A case of cerebrocostomandibular syndrome with congenital heart disease.
- Author:
Sang Heui SONG
;
Kook In PARK
;
Hye Jung JOO
;
Ran NAMGUNG
;
Chul LEE
;
Dong Gwan HAN
- Publication Type:Original Article
- Keywords:
Cerebrocostomandibular syndrome;
Congenital heart disease
- MeSH:
Cause of Death;
Cleft Palate;
Congenital Abnormalities;
Cyanosis;
Dextrocardia;
Diagnosis;
Female;
Fingers;
Heart Defects, Congenital*;
Heart Septal Defects, Atrial;
Humans;
Intellectual Disability;
Parturition;
Ribs;
Tetralogy of Fallot;
Thorax
- From:Journal of the Korean Pediatric Society
1993;36(4):574-578
- CountryRepublic of Korea
- Language:Korean
-
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 congenital 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 litertures briefly.
