Article
Prenatal diagnosis of Pfeiffer syndrome type II.
Prenatal diagnosis - 1 Aug 2004
Blaumeiser Bettina, Loquet Philip, Wuyts Wim, Nöthen Markus M
Abstract excerpt
Pfeiffer syndrome is an autosomal dominant disorder characterized by coronal craniosynostosis, midface hypoplasia, broad thumbs and great toes. On the basis of clinical findings, three subtypes have been delineated. The clinical variability of Pfeiffer syndrome as well as other causes of craniosynostosis can make a prenatal diagnosis based on sonography alone difficult. We describe a fetus in whom sonographic...
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