J Pediatr Genet 2018; 07(02): 092-096
DOI: 10.1055/s-0037-1618601
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl

Zuhal Kırzıoglu
1   Department of Paediatric Dentistry, The University of Süleyman Demirel, Isparta, Turkey
,
Esra Oz
1   Department of Paediatric Dentistry, The University of Süleyman Demirel, Isparta, Turkey
› Author Affiliations
Further Information

Publication History

16 July 2017

04 December 2017

Publication Date:
16 January 2018 (online)

Abstract

Oral-facial-digital syndrome (OFDS) is a group of congenital anomalies with 13 different forms. OFDS type 1 (OFDS1) is a developmental genetic anomaly related to the X chromosome, that is often seen in girls, and affects the face, oral cavity, and extremities. In this study, we discuss the oral findings of a 6-year-old girl with OFDS1 and her situation after 2.5 years.

 
  • References

  • 1 Dodge JA, Kernohan DC. Oral-facial-digital syndrome. Arch Dis Child 1967; 42 (222) 214-219
  • 2 Toriello HV, Franco B. Oral-facial-digital syndrome type I. In: Pagon RA, Bird TC, Dolan CR, Stephens K. , eds. GeneReviews. Seattle: University of Washington; 1993. ; 2002. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1188/ . Accessed March 12, 2017
  • 3 Ferrante MI, Giorgio G, Feather SA. , et al. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001; 68 (03) 569-576
  • 4 Del Giudice E, Macca M, Imperati F. , et al; Oral-Facial-Digital Type I (OFD1) Collaborative Group. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet J Rare Dis 2014; 9: 74
  • 5 King NM, Sanares AM. Oral-facial-digital syndrome, type I: a case report. J Clin Pediatr Dent 2002; 26 (02) 211-215
  • 6 Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B. ; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat 2008; 29 (10) 1237-1246
  • 7 Southerland JH, Gill DG, Gangula PR, Halpern LR, Cardona CY, Mouton CP. Dental management in patients with hypertension: challenges and solutions. Clin Cosmet Investig Dent 2016; 8: 111-120
  • 8 Tagliani MM, Gomide MR, Carrara CF. Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination. Cleft Palate Craniofac J 2010; 47 (02) 162-166
  • 9 Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet 2009; 151C (04) 318-325
  • 10 Dhull KS, Acharya S, Mohanty M, Dhull RS, Panda S. Oro-facial-digital syndrome type 1: a case report. J Indian Soc Pedod Prev Dent 2014; 32 (02) 152-155
  • 11 Silva Sousa YTC, Kanaan DD. The oro-facial-digital syndrome--manifestations in the oral cavity--case report. Braz Dent J 1994; 5 (01) 71-74
  • 12 Gorlin RJ, Cohen MM, Rauol CM, Hennekam RM. Syndromes of Head and Neck. 2nd ed. New York, NY: Oxford University Press; 2001: 834
  • 13 Romero M, Franco B, del Pozo JS, Romance A. Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. Cleft Palate Craniofac J 2007; 44 (06) 660-666
  • 14 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res 2013; 24 (01) 132-135
  • 15 Stoll C, Sauvage P. Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene. Ann Genet 2002; 45 (02) 59-62
  • 16 Tuli A, Sachdev V, Singh A, Kumar A. Physical and dental manifestations of oral-facial-digital syndrome type I. J Indian Soc Pedod Prev Dent 2011; 29 (06) (Suppl. 02) S83-S86
  • 17 Oztürk F, Doruk C. Orthodontic treatment of a patient with oral-facial-digital syndrome. Am J Orthod Dentofacial Orthop 2012; 141 (4, Suppl): S110-S118
  • 18 Nagahara K, Miyajima K, Nakamura S, Iizuka T. Orthodontic treatment of an open bite patient with oral-facial-digital syndrome. Am J Orthod Dentofacial Orthop 1996; 110 (02) 137-144