6533b83afe1ef96bd12a7af6
RESEARCH PRODUCT
Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.
M. CammarataA. Lo PrestiL. GiuffreGiovanni CorselloP. ButtittaEmiliano MaresiL. Zumpanisubject
MaleDown syndromePediatricsmedicine.medical_specialtyGenetic counselingTrisomyBiologyHoloprosencephalyHoloprosencephalymedicineHumansAbnormalities MultipleMULTIPLE MALFORMATIONSPathologicalGenetics (clinical)Chromosome AberrationsChromosomes Human Pair 13Infant NewbornAnatomyCyclopiamedicine.diseaseFaceCebocephalyFemaleDown SyndromeTrisomyHeaddescription
Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and prevention of holoprosencephaly.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1990-10-01 | American journal of medical genetics |