A retrospective population based survey of patients born with holoprosencephaly in South-Eastern Hungary between July 1, 1992 and June 30, 2006 was performed. All live birth cases with craniofacial and non-craniofacial abnormalities were included in the study. A total of 9 patients (5 boys and 4 girls) were found with holoprosencephaly among 185 486 live births, which correspond to a birth prevalence of 0.49 per 10,000 live births (95% confidence interval [CI]: 0.17-0.80). These figures were similar to those ones found in New York State and several European regions. In our series one newborn had trisomy 13. Eight patients did not have chromosomal abnormalities on routine testing, 4 of them had craniofacial abnormalities only and another 4 showed non-craniofacial anomalies as well. Three patients died in the neonatal period and another one in childhood. Patients surviving the neonatal period had intellectual and motor handicap, and epilepsy.
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