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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 + ...

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Autores principales: Mohd Jamil, Amilia Afzan, Chua, Wang Ching, Valayudham, Vairavan Ramesh, Hassan, Hasyma Abu, Jalal, Hamidah Abdul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
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.
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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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