[Prenatal diagnosis of holoprosencephaly with postaxial polydactyly, cardiopathy with normal karyotype].
Holoprosencephaly is a malformation complex, in which the foetal forebrain (prosencephalon) fails to cleave. The aetiology of holoprosencephaly is heterogeneous. In the last years, a new malformation syndrome has been described, including holoprosencephaly, postaxial polydactyly, congenital heart defects and normal karyotype. In this report, a new case of this syndrome, prenatally diagnosed, is discussed, based on ultrasound and foetal blood sampling. The important implications are pointed out in relation to adequate genetic counselling.
Salamanca
A
A
Universitäts-Frauenklinik Granada, Spanien.
Padilla
M C
MC
Sabatel
R M
RM
Motos
M A
MA
Stemper
K
K
Gonzalez-Gomez
F
F
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D005260:Female; D005313:Fetal Death; D005385:Fingers / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D016142:Holoprosencephaly / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D013577:Syndrome; D016216:Ultrasonography, Prenatal
Pränatale Diagnostik der Holoprosenzephalie mit postaxialer Polydaktylie, Kardiopathie bei normalem Karyotypus.