| A Case of Cerebrocostomandibular Syndrome with Congenital Heart Disease |
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Sang Heui Song, Kook In Park, Hye Jung Joo, Ran Namgung, Chul Lee, Dong Gwan Han |
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Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea |
| 선천성 심장질환을 동반한 Cerebrocostomandibular Syndrome 1례 |
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송상희, 박국인, 주혜정, 남궁란, 이철, 한동관 |
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연세대학교 의과대학 소아과학교실 |
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| Abstract |
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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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