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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.

AbstractOBJECTIVE:
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.
AuthorsKatharina Schoner, Juergen Kohlhase, Annette M Müller, Thomas Schramm, Margit Plassmann, Ralf Schmitz, Juergen Neesen, Peter Wieacker, Helga Rehder
JournalPrenatal diagnosis (Prenat Diagn) Vol. 33 Issue 1 Pg. 75-80 (Jan 2013) ISSN: 1097-0223 [Electronic] England
PMID23161355 (Publication Type: Case Reports, Journal Article)
Copyright© 2012 John Wiley & Sons, Ltd.
Chemical References
  • B3GALTL protein, human
  • Galactosyltransferases
  • Glucosyltransferases
Topics
  • Adult
  • Agenesis of Corpus Callosum (genetics, ultrasonography)
  • Cleft Lip (genetics, ultrasonography)
  • Cleft Palate (genetics, ultrasonography)
  • Cornea (abnormalities)
  • DNA Mutational Analysis
  • Dandy-Walker Syndrome (diagnosis, genetics)
  • Encephalocele (diagnosis, genetics)
  • Female
  • Fetal Growth Retardation (ultrasonography)
  • Galactosyltransferases (genetics)
  • Genetic Counseling
  • Gestational Age
  • Glucosyltransferases (genetics)
  • Growth Disorders (diagnosis, genetics)
  • Humans
  • Hydrocephalus (genetics, ultrasonography)
  • Limb Deformities, Congenital (diagnosis, genetics)
  • Male
  • Mutation
  • Pregnancy
  • Prenatal Diagnosis
  • Ultrasonography, Prenatal

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