Familial cystic hygroma. Report of 8 cases in 3 families.

Genet Couns

Médecine infantile B. CHU PURPAN, Toulouse, France.

Published: March 1994

The authors report 8 cases of familial cystic hygroma concerning 3 families. In the first family, the two affected fetuses with normal karyotypes showed cystic hygroma of the neck associated with campomelic long bone disease. No other fetal anomalies in the two fetuses were found in the second family, and only one of the four abortuses revealed associated malformations (meningomyelocoele, cleft palate) in the third family. In all these cases, parental consanguinity is found, supporting an autosomal recessive mode of inheritance.

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