What is the incidence of holoprosencephaly?
نویسندگان
چکیده
The incidence of holoprosencephaly with normal chromosomes has been estimated at between 1 in 16 000 and 1 in 53 394 live births. It has been found that during a 3-year period in the Bristol and Weston Health District there were six cases of holoprosencephaly, two of which were familial, and these cases are described. This represents an incidence of 1 in 5200 and during the preceding 3-year period the incidence in the same area was 1 in 14 520 births.
منابع مشابه
Holoprosencephaly: A Case Report and Review of Prenatal Sonographic Findings
Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriat...
متن کاملThe neonate was born with holoprosencephaly
holoprosencephaly is a rare congenital brain malformation resulting from failure of diverticulation and cleavage of primitive prosencephalon which occurs at 4 - 8th week of gestation and is usually associated with multiple midline facial anomalies. it is the most common forebrain developmental anomaly in humans with prevalence of 1/16,000 in live borns, an incidence as high as 1:250 in conceptu...
متن کاملAlobar holoprosencephaly: A case report
Holoprosencephaly (HPE) is a rare congenital brain malformation associated with multiple midline facial defects. This anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. HPE is the most common forebrain developmental anomaly in human with the incidence rate of 0.49-1.2 cases per 10,000-20,000 term births. In this study,...
متن کاملHoloprosencephaly: A Case Report and Review of Prenatal Sonographic Findings
Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriat...
متن کاملHigh Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly.
Holoprosencephaly is the most common malformation of the forebrain and typically results in severe neurocognitive impairment with accompanying midline facial anomalies. Holoprosencephaly is heterogeneous and may be caused by chromosome aberrations or environmental factors, occur in the context of a syndrome or be due to heterozygous mutations in over 10 identified genes. The presence of these m...
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عنوان ژورنال:
- Journal of medical genetics
دوره 21 1 شماره
صفحات -
تاریخ انتشار 1984