Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review

Nablus mask-like facial syndrome (NMLFS) (OMIM: 608156) is an extremely rare genetic syndrome first reported by Ahmad Teebi in 2000. Although it is a rare condition, it is characterized by distinctive facial features such as, expressionless facial appearance, tight, glistening facial skin, low anterior hairline, sparse eyebrows, small palpebral fissures (blepharophimosis), hypertolerism, bulbous nose with prominent columella, abnormally short nose and flat nasal bridge, abnormal ear configuration, bilateral longitudinal cheek dimples, everted lower lip, long philtrum, and maxillary hypoplasia. In addition, a happy and friendly disposition is considered to be the common symptom of this syndrome. Previous studies revealing the intraoral findings of this rare symptom are inadequate and the present report is the first one that presents a dental case involving Nablus syndrome in detail. The aim of this report is to contribute to the current literature through our oral findings in an NMFLS patient, presented at our clinic with toothache and through our treatment approach.

Nablus mask-like facial syndrome (NMLFS); Microdeletion; Enamel hypoplasia; Caries lesion; Cleft palate

[1] Teebi AS. Nablus mask-like facial syndrome. American Journal of Medical Genetics. 2000; 95: 407–408.

[2] Shieh JTC, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, et al. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. American Journal of Medical Genetics Part A. 2006; 140A: 1267–1273.

[3] Salpietro CD, Briuglia S, Rigoli L, Merlino MV, Dallapiccola B. Confirmation of Nablus mask-like facial syndrome. American Journal of Medical Genetics. 2003; 121A: 283–285.

[4] Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, et al. The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature. European Journal of Medical Genetics. 2009; 52: 140–144.

[5] Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, et al. Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. American Journal of Medical Genetics Part A. 2012; 158A: 2091–2099.

[6] Barber JCK, Maloney VK, Huang S, Bunyan DJ, Cresswell L, Kinning E, et al. 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. European Journal of Human Genetics. 2008; 16: 18–27.

[7] Allanson JE. A second family with blepharo-naso-facial syndrome. Clinical Dysmorphology. 2002; 11: 191–194.

[8] Overhoff J, Rabideau MM, Bird LM, Schweitzer DN, Haynes K, Schultz RA, et al. Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome. American Journal of Medical Genetics Part A. 2014; 164: 259–263.

[9] Jamuar SS, Duzkale H, Duzkale N, Zhang C, High FA, Kaban L, et al. Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype. American Journal of Medical Genetics Part A. 2015; 167: 1400–1405.

[10] Mazziotti S, D’Angelo T, Ascenti G, Blandino A. Facial abnormalities in Nablus mask-like facial syndrome: multidetector computed tomography findings. Journal of Oral and Maxillofacial Surgery. 2014; 72: 1579–1584.

[11] Jain S, Yang P, Farrell SA. A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype. European Journal of Medical Genetics. 2010; 53: 108–110.

[12] Sommer A, Bartholomew DW. Craniofacial-deafness-hand syndrome revisited. American Journal of Medical Genetics. 2003; 123A: 91–94.

[13] Sachdev M, Rastogi A, Singh A, Kumar K, Kapoor S, Bansal Y, et al. Phenotypic overlap between blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family. Ophthalmic Genetics. 2013; 34: 65–68.

[14] Turan B, Akinci MA, Esin IS, Dursun OB. Nablus mask-like facial syndrome with moderate developmental delay. The Eurasian Journal of Medicine. 2020; 52: 229–230.

[15] Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, et al. Nablus syndrome: easy to diagnose yet difficult to solve. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2018; 178: 447–457.

[16] Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, et al. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome. American Journal of Medical Genetics Part A. 2013; 161: 162–165.