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Holoprosencephaly: examples of clinical variability and etiologic heterogeneity
G Corsello1, P Buttitta, M Cammarata
1Patologia Neonatale Università di Palermo, Italy.
Insights
Holoprosencephaly shows significant clinical variability. Diagnostic studies like ultrasonography and cytogenetics are crucial for understanding causes, genetic counseling, and preventing this congenital condition.
Area of Science:
- Medical Genetics
- Developmental Biology
- Neonatal Medicine
Background:
- Holoprosencephaly (HPE) presents with diverse clinical manifestations, including cyclopia, cebocephaly, and premaxillary agenesis.
- The condition's heterogeneity complicates diagnosis and management.
- Associated chromosomal aberrations are frequently observed in HPE cases.
Abstract:
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.