J Korean Pediatr Soc.  1993 Apr;36(4):574-578.

A case of cerebrocostomandibular syndrome with congenital heart disease

• Song SH
• Park KI
• Joo HJ
• Namgung R
• Lee C
• Han DG

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.

Keyword

Cerebrocostomandibular syndrome; Congenital heart disease

MeSH Terms

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