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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,... |
