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[Prenatal diagnosis of holoprosencephaly with postaxial polydactyly, cardiopathy with normal karyotype]. 1992

A Salamanca, and M C Padilla, and R M Sabatel, and M A Motos, and K Stemper, and F Gonzalez-Gomez
Universitäts-Frauenklinik Granada, Spanien.

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.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011263 Pregnancy Trimester, Third The last third of a human PREGNANCY, from the beginning of the 29th through the 42nd completed week (197 to 294 days) of gestation. Pregnancy, Third Trimester,Trimester, Third,Last Trimester,Last Trimesters,Pregnancies, Third Trimester,Pregnancy Trimesters, Third,Third Pregnancy Trimester,Third Pregnancy Trimesters,Third Trimester,Third Trimester Pregnancies,Third Trimester Pregnancy,Third Trimesters,Trimester, Last,Trimesters, Last,Trimesters, Third
D005260 Female Females
D005313 Fetal Death Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH. Fetal Mummification,Fetal Demise,Death, Fetal,Deaths, Fetal,Demise, Fetal,Fetal Deaths,Mummification, Fetal
D005385 Fingers Four or five slender jointed digits in humans and primates, attached to each HAND. Finger
D006330 Heart Defects, Congenital Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities

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