| A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome |
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Ki Hun Song, Jee Yeon Song, In Kyung Sung, Kyong Su Lee |
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Department of Pediatrics, College of Medicine, Catholic University, Seoul, Korea |
| Pena-Shokeir 표현형을 보인 Trisomy 18 증후군 1례 |
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송기헌, 송지연, 성인경, 이경수 |
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가톨릭대학교 의과대학 소아과학교실 |
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| Abstract |
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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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