Brief clinical report: not all cystic hygromas occur in the Ullrich-Turner syndrome.
We report two sib fetuses with nuchal systic hygroma and cleft palate. This condition is probably recessively inherited as the parents have normal chromosomes (G-banded) and the fetuses were of opposite sex. Nuchal cystic hygroma is a nonspecific malformation, which reflects a delay in development of the connection between the jugular lymph sacs and the internal jugular vein. This fetal malformation and its equivalent in the adult, neck webbing, has been reported to be a part of a variety of genetic malformation syndromes. Some suggestions for counseling parents of an affected fetus are made: If the chromosome karyotype of an affected fetus is unknown, ultrasound examination, rather than AFP studies, is suggested for future pregnancies.
D000328:Adult; D002972:Cleft Palate / Q000235:genetics; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005315:Fetal Diseases / Q000235:genetics*; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D008202:Lymphangioma / Q000235:genetics*; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D013577:Syndrome