Autopsy and Case Reports
https://autopsyandcasereports.org/article/doi/10.4322/acr.2021.315
Autopsy and Case Reports
Clinical Case Report and Review

Oro-facial-digital syndrome type I: a case report with novel features

Shaheen Syed; Poonam Ramnath Sawant; Anita Spadigam; Anita Dhupar

Downloads: 1
Views: 87

Abstract

  Oro-facial-digital syndrome is a group of rare heterogeneous hereditary disorders characterized by abnormalities of the oral cavity, face and digits, along with varying degrees of mental retardation. Currently, Oro-facial-digital syndrome has been classified into 14 types and two additional unclassified variants have been proposed. Amongst the various variants described, Oro-facial-digital syndrome type I is the most common. We report an interesting subclinical sporadic case of Oro-facial-digital syndrome type I in a 21-year-old female patient. Interestingly, our patient presented with a few novel hitherto unreported clinical findings like midline pits in the philtrum area and a hamartomatous proliferation of tissue in the anterior maxillary alveolar gingival region. This case report highlights the importance of prudent histopathological-clinical correlation, which can direct the flow of clinical investigations leading to the detection and diagnosis of unsuspected conditions as learned in this case. We would also like to emphasize that comprehensive examination of new born for structural abnormalities of the orofacial region is crucial to early diagnosis of syndromes and subsequent referral for further evaluation and management.

Keywords

Mutation, Hamartoma, Cleft Palate, Ciliopathies

References

1 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300.

2 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/

3 Dodge JA, Kernohan DC. Oral-facial-digital syndrome. Arch Dis Child. 1967;42(222):214-9. http://dx.doi.org/10.1136/adc.42.222.214. PMid:6024472.

4 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(3):569-76. http://dx.doi.org/10.1086/318802. PMid:11179005.

5 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/

6 Salinas CF, Pai GS, Vera CL, et al. Variability of expression of the orofaciodigital syndrome type I in black females: six cases. Am J Med Genet. 1991;38(4):574-82. http://dx.doi.org/10.1002/ajmg.1320380416. PMid:2063902.

7 Thauvin-Robinet C, Cossee M, Cormier-Daire V, et al. Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type I: a French and Belgian collaborative study. J Med Genet. 2006;43(1):54-61. http://dx.doi.org/10.1136/jmg.2004.027672. PMid:16397067.

8 Sharma S, Kalish JM, Goldberg EM, Reynoso FJ, Pradhan M. An atypical presentation of a male with oral-facial-digital syndrome type I related ciliopathy. Case Rep Nephrol. 2016;2016:3181676. http://dx.doi.org/10.1155/2016/3181676. PMid:27651963.

9 Satir P, Pedersen LB, Christensen ST. The primary cilium at a glance. J Cell Sci. 2010;123(Pt4):499-503. http://dx.doi.org/10.1242/jcs.050377. PMid:20144997.

10 Sorokin SP. Reconstructions of centriole formation and ciliogenesis in mammalian lungs. J Cell Sci. 1968;3(2):207-30. http://dx.doi.org/10.1242/jcs.3.2.207. PMid:5661997.

11 AlKattan WM, Al-Qattan MM, Bafaqeeh SA. The pathogenesis of the clinical features of oral-facial-digital syndrome type I. Saudi Med J. 2015;36(11):1277-84. http://dx.doi.org/10.15537/smj.2015.11.12446. PMid:26593159.

12 Mahajan AM, Ganvir SM, Hazarey VK, Mahajan MC. Chondrosarcoma of the maxilla: a case report and review of literature. J Oral Maxillofac Pathol. 2013;17(2):269-73. http://dx.doi.org/10.4103/0973-029X.119759. PMid:24250092.

13 National Organization for Rare Disorders (NORD). Joubert Syndrome. NORD; 2011 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/joubert-syndrome/

14 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/

15 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848.

16 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/

17 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247.

18 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/

19 Dhull KS, Acharya S, Mohanty M, Dhull RS, Panda S. Oro-facial-digital syndrome type I: a case report. J Indian Soc Pedod Prev Dent. 2014;32(2):152-5. http://dx.doi.org/10.4103/0970-4388.130980. PMid:24739916.

20 Online Mendelian Inheritance in Man® (OMIM®). Orofaciodigital syndrome VI; OFD6. Baltimore: Johns Hopkins University; 2017. [cited 2020 October 17]. Available from: https://www.omim.org/entry/277170
 


Submitted date:
10/14/2020

Accepted date:
03/01/2021

Publication date:
08/20/2021

611fb11da953955e143fc522 autopsy Articles
Links & Downloads

Autops Case Rep

Share this page
Page Sections