Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, flat forehead, proptosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features.
How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72.
Cohen MM Jr (Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada), Kreiborg S. New indirect method for estimating the birth prevalence of the Apert's syndrome. Int J Oral Maxillofac Surg 1992 Apr;21(2):107-109.
Moloney DM (Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK), Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO. Exclusive paternal origin of new mutations in Apert's syndrome. Nat Genet 1996 May;13(1):48-53.
Park WJ (Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3914, USA), Theda C, Masteri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW. Analysis of phenotypic features and FGFR2 mutations in Apert's syndrome. Am J Hum Genet 1995 Aug;57(2):321-328.
Slaney SF (Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK), Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, Wilkie AO. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert's syndrome. Am J Hum Genet 1996 May;58(5):923-932.
Ibrahim OA (Department of Pharmacology, New York University School of Medicine, New York, NY 10016, USA), Eliseenkova AV, Plotnikov AN, Yu K, Ornitz DM, Mohammadi M. Structural basis for fibroblast growth factor receptor 2 activation in Apert's syndrome. Proc Natl Acad Sci USA 2001 Jun 19;98(13):7182-7187. Epub 2001 Jun 5.
Cunningham ML (Division of Craniofacial Medicine, University of Washington Department of Pediatrics and Children's Craniofacial Center, Children's Hospital and Regional Medical Center, Seattle, WA, USA. mcunning@u.washington.edu), Seto ML, Ratissontorn C, Heike CL, Hing AV. Syndromic craniosynostosis: From history to hydrogen bounds. Orthod Craniofac Res 2007 May;10(2):67-81.
Lo LJ (Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Taipei, Taiwan), Chen YR. Airway obstruction in severe syndromic craniosynostosis. Ann Plast Surg 1999 Sep;43(3):258-264.
Cohen MM Jr (Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada), Kreiborg S. Visceral anomalies in the Apert's syndrome. Am J Med Genet 1993 Mar 15;45(6):758-760.
Degiovanni CV, Jong C, Woollons A. What syndrome is this? Pediatr Dermatol 2007;24(2):186-188.
Athanasiadis AP (1st Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece. cordocentesis), Zafrakas M, Polychronou P, Florentin-Arar L, Papasozomenou P, Norbury G, Bontis JN. Apert's syndrome: The current role of prenatal ultrasound and genetic analysis in diagnosis and counseling. Fetal Diagn Ther 2008;24(4):495-498. doi: 10.1159/000181186. Epub 2008 Dec 11.
Ibrahim OA (Department of Pharmacology and the Institute of Reconstructive Plastic Surgery, New York University School of Medicine, New York, NY 10016, USA), Chiu ES, Mc Carthy JG, Mohammadi M. Understanding molecular basis of Apert's syndrome. Plast Reconstr Surg 2005 Jan;115(1):264-270.