| A Case of Apert's Syndrome with Encephalocele and
Hypogenesis of Corpus Callosum |
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Min Kyoung Kwon, Ja Yun Yu, Mi Ran Kim, Kon Hee Lee, Hae Ran Lee, Kwang Nam Kim |
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Department of Pediatirics, College of Medicine, Hallym University, Seoul, Korea. |
| 뇌류와 뇌량 발육부전을 동반한 Apert 증후군 1례 |
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권민경, 윤자윤, 김미란, 이건희, 이혜란, 김광남 |
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한림대학교 의과대학 소아과학교실 |
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| Abstract |
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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. |
| Key Words:
Apert's syndrome, Encephalocele, Hypogenesis of corpus callosum |
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