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Anomalous venous collaterals in Apert and Crouzon syndromes and their relationship to ventricle size and increased intracranial pressure.
J Neurosurg Pediatr
November 2024
3Neurosurgery, Erasmus University Medical Center, Rotterdam, The Netherlands.
Objective: The exact association between the frequently present anomalous intracranial venous vasculature, emissary collaterals, ventriculomegaly, and increased intracranial pressure (ICP) in children with Apert and Crouzon syndromes remains an enigma. This study aimed to evaluate the association between the aberrant venous system and ventricle size and increased ICP, and to assess the development of the venous structures over time.
Methods: This retrospective cohort study included all patients with Apert or Crouzon syndrome with available CT venography (CTV) scans of the brain.
Posterior Column Release and Lengthening with a Magnetic Growing Rod Construct in Severe Congenital Thoracic Fusion: A Report of 2 Cases.
JBJS Case Connect
October 2024
Department of Orthopedics, Children's Hospital Colorado, Aurora, Colorado.
Case: We describe treatment of severe multilevel congenital thoracic fusion in a 3-year-old girl with Apert Syndrome by posterior element excision, posterior column osteotomies, and gradual distraction with magnetically controlled growing rods (MCGR) with 3-year follow-up. We also describe short-term follow-up with similar management in an 8-year-old patient with a congenitally fused thoracic spine from Jarcho-Levin syndrome.
Conclusion: Posterior element resection and targeted posterior column osteotomies combined with gradual distraction with MCGR offers a promising treatment course for children with severe thoracic insufficiency syndrome derived from congenital fusions.
Long-term photogrammetric outcomes of midface advancement in Apert syndrome: are we nearing normal?
Childs Nerv Syst
December 2024
Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.
Background: The aesthetic goals of midface surgery in Apert syndrome are to correct the multi-planar midface deficiency and normalize facial ratios. This study characterizes the long-term photogrammetric outcomes of midface advancement in Apert syndrome.
Methods: Patients with Apert syndrome who underwent midface distraction from 2000 to 2023 were retrospectively reviewed.
This paper discusses a longitudinal study with children with Apert syndrome aged between 4 and 11 years. There has long been an interest in the role of fingers in the development of early number skills and arithmetic. As children with Apert syndrome are born with complex fusions of their fingers, they have to undergo several surgical procedures in order to obtain individuated fingers.
View Article and Find Full Text PDFApert 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.
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