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KMID : 0367419970400091303
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Journal of Korean Pediatric Society
1997 Volume.40 No. 9 p.1303 ~ p.1308
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A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome
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Song Ki-Hun
Song Jee-Yeon
Sung In-Kyung
Lee Kyong-Su
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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.
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KEYWORD
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Pena-Shokeir syndrome, Trisomy 18,
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