, multiple thorax deformity and frequently, mental deficiency. Respiratory compromise is a common cause of death. We experienced a case of cerebrocostomandibular syndrome with congeniyal heart disease in a 2 day old female baby with the chief complaint of cyanosis and respiratory difficulty since birth, She was delivered by cesarian section due to delayed labor at IUP 42 weeks. The diagnosis was made on the basis of clinical features, radiologic findings and echocardiogram, which showed micrognathia, deformity of 3rd finger Lt., hemivertebrae of T1-T6 Lt., absence of 1-6th rib Lt., dextrocardia, tetralogy of fallot, atrial septal defect secondum. We reported this case and reviewed related literatures briefly.
Key Words: Cerebrocostomandibular Syndrome, Congenital heart disease


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