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      Apert's syndrome: Report of a rare case

      case-report

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          Abstract

          Apert's syndrome (AS), a form of acrocephalosyndactyly, is a rare congenital disorder with autosomal dominant mode of transmission; characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. The rarity of the syndrome and similarity of features with other craniosynostosis syndromes makes it a diagnostic dilemma. Genetic counseling and early intervention form an essential part of treatment. Because of the paucity of reported cases in Indian literature and typical features in oral cavity, a dentist should be competent to diagnose and form a part of the multidisciplinary management team. Here, we report a case of a 14-year-old boy with AS.

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          Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix.

          Tiziano Baroni, Paola Locci, Ennio Becchetti … (2005)
          Apert and Crouzon syndromes are well known craniostenosis. In the last 10 years several studies were performed to provide a better understanding of the etiology and pathogenesis of these diseases. Both have an autosomal dominant mode of transmission, and a mutation in the gene encoding for the fibroblast growth factor receptor 2 (FGFR2) is the cause in most patients. However, the fact that the same mutation can produce a wide range of phenotypic expression makes the mechanism of anomalous development more complex. The extracellular matrix (ECM) is composed of proteins, glycosaminoglycans, and cytokines that are secreted in an autocrine and paracrine manner and are able to modify the ECM. Fibroblast growth factors are complexed with heparan sulfate, a component of the ECM, before binding the FGFR2. Data exist about different expressions of cytokines and ECM macromolecule in craniostenosis-derived fibroblasts and osteoblasts. Changes in ECM composition could explain the altered osteogenic process and account for pathologic variations in cranial development in addition to the FGFR2 mutations.
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            Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.

            Roberto D Fanganiello, Andréa L. Sertié, Eduardo Reis … (2015)
            Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2. Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage. To delineate the gene expression profile involved in this abnormal behavior, we performed a global gene expression analysis of coronal suture periosteal cells from seven AS patients (p.Ser252Trp), and matched controls. We identified 263 genes with significantly altered expression in AS samples (118 upregulated, 145 downregulated; SNR >or= |0.4|, P
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              Case report: orthodontic and dentofacial orthopedic considerations in Apert's syndrome.

              Kevin Rynearson (2000)
              Apert's syndrome is a developmental malformation characterized by: craniosynostosis, a cone-shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations, and syndactyly of the hands and feet. The prodromal characteristic for the typical craniofacial appearance is early craniosynostosis of the coronal suture, the cranial base, and an agenesis of the sagittal suture. These craniofacial characteristics predispose the patient to maxillary transverse and sagittal hypoplasia with concomitant dental crowding, a maxillary pseudocleft palate, and a skeletal and dental anterior open bite. This is a case report of an Apert's syndrome patient with a discussion of the orthodontic and dentofacial orthopedic considerations that influenced the treatment plan.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Oral Maxillofac Pathol
                Journal ID (iso-abbrev): J Oral Maxillofac Pathol
                Journal ID (publisher-id): JOMFP
                Title: Journal of Oral and Maxillofacial Pathology : JOMFP
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0973-029X
                ISSN (Electronic): 1998-393X
                Publication date (Print): May-Aug 2013
                Volume: 17
                Issue: 2
                Pages: 294-297
                Affiliations
                [1] Department of Oral Medicine and Radiology, Ahmedabad Dental College and Hospital, Gandhi Nagar, Ahmedabad, Gujarat, India
                Author notes
                Address for correspondence: Dr. Purv S Patel, 201, Shubh Block, Shukan Towers, Besides Rajvansh Towers, Opp. Judges Bungalows, Bodakdev, Ahmedabad - 380 054, Gujarat, India. E-mail: purv57@ 123456gmail.com
                Article
                Publisher ID: JOMFP-17-294
                DOI: 10.4103/0973-029X.119782
                PMC ID: 3830245
                PubMed ID: 24250097
                SO-VID: ae83b326-76e7-41b3-b6ab-71fb7d026f0c
                Copyright © Copyright: © Journal of Oral and Maxillofacial Pathology
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Pathology
                Keywords: apert's syndrome,craniosynostosis,syndactyly
                Data availability:
                ScienceOpen disciplines: Pathology
                Keywords: apert's syndrome, craniosynostosis, syndactyly

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