Article
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenatal diagnosis - 1 Jan 2013
Schoner Katharina, Kohlhase Juergen, Müller Annette M, Schramm Thomas, Plassmann Margit, Schmitz Ralf, Neesen Juergen, Wieacker Peter, Rehder Helga
Abstract excerpt
OBJECTIVE: Fetal pathology aims to recognize syndromal patterns of anomalies for goal-directed mutation analyses, genetic counseling, and early prenatal diagnosis in consecutive pregnancies. Here, we report on five fetuses with Peters' plus syndrome (PPS) from two distinct families aborted after prenatal ultrasound diagnosis of hydrocephaly. METHOD: We performed fetal autopsies and molecular analyses. RESULTS:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.