Familial cystic hygroma with normal karyotype.
A patient is described who had three consecutive fetuses with cystic hygroma and hydrops, two of which had documentation of normal karyotype. Some twenty percent of fetuses with cystic hygroma have a normal karyotype, and many of these have other major malformations. An autosomal recessive pattern of inheritance has been postulated, but cystic hygroma may also occur in association with a variety of syndromes, some of which have other patterns of inheritance.
Watson
W J
WJ
Maternal Fetal Medicine, University of North Carolina, Chapel Hill 27599-7570.
Thorp
J M
JM
Seeds
J W
JW
D000328:Adult; D005260:Female; D005315:Fetal Diseases; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping; D008202:Lymphangioma / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D014463:Ultrasonography