Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation
Acalvaria, defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. Hypocalvaria is its hypoplastic variant where the skull bones are incompletely formed. Due to such a rare incidence, it has been given the status of an orphan diseas...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2018-05-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/11530/35736_CE[Ra]_F(Sh)_PF1(AGAK)_PFA(AK)_PN(SS).pdf |
| _version_ | 1818026644793720832 |
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| author | Deeksha Anand Singla Anand Singla |
| author_facet | Deeksha Anand Singla Anand Singla |
| author_sort | Deeksha Anand Singla |
| collection | DOAJ |
| description | Acalvaria, defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. Hypocalvaria is its hypoplastic variant where the skull bones are incompletely formed. Due to such a rare incidence, it has been given the status of an orphan disease. In this report we present the case of a female neonate with acalvaria born in our institute. The neonate survived a short and stormy course of 12 days as she also had associated co-morbidities. The condition per se has been described as having high mortality rate. Very few living cases, less than ten have been reported till date. |
| first_indexed | 2024-12-10T04:35:17Z |
| format | Article |
| id | doaj.art-663125a061344d2086ced28a21b3dfd4 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-10T04:35:17Z |
| publishDate | 2018-05-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-663125a061344d2086ced28a21b3dfd42022-12-22T02:02:02ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2018-05-01125SD07SD0810.7860/JCDR/2018/35736.11530Acalvaria: Case Report and Review of Literature of a Rare Congenital MalformationDeeksha Anand Singla0Anand Singla1Senior Resident, Department of Pediatrics, GMC, Patiala, Punjab, India.Senior Resident, Department of Surgery, GMC, Patiala, Punjab, India.Acalvaria, defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. Hypocalvaria is its hypoplastic variant where the skull bones are incompletely formed. Due to such a rare incidence, it has been given the status of an orphan disease. In this report we present the case of a female neonate with acalvaria born in our institute. The neonate survived a short and stormy course of 12 days as she also had associated co-morbidities. The condition per se has been described as having high mortality rate. Very few living cases, less than ten have been reported till date.https://jcdr.net/articles/PDF/11530/35736_CE[Ra]_F(Sh)_PF1(AGAK)_PFA(AK)_PN(SS).pdfabsent skull boneshypocalvariaorphan disease |
| spellingShingle | Deeksha Anand Singla Anand Singla Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation Journal of Clinical and Diagnostic Research absent skull bones hypocalvaria orphan disease |
| title | Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation |
| title_full | Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation |
| title_fullStr | Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation |
| title_full_unstemmed | Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation |
| title_short | Acalvaria: Case Report and Review of Literature of a Rare Congenital Malformation |
| title_sort | acalvaria case report and review of literature of a rare congenital malformation |
| topic | absent skull bones hypocalvaria orphan disease |
| url | https://jcdr.net/articles/PDF/11530/35736_CE[Ra]_F(Sh)_PF1(AGAK)_PFA(AK)_PN(SS).pdf |
| work_keys_str_mv | AT deekshaanandsingla acalvariacasereportandreviewofliteratureofararecongenitalmalformation AT anandsingla acalvariacasereportandreviewofliteratureofararecongenitalmalformation |