Holoprosencephaly with multiple anomalies of the craniofacial bones-an autopsy report
| Autor: | D Ranga Rao, V Kalyan Chakravarthy, D Naveen Chandar Rao, Eslavath Aruna |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
hypotelorism
Pathology medicine.medical_specialty Clinical Biochemistry lcsh:Medicine Case Report anophthalmia craniofacial arrhinia Holoprosencephaly Hypotelorism medicine Craniofacial Anophthalmia business.industry synostosis lcsh:R Arrhinia General Medicine holoprocencephaly Synostosis medicine.disease Hypoplasia Frontal bone anomalies business |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 7, Iss 8, Pp 1722-1724 (2013) |
| ISSN: | 2249-782X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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