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Seckel syndrome: report of a case

  • Figen Seymen1,*,
  • Bahar Tuna1
  • Hulya Kayserili2

1Department of Pedodontics, Faculty of Dentistry, University of İstanbul, Turkey

2Pediatrics Department, Medical Genetics Division, Faculty of Medicine, University of İstanbul, Turkey

DOI: 10.17796/jcpd.26.3.l02834m2827m0132 Vol.26,Issue 3,July 2002 pp.305-309

Published: 01 July 2002

*Corresponding Author(s): Figen Seymen E-mail: figenseymen@superonline.com

Abstract

An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, patho-logic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly. He had borderline mental retardation with normal motor development.

Class II dentoskeletal pattern with mild overjet and open bite, congenitally missing permanent teeth, microdontia, enamel hypoplasia, taurodontism and dentinal dysplasia was observed according to the clinical and radiographic examination. In conclusion, Seckel syndrome is not encountered routinely in dental clinics, this case illustrates the importance of dental care in such a rare condition.

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Figen Seymen,Bahar Tuna,Hulya Kayserili. Seckel syndrome: report of a case. Journal of Clinical Pediatric Dentistry. 2002. 26(3);305-309.

References

1. Parent P, Moulin S, Munck MR, de Parscau L, Alix D. Bird headed dwarfism in Seckel syndrome. Nosologic difficulties. Arch Pediatr 3: 55-62, 1996.

2. Shanske A, Caride DG, Menasse-Palmer L, Bogdanow A, Mar-ion RW. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am J Med Genet 70: 155-158, 1997.

3. Abou-Zahr F, Bejjani B, Kruyt FA, Kurg R, Bacino C, Shapira SK, Youssoufian H. Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. Am J Med Genet: 83: 388-391, 1999.

4. Arnold SR, Spicer D, Kouseff B, Lacson A, Gilbert-Barness E. Seckel-like syndrome in three siblings. Pediatr Dev Pathol 2: 180-187, 1999.

5. Corona MF, Lazzini F, Arioni C, Bertani R, de Toni T. Seckel’s syndrome. Minerva Pediatr 43: 45-47, 1991.

6. Goodship J, Gill H, Carter J, Jackson A, Splitt M, Wright M. Autozygosity mapping of a Seckel syndrome locus to chromo-some 3q22.1-q24. Am J Hum Genet 67: 498-503, 2000.

7. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the head and neck. In: Proportionate short stature syndromes. 3rd ed. Oxford University Press. Oxford, p313, 1990.

8. Jones KL. Recognizable pattern of human malformation. 5th ed. W.B. Saunders Co. Philadelphia, pp108-111, 1997.

9. Pinkham JR. Pediatric dentistry. In: Dummett CO. Anomalies of the developing dentition. 3rd ed. W.B. Saunders Co, Philadelphia, p44, 1999.

10. Butler MG, Hall BD, Maclean RN, Lozzio CB. Do some patients with Seckel syndrome have hematological problems and/or chro-mosome breakage? Am J Med Genet 27: 645-649, 1987.

11. Colli R, Russo F, Bianchi GA. Seckel syndrome: Report of case. Minerva Pediatr 47: 89-91, 1995.

12. Emery A, Rimon D. Principles of medical genetics. In: Cohen M, Fraser C, Gorlin R. Craniofacial disorders. 2nd ed. Churchill Liv-ingstone, p564, 1990.

13. Poznanski AK, Iannaccone G, Pasquino AM, Boscherini B. Radi-ological findings in the hand in Seckel syndrome. Pediatr Radiol 13: 19-24, 1993.

14. Nihill P, Lin LY, Salzmann LB, Stevens S. Esthetic overdenture for a patient with possible Seckel syndrome. Spec Care Dentist 16: 210-213, 1996.

15. Hayani A, Suarez CR, Molnar Z, Lebeau M, Godwin J. Acute myeloid leukaemia in a patient with Seckel syndrome. J Med Genet 31: 148-149, 1994.

16. Sorof JM, Dow-Smith C, Moore PJ. Severe hypertensive seque-lae in a child with Seckel syndrome (bird-like dwarfism). Pediatr Nephrol 13: 343-346, 1999.

17. Howanietz H, Frisch H, Jedlicka-Kohler I, Stegar H. Seckel dwarfism based on a personal case. Klin Padiatr 201: 139-141, 1989.

18. Herman TE, Mendelsohn NJ, Dowton Sb, McAlister WH. Micro-cephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features. Pediatr Radiol 21: 476, 1999.

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