Journal of the Korean Pediatric Society 1997;40(9):1303-1308.
Published online September 15, 1997.
A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome
Ki Hun Song, Jee Yeon Song, In Kyung Sung, Kyong Su Lee
Department of Pediatrics, College of Medicine, Catholic University, Seoul, Korea
Pena-Shokeir 표현형을 보인 Trisomy 18 증후군 1례
송기헌, 송지연, 성인경, 이경수
가톨릭대학교 의과대학 소아과학교실
Abstract
Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.
Key Words: Pena-Shokeir syndrome, Trisomy 18


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