Article Data

  • Views 2227
  • Dowloads 316

Case Reports

Open Access

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

  • Aybike Bas1,*,
  • Fatma Sarac1
  • Sera Derelioglu1

1Department of Pediatric Dentistry, Atatürk University Faculty of Dentistry, 25050 Erzurum, Turkey

DOI: 10.22514/jocpd.2023.028 Vol.47,Issue 3,May 2023 pp.103-108

Submitted: 30 August 2022 Accepted: 22 November 2022

Published: 03 May 2023

*Corresponding Author(s): Aybike Bas E-mail: aybkbass@gmail.com

Abstract

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.


Keywords

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


Cite and Share

Aybike Bas,Fatma Sarac,Sera Derelioglu. Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review. Journal of Clinical Pediatric Dentistry. 2023. 47(3);103-108.

References

[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.



Abstracted / indexed in

Science Citation Index Expanded (SciSearch) Created as SCI in 1964, Science Citation Index Expanded now indexes over 9,500 of the world’s most impactful journals across 178 scientific disciplines. More than 53 million records and 1.18 billion cited references date back from 1900 to present.

Biological Abstracts Easily discover critical journal coverage of the life sciences with Biological Abstracts, produced by the Web of Science Group, with topics ranging from botany to microbiology to pharmacology. Including BIOSIS indexing and MeSH terms, specialized indexing in Biological Abstracts helps you to discover more accurate, context-sensitive results.

Google Scholar Google Scholar is a freely accessible web search engine that indexes the full text or metadata of scholarly literature across an array of publishing formats and disciplines.

JournalSeek Genamics JournalSeek is the largest completely categorized database of freely available journal information available on the internet. The database presently contains 39226 titles. Journal information includes the description (aims and scope), journal abbreviation, journal homepage link, subject category and ISSN.

Current Contents - Clinical Medicine Current Contents - Clinical Medicine provides easy access to complete tables of contents, abstracts, bibliographic information and all other significant items in recently published issues from over 1,000 leading journals in clinical medicine.

BIOSIS Previews BIOSIS Previews is an English-language, bibliographic database service, with abstracts and citation indexing. It is part of Clarivate Analytics Web of Science suite. BIOSIS Previews indexes data from 1926 to the present.

Journal Citation Reports/Science Edition Journal Citation Reports/Science Edition aims to evaluate a journal’s value from multiple perspectives including the journal impact factor, descriptive data about a journal’s open access content as well as contributing authors, and provide readers a transparent and publisher-neutral data & statistics information about the journal.

Scopus: CiteScore 2.0 (2022) Scopus is Elsevier's abstract and citation database launched in 2004. Scopus covers nearly 36,377 titles (22,794 active titles and 13,583 Inactive titles) from approximately 11,678 publishers, of which 34,346 are peer-reviewed journals in top-level subject fields: life sciences, social sciences, physical sciences and health sciences.

Submission Turnaround Time

Conferences

Top