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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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Detalles Bibliográficos
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
Descripción
Sumario: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.