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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Main Authors: Mohd Jamil, Amilia Afzan, Chua, Wang Ching, Valayudham, Vairavan Ramesh, Abu Hassan, Hasyma, Abdul Jalal, Hamidah
Format: Article
Language:English
Published: Elsevier Inc. 2024
Online Access:http://psasir.upm.edu.my/id/eprint/105870/1/1-s2.0-S1930043323007781-main.pdf
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author Mohd Jamil, Amilia Afzan
Chua, Wang Ching
Valayudham, Vairavan Ramesh
Abu Hassan, Hasyma
Abdul Jalal, Hamidah
author_facet Mohd Jamil, Amilia Afzan
Chua, Wang Ching
Valayudham, Vairavan Ramesh
Abu Hassan, Hasyma
Abdul Jalal, Hamidah
author_sort Mohd Jamil, Amilia Afzan
collection UPM
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 upm.eprints-1058702024-07-15T04:19:53Z http://psasir.upm.edu.my/id/eprint/105870/ Fetal acalvaria with lateral cleft lip and palate: a rare presentation Mohd Jamil, Amilia Afzan Chua, Wang Ching Valayudham, Vairavan Ramesh Abu Hassan, Hasyma Abdul Jalal, Hamidah 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 Inc. 2024 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/105870/1/1-s2.0-S1930043323007781-main.pdf Mohd Jamil, Amilia Afzan and Chua, Wang Ching and Valayudham, Vairavan Ramesh and Abu Hassan, Hasyma and Abdul Jalal, Hamidah (2024) Fetal acalvaria with lateral cleft lip and palate: a rare presentation. Radiology Case Reports, 19 (1). pp. 374-377. ISSN 1930-0433 https://www.sciencedirect.com/science/article/pii/S1930043323007781 10.1016/j.radcr.2023.10.036
spellingShingle Mohd Jamil, Amilia Afzan
Chua, Wang Ching
Valayudham, Vairavan Ramesh
Abu Hassan, Hasyma
Abdul Jalal, Hamidah
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
url http://psasir.upm.edu.my/id/eprint/105870/1/1-s2.0-S1930043323007781-main.pdf
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