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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http://dx.doi.org/10.1016/j.radcr.2023.10.036 | DOI Listing |
Clin Genet
December 2024
Imagine Institute, Paris, France.
Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.
View Article and Find Full Text PDFJ Oral Maxillofac Surg
December 2024
Professor, Faculty of Dentistry of Bauru, Department of Surgery, Stomatology, Pathology and Radiology, University of São Paulo, Bauru, São Paulo, Brazil; Professor, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil.
Background: Patients with cleft lip and palate (CLP) often exhibit unique anatomical variations in the pterygoid plates, which can influence fracture patterns at the pterygomaxillary junction (PMJ) during Le Fort I osteotomy. These differences may increase the risk of unfavorable fractures, complicating surgery and recovery.
Purpose: The study purpose was to measure the association between the osteotomy level with the PMJ fracture patterns in CLP patients undergoing Le Fort I osteotomy.
Dental Press J Orthod
December 2024
Universidade Federal do Rio de Janeiro, Faculdade de Odontologia, Departamento de Patologia e Diagnóstico Oral (Rio de Janeiro, RJ, Brazil).
Introduction: The early diagnosis of mandibular asymmetry (MA) in patients with unilateral cleft lip and palate (UCLP) can contribute to its treatment.
Objective: The aim of this study was to evaluate the occurrence and the extent of MA in UCLP patients at different growth stages.
Methods: Cone-beam computed tomography (CBCT) of 47 UCLP patients were included, and divided into two groups (prepubertal stage and pubertal stage).
J Neurochem
January 2025
Department of Biotechnology and Life Sciences, Laboratory of Cellular and Molecular Physiology, University of Insubria, Varese, Italy.
Cleft Palate Craniofac J
December 2024
Pediatric Plastic Surgery, John R. Oishei Children's Hospital, Buffalo, NY, USA.
Velopharyngeal insufficiency (VPI) is common in patients with a repaired cleft palate. 18% to 20% of patients who undergo superiorly based pharyngeal flap for VPI may require a revision procedure due to persistent hypernasality. One solution to persistent VPI is flap revision, but there is a paucity of revision techniques described in the literature.
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