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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
Author(s) -
Schoner Katharina,
Kohlhase Juergen,
Müller Annette M.,
Schramm Thomas,
Plassmann Margit,
Schmitz Ralf,
Neesen Juergen,
Wieacker Peter,
Rehder Helga
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4012
Subject(s) - agenesis of the corpus callosum , hypertelorism , corpus callosum agenesis , medicine , fetus , hydrocephalus , prenatal diagnosis , corpus callosum , agenesis , holoprosencephaly , anatomy , cyst , pathology , pregnancy , genetics , biology , surgery
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 Among 44 fetuses with prenatally diagnosed hydrocephaly, four fetuses of 16 to 21 gestational weeks presented with additional cleft lip/palate and/or agenesis of the corpus callosum. Other features were growth retardation, hypertelorism, anomalies of the eyes, in part consistent with Peters' anterior chamber anomalies, mild brachymelia, brachydactyly, and also internal anomalies. Suspected PPS was confirmed by detection of B3GALTL mutation in these four fetuses and in one additional sib fetus, revealing homozygosity for the common c.660 + 1G > A donor splice site mutation in intron 8. Conclusions Autosomal‐recessive PPS has not yet been diagnosed prenatally. We want to alert ultrasonographers to the diagnosis of this disorder in growth‐retarded fetuses with (recurrent) hydrocephaly, agenesis of the corpus callosum, and cleft lip/palate and stress the more severe fetal manifestation, describing a first such case with additional Dandy–Walker cyst and occult meningoencephalocele. © 2012 John Wiley & Sons, Ltd.