All issues > Volume 44(7); 2001

Case Report

J Korean Pediatr Soc. 2001;44(7):832-836. Published online July 15, 2001.

A Case of Apert's Syndrome with Encephalocele and Hypogenesis of Corpus Callosum

Min Kyoung MK Kwon¹, Ja Yun JY Yu¹, Mi Ran MR Kim¹, Kon Hee KH Lee¹, Hae Ran HR Lee¹, Kwang Nam KN Kim¹

¹Department of Pediatirics, College of Medicine, Hallym University, Seoul, Korea.

Abstract

Apert's syndrome(acrocephalosyndactyly) is a rare congenital anomaly that is characterized by the combination of premature fusion of multiple cranial sutures primarily involving the coronal suture and severe symmetrical syndactyly of fingers and toes. Some patients of this syndrome have various abnormalities of the central nervous system. We experienced a case of Apert's syndrome with craniofacial malformations, symmetric syndactyly, occipital encephalocele and hypogenesis of corpus callosum. She had a oxycephalic head with small sized anterior fontanelle, elongated forehead, hypertelorism, down-slanting palpebral fissures, flattened nose, cleft palate, low set ears and short neck. A 5¡¿3 cm sized scalp-covered soft mass protruded in the occipital area through defect of the occipital bone. MRI showed hypogenesis of corpus callosum, occipital encephalocele, dilatation of the lateral and the third ventricles. She also had hands and feet with symmetric syndactyly involved skin and soft tissue but not bones.

Keywords :Apert's syndrome, Encephalocele, Hypogenesis of corpus callosum