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 is association with a variety of syndromes, some of which have other patterns of inheritance.