Alobar Holoprosencephaly Associated with Meningomyelocoele and Omphalocoele: An Unusual Coexistence
| Autor: | Pragati Sathe, Naina Goel, Tejaswini Waghmare, Bhuvaneshwari M Kandalkar |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Clinical Biochemistry lcsh:Medicine Autopsy 03 medical and health sciences Holoprosencephaly Pathology Section medicine cranio facial malformations Fetus Omphalocele congenital anomalies business.industry lcsh:R General Medicine Micropenis Anatomy medicine.disease Surgery Hydrocephalus holoprosencephaly 030104 developmental biology Gestation business Congenital disorder |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 10, Iss 11, Pp ED23-ED24 (2016) |
| ISSN: | 2249-782X |
| DOI: | 10.7860/jcdr/2016/22453.8932 |
| Popis: | Holoprosencephaly is a rare congenital disorder which results from failure of cleavage or incomplete differentiation of the forebrain structures at various levels or to various degrees. Depending on the degree of involvement, it is classified into 4 types: Alobar, Semilobar, Lobar and Middle interhemispheric fusion variant. A male child was born to 28-year-old female at 34 weeks of gestation. The mother on antenatal follow-up was detected to have a fetus with multiple congenital anomalies on Ultrasonography (USG) done at 34weeks of gestation. The baby died after 12 hours of birth. A complete autopsy was performed. On external examination, multiple congenital anomalies were seen including cleft lip and palate, absent nasal bridge, proptosis of right eye, micropenis, left undescended testis, bilateral rocker bottom feet, omphalocele and sacral meningomyelocele. Internal examination of the brain revealed hydrocephalus and features of alobar holoprosencephaly. This case is presented for its rarity. In addition, it is unusual for a fetus with alobar holoprosencephaly to survive till term as this is the most severe type. Though facial malformations are usually present in a case of holoprosencephaly, its association with sacral meningomyelocele and omphalocele has rarely been described in literature. |
| Databáze: | OpenAIRE |
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