title: Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.
abstract: Clinical and autopsy findings in two fetuses and one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal-recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbance.
authors.affiliation: Institut für Humangenetik der Medizinischen Universität zu Lübeck, F.R.G.
authors.forename: M
authors.initials: M
authors.lastname: Ramsing
authors.forename: H
authors.initials: H
authors.lastname: Rehder
authors.forename: W
authors.initials: W
authors.lastname: Holzgreve
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
authors.forename: W
authors.initials: W
authors.lastname: Lenz
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000853:Anophthalmos / Q000175:diagnosis* / Q000235:genetics; D001006:Anus, Imperforate / Q000175:diagnosis; D002971:Cleft Lip / Q000175:diagnosis; D002972:Cleft Palate / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013576:Syndactyly / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography