- Case Report
- 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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Clin Exp Pediatr. 1997;40(9):1303-1308. Published online September 15, 1997
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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,... |
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