Non-immune fetal hydrops associated with nuchal cystic hygroma: further evidence for an autosomal recessive subtype.
Nuchal cystic hygroma (NCH) and non immune hydrops (NIH) were detected by ultrasound examinations in two sib male fetuses. Fetal and parental karyotypes were normal. The parents elected to terminate the two pregnancies. Post mortem examination showed no anomalies other than those detected by ultrasound. The family history shows consanguinity supporting the hypothesis, in this family, of an autosomal recessive inheritance of the cystic hygroma/non immune hydrops.
Bruni
L
L
Servizio di Citogenetica-Consulenza Genetica, Università degli Studi di Roma La Sapienza.
Maggi
E
E
Capolino
R
R
de Prosperi
V
V
D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics*; D018191:Lymphangioma, Cystic / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011256:Pregnancy Outcome