Case Report
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Year 2022, Volume: 49 Issue: 3, 139 - 143, 31.12.2022
https://doi.org/10.52037/eads.2022.0036

Abstract

References

  • 1- Ballini A, Cantore S, Tullo D, Desiate A. Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. J Med Case Rep. 2011;5:38. Published 2011 Jan 27.
  • 2- Dubowitz, V. (1965). Familial low birthweight dwarfism with an unusual facies and a skin eruption. Journal of Medical Genetics, 2(1), 12–17.
  • 3- Garrocho-Rangel JA, Bueno-Rubio GA, Martínez-Sandoval B, Ruiz-Rodríguez MS, Santos-Diaz MA, Pozos-Guillén AJ. Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. J Clin Pediatr Dent. 2012;37(2):203-206.
  • 4- Wilroy RS, Tipton RE, Summit RL. The Dubowitz syndrome. Am J Med Genet 1978;2:275-284.
  • 5- Wilhelm OL, Mehes K. Dubowitz syndrome. Acta Paediatr Hung 1986;27:67-75.
  • 6- Tsukahara M, Opitz JM. Dubowitz syndrome: Review of 141 cases including 36 previously unreported patients. Am J Med Genet 1996;63:277-289.
  • 7- Soyer AD, McConnell JR. Progressive scoliosis in Dubowitz syndrome. Spine (Phila Pa 1976). 1995;20(21):2335-2337.
  • 8- Hansen KE, Kirkpatrick SJ, Laxova R. Dubowitz syndrome: Long-term follow-up of an original patient. Am J Med Genet 1995;55:161-164.
  • 9- Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M. Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?. J Med Genet. 1992;29(1):68-69. doi:10.1136/jmg.29.1.68
  • 10- Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. Huber RS, Houlihan D, Filter K. J Clin Med Res. 2011;3:147–155.
  • 11- Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. Martinez FJ, Lee JH, Lee JE, et al. J Med Genet. 2012;49:380–385.
  • 12- Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Gruhn B, Seidel J, Zintl F, et al. Orphanet J Rare Dis. 2007;2:5.
  • 13- Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. Darcy DC, Rosenthal S, Wallerstein RJ. Case Rep Genet. 2011;2011:306072.
  • 14- Beer M, Fiedler F. Anaesthesia and orphan disease: Dubowitz syndrome. Eur J Anaesthesiol. 2019;36(8):620-622.
  • 15- Swartz KR, Resnick D, Iskandar BJ, Wargowski D, Brockmeyer D, Opitz J. Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review. Pediatr Neurosurg. 2003;38(5):238-243.

Orthodontic Evaluation and Craniofacial Characteristics of a Patient with Dubowitz Syndrome: A Case Report

Year 2022, Volume: 49 Issue: 3, 139 - 143, 31.12.2022
https://doi.org/10.52037/eads.2022.0036

Abstract

This case report presents the orthodontic evaluation and treatment planning of a patient with Dubowitz syndrome, an autosomal recessive inherited and rare genetic disorder characterized by microcephaly, growth retardation, high sloping forehead, facial asymmetry, micrognathia, deep palate, blepharophimosis, sparse hair and eyebrows, low ear and mental retardation. The male patient, with a chronological age of 8 years and 2 days, was referred to our clinic due to severe overjet and mandibular retrognathia. Radiographic and clinical evaluations revealed deep palate, narrowness of maxillary and mandibular arches, mandibular micrognathia, speech difficulties and mixed breathing. The patient's treatment planning was aimed at function and phonation and included the use of a twin block appliance with expansion screw in both parts and simultaneous use of occipital headgear (350 g force on one side). It was aimed to positively direct the growth in the craniofacial structure by making use of the continuation of the patient's growth and development period, and to prevent interventions such as surgical-assisted rapid maxillary expansion and orthognathic surgery, which are invasive approaches in adulthood.

References

  • 1- Ballini A, Cantore S, Tullo D, Desiate A. Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. J Med Case Rep. 2011;5:38. Published 2011 Jan 27.
  • 2- Dubowitz, V. (1965). Familial low birthweight dwarfism with an unusual facies and a skin eruption. Journal of Medical Genetics, 2(1), 12–17.
  • 3- Garrocho-Rangel JA, Bueno-Rubio GA, Martínez-Sandoval B, Ruiz-Rodríguez MS, Santos-Diaz MA, Pozos-Guillén AJ. Orocraniofacial findings and dental management of a pediatric patient with Dubowitz syndrome. J Clin Pediatr Dent. 2012;37(2):203-206.
  • 4- Wilroy RS, Tipton RE, Summit RL. The Dubowitz syndrome. Am J Med Genet 1978;2:275-284.
  • 5- Wilhelm OL, Mehes K. Dubowitz syndrome. Acta Paediatr Hung 1986;27:67-75.
  • 6- Tsukahara M, Opitz JM. Dubowitz syndrome: Review of 141 cases including 36 previously unreported patients. Am J Med Genet 1996;63:277-289.
  • 7- Soyer AD, McConnell JR. Progressive scoliosis in Dubowitz syndrome. Spine (Phila Pa 1976). 1995;20(21):2335-2337.
  • 8- Hansen KE, Kirkpatrick SJ, Laxova R. Dubowitz syndrome: Long-term follow-up of an original patient. Am J Med Genet 1995;55:161-164.
  • 9- Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M. Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?. J Med Genet. 1992;29(1):68-69. doi:10.1136/jmg.29.1.68
  • 10- Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features. Huber RS, Houlihan D, Filter K. J Clin Med Res. 2011;3:147–155.
  • 11- Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. Martinez FJ, Lee JH, Lee JE, et al. J Med Genet. 2012;49:380–385.
  • 12- Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Gruhn B, Seidel J, Zintl F, et al. Orphanet J Rare Dis. 2007;2:5.
  • 13- Chromosome deletion of 14q32.33 detected by array comparative genomic hybridization in a patient with features of dubowitz syndrome. Darcy DC, Rosenthal S, Wallerstein RJ. Case Rep Genet. 2011;2011:306072.
  • 14- Beer M, Fiedler F. Anaesthesia and orphan disease: Dubowitz syndrome. Eur J Anaesthesiol. 2019;36(8):620-622.
  • 15- Swartz KR, Resnick D, Iskandar BJ, Wargowski D, Brockmeyer D, Opitz J. Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review. Pediatr Neurosurg. 2003;38(5):238-243.
There are 15 citations in total.

Details

Primary Language English
Subjects Dentistry
Journal Section Case report articles
Authors

Zeynep Gurpinar Gizli 0000-0002-7639-4494

Ayşe Altuğ Demiralp 0000-0002-8351-2460

Publication Date December 31, 2022
Submission Date August 4, 2022
Published in Issue Year 2022 Volume: 49 Issue: 3

Cite

Vancouver Gurpinar Gizli Z, Altuğ Demiralp A. Orthodontic Evaluation and Craniofacial Characteristics of a Patient with Dubowitz Syndrome: A Case Report. EADS. 2022;49(3):139-43.