All issues > Volume 36(4); 1993

Case Report

J Korean Pediatr Soc. 1993;36(4):574-578. Published online April 15, 1993.

A Case of Cerebrocostomandibular Syndrome with Congenital Heart Disease

Sang Heui SH Song¹, Kook In KI Park¹, Hye Jung HJ Joo¹, Ran R Namgung¹, Chul C Lee¹, Dong Gwan DG Han¹

¹Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea

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.

Keywords :Cerebrocostomandibular Syndrome, Congenital heart disease