Retrospective analysis of 5 cases with oral-facial-digital syndrome type I

doi:10.19438/j.cjoms.2020.06.014

Abstract

Abstract: PURPOSE: To analyze the clinical features in 5 individuals with oral-facial-digital syndrome type I, and investigate the diagnosis and therapy of oral-facial-digital syndrome typeⅠ. METHODS: A retrospective study was conducted in 5 patients with oral-facial-digital syndrome typeⅠ from November 2015 to September 2019. The experience in diagnosis and treatment was summarized and analyzed. RESULTS: Five patients with oral-facial-digital syndrome type Ⅰwere all females and were examined clinically and radiographically, associated oral and facial malformations were observed in 5 patients, digital malformations were observed in 2 patients, polycystic kidney disease was observed in 2 mothers with abortion history. All the patients had satisfied functional and esthetic results. The pathology of tongue nodules was hamartoma. CONCLUSIONS: Oral-facial-digital syndrome typeⅠhad complex phenotype and always complicated with other systemic malformations. Multidisciplinary comprehensive sequence therapy was necessary, surgical treatment was used to correct the malformation and dysfunction. Other systemic malformations must be examined, which will guide health surveillance and medical management of these patients.

Key words: Oral-facial-digital syndrome type I, X-linked dominant inheritance, Polycystic kidney disease, Comprehensive sequence therapy

CLC Number:

R782.2

TANG Xiao-yu, GU Dong-kun, LI Dong, NIU Qian-yun, WU Dan-dan. Retrospective analysis of 5 cases with oral-facial-digital syndrome type I[J]. China Journal of Oral and Maxillofacial Surgery, 2020, 18(6): 539-543.

References

[1] 苏宇雄, 廖贵清, 侯劲松, 等. 口-面-指综合征Ⅰ型1例报告[J].中国口腔颌面外科杂志, 2004, 2(3): 230-232.
[2] 马思维, 文抑西. 口-面-指(趾)综合征I型两例报告[J]. 中国美容医学, 2007, 16(2): 220-222.
[3] 王涛, 封兴华, 张浚睿, 等. 口-面-指(趾)综合征Ⅰ型一例[J].中华整形外科杂志, 2011, 27(5): 389-390.
[4] 叶敏, 江银华, 闫俊, 等. 口-面-指综合征Ⅰ型伴先天性心脑发育不全1例报道[J].口腔医学, 2014, 34(3): 215-217.
[5] 王建才, 高莹, 刘晓雁, 等. 口-面-指综合征一家系的基因诊断[J]. 中国麻风皮肤病杂志, 2016, 32(9): 520-522.
[6] Thauvin-Robinet C, Lee JS, Lopez E, et al.The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation[J]. Nat Genet, 2014, 46(8): 905-911.
[7] Toriyama M, Lee C, Taylor SP, et al.The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery[J]. Nat Genet, 2016, 48(6): 648-656.
[8] Bruel AL, Franco B, Duffourd Y, et al.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes[J]. J Med Genet, 2017, 54(6): 371-380.
[9] Ferrante MI, Giorgio G, Feather SA, et al.Identification of the gene for oral-facial-digital type I syndrome[J]. Am J Hum Genet, 2001, 68(3): 569-576.
[10] Bisschoff IJ, Zeschnigk C, Horn D, et al.Novel mutations including deletions of the entire OFD Ⅰ gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability[J]. Hum Mutat, 2013, 34(1): 237-247.
[11] Faily S, Perveen R, Chandler K, et al.Oral-facial-digital syndrome type 1: further clinical and molecular delineation in 2 new families[J]. Cleft Palate Craniofac J, 2020, 57(5): 606-615.
[12] AlKattan WM, Al-Qattan MM, Bafaqeeh SA. The pathogenesis of the clinical features of oral-facial-digital syndrome type I[J]. Saudi Med J, 2015, 36(11): 1277-1284.
[13] Schock EN, Chang CF, Struve JN, et al.Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome[J]. Dis Model Mech, 2015, 8(8): 855-866.
[14] Macca M, Franco B.The molecular basis of oral-facial-digital syndrome, type 1[J]. Am J Med Genet C Semin Med Genet, 2009, 151C(4): 318-325.
[15] Thauvin-Robinet C, Cossée M, Cormier-Daire V, et al.Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study[J]. J Med Genet, 2006, 43(1): 54-61.
[16] Del Giudice E, Macca M, Imperati F, et al.CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study[J]. Orphanet J Rare Dis, 2014, 9(1): 74-88.
[17] Saal S, Faivre L, Aral B, et al.Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I[J]. Clin Genet, 2010, 77(3): 258-265.
[18] Franco B, Ballabio A.X-inactivation and human disease: X-linked dominant male-lethal disorders[J]. Curr Opin Genet Dev, 2006, 16(3): 254-259.
[19] Bouman A, Alders M, Oostra JR, et al.Oral-facial-digital syndrome type 1 in males: congenital heart defects are included in its phenotypic spectrum[J]. Am J Med Genet A, 2017, 173(5): 1383-1389.
[20] McLaughlin K, Neilly JB, Fox JG, et al. The hypertensive young lady with renal cysts-it is not always polycystic kidney disease[J]. Nephrol Dial Transplant, 2000, 15(8): 1245-1247.
[21] Thauvin-Robinet C, Franco B, Saugier VP, et al.Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing[J]. Hum Mutat, 2009, 30(2): E320-E329.
[22] Toriello HV, Franco B, Bruel AL, et al. Oral-facial-digital syndrome type I[OL]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1188/(accessed on December 23,2019).
[23] Zhang HW, Su BG, Yao Y.OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China[J]. World J Clin Cases, 2020, 8(2): 331-336.
[24] Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi, et al.A novel mutation in the OFD1 gene in a Family with oral-facial-digital syndrome type 1: a case report[J]. Iran J Public Health, 2016, 45(10): 1359-1366.