Introduction: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects.
Objective: To investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome.
Materials And Methods: Clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment.
Results: Dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients.
Conclusions: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.
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http://dx.doi.org/10.1590/s1678-77572006000600014 | DOI Listing |
Taiwan J Obstet Gynecol
January 2025
Gynecology and Obstetrics Clinic "Narodni front", Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Objective: Prenatal detection of complex chromosomal rearrangements (CCR) is extremely rare, but is of great clinical importance, since CCR can be causative of different congenital disorders. We present an exceptionally rare case of prenatally diagnosed Saethre-Chotzen syndrome (SCS) rising as a consequence of chromothripsis involving chromosomes 5, 7 and 11 and deletion of TWIST1 gene.
Case Report: Brachycephaly, hypertelorism, flat face, micrognathia, relative macroglossia and small posterior fossa were noted on ultrasound examination at 28th gestational week.
J Craniofac Surg
January 2025
Division of Pediatric Craniofacial Surgery, Nemours Children's Health, Jacksonville, FL.
External rigid distraction is an established method for achieving subcranial Le Fort III advancement in severe syndromic craniosynostosis. Craniofacial surgeons commonly use halo-type devices for these corrections, as they allow for multiple vectors of pull and facilitate larger midfacial advancements. Although most complications related to their use involve pin displacement or infection, rare complications such as skull fractures have been reported.
View Article and Find Full Text PDFAsian J Surg
December 2024
Department of Faculty Surgery, St. Petersburg State University, Saint Petersburg, 199106, Russia; Department of General Surgery, Shandong Linglong Yingcheng Hospital, Zhaoyuan, Yantai, China. Electronic address:
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.
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