Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.
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.
Ramsing
M
M
Institut für Humangenetik der Medizinischen Universität zu Lübeck, F.R.G.
Rehder
H
H
Holzgreve
W
W
Meinecke
P
P
Lenz
W
W
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