Article
"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.
American journal of medical genetics - 1 Sept 1993
Lurie I W, Wulfsberg E A
Abstract excerpt
Analysis of familial cases of the so called "holoprosencephaly-polydactyly" ("pseudotrisomy 13") syndrome shows that neither holoprosencephaly, nor polydactyly are obligatory manifestations of this condition. This review of previous case reports shows that each of these anomalies is only found in approximately 60% of affected sibs, and therefore these sentinel abnormalities are not required for diagnosis. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.