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Apert syndrome: craniofacial challenges and clinical implications.
BMJ Case Rep
July 2024
Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India.
Apert syndrome is a rare acro-cephalo-syndactyly syndrome characterised by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene, as a result of which signals are not received to produce necessary fibrous material necessary for normal cranial sutures. Deformities are generally cosmetic but can affect various functions such as hearing, visual abnormalities, swallowing, writing, etc, so a multidisciplinary approach is needed for their management.
View Article and Find Full Text PDFApert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.
Childs Nerv Syst
August 2024
Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Av. Adolpho Lutz, 100, Caixa Postal: 6028, Campinas, São Paulo, 13084-880, Brazil.
Purpose: Posterior vault distraction osteogenesis (PVDO) has been utilized during the past 15 years to treat a variety of clinical features commonly presented by patients with Apert syndrome. The objective of this study is to determine the efficacy of PVDO in addressing both elevated intracranial pressure (ICP) and ectopia of the cerebellar tonsils (ECT) in young Apert patients. In addition, we aimed to determine the prevalence of hydrocephalus in Apert syndrome patients who underwent PVDO.
View Article and Find Full Text PDFRadiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report.
Radiol Case Rep
September 2022
Department of Radiology, Faculty of Medicine Universitas Airlangga - Universitas Airlangga Hospital, Surabaya, Indonesia.
Pentalogy of Cantrell is a rare syndrome of anomalous malformation. In the present case, the syndrome was initially diagnosed as a complete pentad, including a supra-umbilical abdominal wall defect, a sternal defect, pericardial defects, an anterior diaphragmatic defect, and heart malformation. Diagnosis required several imaging modalities, including computed tomography (CT) and magnetic resonance imaging (MRI).
View Article and Find Full Text PDFA rare case of atlantoaxial rotatory fixation after posterior calvarial vault expansion surgery in a Crouzon patient.
Childs Nerv Syst
November 2022
Department of Pediatric Neurosurgery, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, UK.
Article Synopsis
- Atlantoaxial rotatory fixation (AARF) is a rare condition primarily affecting children, characterized by abnormal head and neck positioning, often due to factors like trauma and respiratory infections.
- A case report describes a 2-year-old boy with Crouzon Syndrome who developed AARF following posterior calvarial vault expansion surgery, highlighting risks associated with such procedures in vulnerable populations.
- Postoperative AARF should be suspected in children exhibiting painful torticollis after craniofacial surgeries, necessitating cautious management of cervical spine alignment during operations.
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.
Case Rep Genet
March 2022
Seattle Children's Research Institute, Center for Developmental Biology and Regenerative Medicine, Seattle, WA, USA.
Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS).
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