Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype.
Case Report: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c.755C>G, p.Ser252Trp) in the FGFR2 gene was identified.
Conclusions: Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counseling for the family.
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Craniosynostosis: Current Evaluation and Management.
Ann Plast Surg
December 2024
Department of Neurological Surgery, Vanderbilt University Medical Center.
Craniosynostosis is characterized by the premature fusion of one or more cranial sutures, which can lead to abnormal skull shape and restricted skull growth. Although most cases are present in isolation, some are associated with genetic syndromes, such as Pfeiffer, Muenke, Couzon, Apert, and others, which increases the complexity of care. Today, a spectrum of surgical options to treat craniosynostosis are available and range from traditional open cranial vault remodeling to newer and less invasive suturectomy-based techniques.
View Article and Find Full Text PDFAnomalous 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.
Apert syndrome and obstructive sleep apnea: Timing for midface surgery.
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Department of Comprehensive Plastic Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
Article Synopsis
- The study investigates the best timing for midface surgery in patients with Apert syndrome and Obstructive Sleep Apnea (OSA).
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- Although surgery around ages 6 to 7 is common and often effective, the ideal timing for seriously affected children is still debated, prompting calls for better research collaboration.
Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome.
Diagnostics (Basel)
July 2024
Doctoral School, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Article Synopsis
- Apert syndrome is an inherited disorder characterized by craniosynostosis, facial deformities, and limb anomalies, with autosomal dominant inheritance.
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- Early diagnosis and parental counseling are crucial for managing cases of Apert syndrome and understanding its severity.
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