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Fetal acalvaria with lateral cleft lip and palate: A rare presentation
We report a case of acalvaria diagnosed prenatally via ultrasound and MRI. Acalvaria is a rare, fatal congenital condition characterized by the absence of flat bones of the cranial vault, dura mater, and its associated muscles with an intact central nervous system. A 41-year-old gravida 5, para 2 + ...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10682520/ https://www.ncbi.nlm.nih.gov/pubmed/38033668 http://dx.doi.org/10.1016/j.radcr.2023.10.036 |
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author | Mohd Jamil, Amilia Afzan Chua, Wang Ching Valayudham, Vairavan Ramesh Hassan, Hasyma Abu Jalal, Hamidah Abdul |
author_facet | Mohd Jamil, Amilia Afzan Chua, Wang Ching Valayudham, Vairavan Ramesh Hassan, Hasyma Abu Jalal, Hamidah Abdul |
author_sort | Mohd Jamil, Amilia Afzan |
collection | PubMed |
description | We report a case of acalvaria diagnosed prenatally via ultrasound and MRI. Acalvaria is a rare, fatal congenital condition characterized by the absence of flat bones of the cranial vault, dura mater, and its associated muscles with an intact central nervous system. A 41-year-old gravida 5, para 2 + 2A, presented to us at 26 weeks gestation age (GA) with ultrasound findings of a fragile and hypomineralized skull in the fetus. The patient was not keen on whole-axon sequencing. Fetus magnetic resonance imaging (MRI) revealed large cutaneous/skull nonvisualization of the fetus skull, possibly acrania without anencephaly. She delivered via cesarean section at 37 weeks because of two previous cesarean sections. A female infant weighing 2650 g was born with an intact sac to minimize excessive external pressure to the brain tissue. A diagnosis of acalvaria with bilateral lateral cleft lip and palate was made postdelivery. The infant was managed conservatively per multidisciplinary discussion and expired 3 weeks later. |
format | Online Article Text |
id | pubmed-10682520 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-106825202023-11-30 Fetal acalvaria with lateral cleft lip and palate: A rare presentation Mohd Jamil, Amilia Afzan Chua, Wang Ching Valayudham, Vairavan Ramesh Hassan, Hasyma Abu Jalal, Hamidah Abdul Radiol Case Rep Case Report We report a case of acalvaria diagnosed prenatally via ultrasound and MRI. Acalvaria is a rare, fatal congenital condition characterized by the absence of flat bones of the cranial vault, dura mater, and its associated muscles with an intact central nervous system. A 41-year-old gravida 5, para 2 + 2A, presented to us at 26 weeks gestation age (GA) with ultrasound findings of a fragile and hypomineralized skull in the fetus. The patient was not keen on whole-axon sequencing. Fetus magnetic resonance imaging (MRI) revealed large cutaneous/skull nonvisualization of the fetus skull, possibly acrania without anencephaly. She delivered via cesarean section at 37 weeks because of two previous cesarean sections. A female infant weighing 2650 g was born with an intact sac to minimize excessive external pressure to the brain tissue. A diagnosis of acalvaria with bilateral lateral cleft lip and palate was made postdelivery. The infant was managed conservatively per multidisciplinary discussion and expired 3 weeks later. Elsevier 2023-11-10 /pmc/articles/PMC10682520/ /pubmed/38033668 http://dx.doi.org/10.1016/j.radcr.2023.10.036 Text en © 2023 The Authors. Published by Elsevier Inc. on behalf of University of Washington. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Mohd Jamil, Amilia Afzan Chua, Wang Ching Valayudham, Vairavan Ramesh Hassan, Hasyma Abu Jalal, Hamidah Abdul Fetal acalvaria with lateral cleft lip and palate: A rare presentation |
title | Fetal acalvaria with lateral cleft lip and palate: A rare presentation |
title_full | Fetal acalvaria with lateral cleft lip and palate: A rare presentation |
title_fullStr | Fetal acalvaria with lateral cleft lip and palate: A rare presentation |
title_full_unstemmed | Fetal acalvaria with lateral cleft lip and palate: A rare presentation |
title_short | Fetal acalvaria with lateral cleft lip and palate: A rare presentation |
title_sort | fetal acalvaria with lateral cleft lip and palate: a rare presentation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10682520/ https://www.ncbi.nlm.nih.gov/pubmed/38033668 http://dx.doi.org/10.1016/j.radcr.2023.10.036 |
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