Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week.
A couple who were first cousins were referred for genetic counselling because of a previous spontaneous abortion and two female stillbirths with cyclopia. In the 18th week of the mother's fifth pregnancy a holoprosencephalic fetus was diagnosed by ultrasonography. The pregnancy was terminated. Postmortem computed tomography and pathological examination revealed that the female fetus had alobar holoprosencephaly with cyclopia. Chromosomal analysis of the fetus was normal.
Balci
S
S
Department of Pediatrics, Hacettepe University, School of Medicine, Ankara, Turkey.
Onol
B
B
Erçal
M D
MD
Günay
M
M
Besim
A
A
Eryilmaz
M
M
D000028:Abortion, Induced; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000002:abnormalities; D005808:Genes, Recessive; D016142:Holoprosencephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography