Holoprosencephaly with multiple anomalies of the craniofacial bones-an autopsy report
E Aruna1, V Kalyan Chakravarthy, D Naveen Chandar Rao
1Assistant Professor, Department of Pathology, Dr. P.S.I.M.S & R.F , China Avutapalli, Andhra Pradesh, India .
Insights
This case report details a rare instance of holoprosencephaly (HPE) and severe craniofacial anomalies in a full-term fetus. The findings highlight the complex genetic and environmental factors contributing to this severe developmental disorder.
Area of Science:
- Developmental Biology
- Medical Genetics
- Teratology
Background:
- Holoprosencephaly (HPE) is a congenital disorder caused by incomplete forebrain cleavage.
- Etiologies include genetic, chromosomal, and environmental teratogenic factors.
Purpose of the Study:
- To report a rare case of holoprosencephaly with multiple craniofacial anomalies.
- To review the literature on HPE and associated craniofacial malformations.
Main Methods:
- Case presentation of a multiparous woman delivering a full-term fetus with HPE.
- Autopsy examination of the fetus to document craniofacial anomalies.
Main Results:
- The fetus presented with severe craniofacial anomalies including frontal bone hypoplasia/synostosis, anophthalmia, absent anterior cranial fossa, maxillary hypoplasia, absent antrum, cleft palate, central hare lip, arrhinia, and hypotelorism.
- Autopsy confirmed these multiple malformations.
Conclusions:
- This case underscores the spectrum of anomalies associated with holoprosencephaly.
- The rarity of such extensive craniofacial involvement emphasizes the need for continued research into HPE etiologies.
Abstract:
Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We are reporting a case of a multiparous woman who was G3,P3,L2, who delivered a full term foetus with holoprosencephaly and multiple craniofacial anomalies. An autopsy was conducted. Multiple anomalies of the craniofacial bones, which include hypoplasia and synostosis of the frontal bone, anophthalmia, absence of the anterior cranial fossa, hypoplasia of the maxillae, an absent antrum, cleft palate, a central hare lip and arrhinia which includes absence of the nostrils and hypotelorism of the eye placodes, were noted. This case is being reported for its rarity and the available literature was reviewed in this respect.
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