title: 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.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Institute of Pathology, Philipps-University Marburg, Germany.
authors.forename: Katharina
authors.initials: K
authors.lastname: Schoner
authors.forename: Juergen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: Annette M
authors.initials: AM
authors.lastname: Müller
authors.forename: Thomas
authors.initials: T
authors.lastname: Schramm
authors.forename: Margit
authors.initials: M
authors.lastname: Plassmann
authors.forename: Ralf
authors.initials: R
authors.lastname: Schmitz
authors.forename: Juergen
authors.initials: J
authors.lastname: Neesen
authors.forename: Peter
authors.initials: P
authors.lastname: Wieacker
authors.forename: Helga
authors.initials: H
authors.lastname: Rehder
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000000981:diagnostic imaging / Q000235:genetics; D002971:Cleft Lip / Q000000981:diagnostic imaging / Q000235:genetics; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000235:genetics; D003315:Cornea / Q000002:abnormalities; D004252:DNA Mutational Analysis; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics*; D004677:Encephalocele / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D005700:Galactosyltransferases / Q000235:genetics*; D005817:Genetic Counseling; D005865:Gestational Age; D005964:Glucosyltransferases / Q000235:genetics*; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
chemical_list: C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases