European Archives of Paediatric Dentistry

, Volume 16, Issue 1, pp 63–66 | Cite as

Clinical and oral findings of a patient with Simpson–Golabi–Behmel syndrome

  • M. BayramEmail author
  • M. Yildirim
  • F. Seymen
Case Report



The Simpson–Golabi–Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities. The aim of this case report is to present clinical and oral findings of an 8-year-old boy who had been diagnosed with SGBS.

Case report

This patient had supernumerary nipples on the right side, cubitus valgus webbed fingers, scoliosis, umbilical hernia, a coarse face, macrocephaly, hypertelorism, a short broad nose, a wide mouth, a straight facial profile and hearing loss. The patient also had macroglossia, diastemas, over-retained primary tooth, absent mandibular permanent central incisors, and highly arched palate. Lateral cephalometric analysis revealed a large anterior cranial base, a large maxilla and mandible, a large inferior face height, and skeletal Class III jaw relationship.


After extraction of the over-retained primary central tooth, a partial prosthesis was fabricated in order to maintain function. The patient has been recalled regularly at 6-month intervals for 2 years. Over the following years the prosthesis was replaced due to facial growth.


Long term follow-up is essential for the patient with SGBS. Preventive dental care, including oral hygiene instructions, diet counselling and the use of fluoride has been implemented.


Simpson–Golabi–Behmel syndrome Overgrowth syndrome Oral findings 


  1. Azarpazhooh A, Main PA. Fluoride varnish in the prevention of dental caries in children and adolescents: a systematic review. J Can Dent Assoc. 2008;74(1):73–9.PubMedGoogle Scholar
  2. Behmel A, Ploch E, Rosenkranz W. A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome? Hum Genet. 1984;67:409–13.PubMedCrossRefGoogle Scholar
  3. Choyke PL, Siegel MJ, Craft AW, Green DM, DeBaun MR. Screening for Wilms tumor in children with Beckwith–Wiedemann syndrome or idiopathic hemihypertrophy. Med Pediatr Oncol. 1999;32:196–200.PubMedCrossRefGoogle Scholar
  4. Coppin B, Moore I, Hatchwell E. Extending the overlap of three congenital overgrowth syndromes. Clin Genet. 1997;51:375–8.PubMedCrossRefGoogle Scholar
  5. Golabi M, Rosen L. A new X-linked mental retardation overgrowth syndrome. Am J Med Genet. 1984;17:345–58.PubMedCrossRefGoogle Scholar
  6. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. Oxford: Oxford University Press; 1990. p. 666–73.Google Scholar
  7. Gruelich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist. In: Palo A, editor. Human Growth. Stanford: Stanford University Press; 1959. p. 54–5.Google Scholar
  8. Kondo I, Mori Y, Kuwajima K. Weaver syndrome in two Japanese children. Am J Med Genet. 1991;41:221–4.PubMedCrossRefGoogle Scholar
  9. Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet C Semin Med Genet. 2005;137C:53–71.PubMedCrossRefGoogle Scholar
  10. Li M, Shuman C, Fei YL, et al. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson–Golabi–Behmel syndrome. Am J Med Genet. 2001;102(2):161–8.PubMedCrossRefGoogle Scholar
  11. Lin AE, Neri G, Hughes-Benzie R, Weksberg R. Cardiac anomalies in the Simpson–Golabi–Behmel syndrome. Am J Med Genet. 1999;83:378–81.PubMedCrossRefGoogle Scholar
  12. Marinho VCC, Higgins JPT, Logan S, Sheiham A. Fluoride varnishes for preventing dental caries in children and adolescents. Cochrane Database Syst Rev. 2002;(3) Art No: CD002279.Google Scholar
  13. Marinho VC, Higgins JP, Logan S, Sheiham A. Fluoride mouth rinses for preventing dental caries in children and adolescents. Cochrane Database Syst Rev. 2003;(3) CD002284.Google Scholar
  14. Neri G, Gurrieri F, Zanni G, Lin A. Clinical and molecular aspects of the Simpson–Golabi–Behmel syndrome. Am J Med Genet. 1998;79:279–83.PubMedCrossRefGoogle Scholar
  15. Okamoto N, Yagi M, Imura K, Wada Y. A clinical and molecular study of a patient with Simpson–Golabi–Behmel syndrome. J Hum Genet. 1999;44:327–9.PubMedCrossRefGoogle Scholar
  16. Pilia G, Hughes-Benzie RM, McKenzie A, et al. Mutations in GPC3, a glypican gene, cause the Simpson–Golabi–Behmel overgrowth syndrome. Nat Genet. 1996;12:241–7.PubMedCrossRefGoogle Scholar
  17. Sakazume S, Okamoto N, Yamamoto T, et al. GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome. Am J Med Genet A. 2007;143A(15):1703–7.PubMedCrossRefGoogle Scholar
  18. Simpson JL, Landey S, New M, German J. A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Orig Artic Ser. 1975;11:18–24.PubMedGoogle Scholar
  19. Taniyama T, Kitai N, Iguchi Y, et al. Craniofacial morphology in a patient with Simpson–Golabi–Behmel syndrome. Cleft Palate Craniofac J. 2003;40(5):550–5.PubMedCrossRefGoogle Scholar
  20. Veugelers M, Cat BD, Muyldermans SY, et al. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson–Golabi–Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet. 2000;9(9):1321–8.PubMedCrossRefGoogle Scholar
  21. Young EL, Wishnow R, Nigro MA. Expanding the clinical picture of Simpson–Golabi–Behmel syndrome. Pediatr Neurol. 2006;34(2):139–42.PubMedCrossRefGoogle Scholar

Copyright information

© European Academy of Paediatric Dentistry 2014

Authors and Affiliations

  1. 1.Department of Pedodontics, School of DentistryIstanbul Medipol UniversityIstanbulTurkey
  2. 2.Department of Pedodontics, Faculty of DentistryIstanbul UniversityIstanbulTurkey

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