title: Familial cystic hygroma. Report of 8 cases in 3 families.
abstract: 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.
authors.affiliation: Médecine infantile B. CHU PURPAN, Toulouse, France.
authors.forename: J
authors.initials: J
authors.lastname: Tricoire
authors.forename: M F
authors.initials: MF
authors.lastname: Sarramon
authors.forename: M
authors.initials: M
authors.lastname: Rolland
authors.forename: G
authors.initials: G
authors.lastname: Lefort
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D000025:Abortion, Eugenic; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006258:Head and Neck Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D016216:Ultrasonography, Prenatal