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Ahmed S N, Ahmed A A. Oral-Facial-Digital Syndrome. jcbr. 2021; 5 (1) :1-6
URL: http://jcbr.goums.ac.ir/article-1-287-en.html
1- Department of Neonatology, Women Wellness and Research, Hamad Medical Corporation, Doha, Qatar , sabrynasraly@yahoo.com
2- Pediatrics Department, Hamad Medical Corporation, Doha, Qatar
Abstract:   (498 Views)
Background: The oral-facial-digital (OFD) syndrome is a group of hereditary disorders, manifested by anomalies of the oral cavity, face and digits that may be associated with cerebral malformations and polycystic kidney disorder. The condition is associated with either X-linked or autosomal recessive inheritance.  Herein, we report a case of OFD syndrome with various manifestations.
Case description: The case was a female baby with the features of the OFD syndrome. The family history was negative. The baby was the product of a non-consanguineous marriage. Diagnosis of OFD syndrome was confirmed by chromosomal microarray. The case had features of OFD type 1 in addition to central nervous system abnormalities. The chromosomal study of the parents was normal. Consultation with the related subspecialties were requested for management of the case.
Conclusion: OFD syndrome is a very rare conditions, which can be easily diagnosed. Cooperation of the related subspecialities is very important for better management of these cases
Full-Text [PDF 424 kb]   (61 Downloads) |   |   Full-Text (HTML)  (25 Views)  
Article Type: Case report | Subject: Basic medical sciences
Received: 2021/01/19 | Accepted: 2017/05/20 | Published: 2017/05/20

1. Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A. 2007; 24:3314-23. [DOI:10.1002/ajmg.a.32032]
2. Toriello HV. Are the oral-facial-digital syndromes ciliopathies? Am J Med Genet A. 2009; 5:1089-95. [DOI:10.1002/ajmg.a.32799]
3. Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016; 5:12. [DOI:10.1186/s13630-016-0034-4]
4. Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. Clin Genet. 2013; 83:135-44. [DOI:10.1111/j.1399-0004.2012.01885.x]
5. Sakai N, Nakakita N, Yamazaki Y, Ui K, Uchinuma E. Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations. J Craniofac Surg. 2002; 13:321-26. [DOI:10.1097/00001665-200203000-00028]
6. Smith RA, Gardner-Medwin D. Orofaciodigital syndrome type III in two sibs. J With Genet in 1993; 30: 870-872. [DOI:10.1136/jmg.30.10.870]
7. Naiboglu B, Oysu C, Gokceer T. Orofaciodigital syndrome. Ear Nose Throat J 2012; 91: E8-9. [DOI:10.1177/014556131209100115]
8. Chung WY, Chung LP. A case of oral-facial-digital syndrome with overlapping manifestations of type V and type VI: a possible new OFD syndrome. Pediatr Radiol. 1999; 29:268-71. [DOI:10.1007/s002470050586]
9. Bonnard C, Shboul M, TonekAboni SH, et al. Novel mutations in the ciliopathy- associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. Eur J Med Genet 2018. [DOI:10.1016/j.ejmg.2018.03.012]
10. Nowaczyk MJ, Zeesman S, Whelan DT, Wright V, Feather SA. Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. Am J Med Genet A. 2003; 2:179-82. [DOI:10.1002/ajmg.a.20215]
11. Siebert JR. The oral-facial-digital syndromes. Handb Clin Neurol. 2008,87:341-51. [DOI:10.1016/S0072-9752(07)87018-7]
12. Nagai K, Nagao M, Nagao M, Yanai S, et al. Oral-facial-digital syndrome type IX in a patient with dandy-Walker malformation. J Med Genet. 1998; 35:342-44. [DOI:10.1136/jmg.35.4.342]
13. Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, and 40 others. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J. Med. Genet. 2017; 54: 371-380. [DOI:10.1136/jmedgenet-2016-104436]
14. Gorlin RJ, Cohen MMJr, Hennekam RCM, eds. Syndromes of the Head and Neck. 4th ed. Oxford University Press, New York, NY; 2001:832-43.
15. Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. Am J Med Genet C Semin Med Genet. 2009; 4:318-25. [DOI:10.1002/ajmg.c.30224]
16. Field M, Scheffer IE, Gill D, Wilson M, Christie L, Shaw M, Gardner A, Glubb G, Hobson L, Corbett M, Friend K, Willis-Owen S, Gecz J. Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. Eur J Hum Genet. 2012; 20:806-9. [DOI:10.1038/ejhg.2012.9]

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