Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency. Issue 12 (18th September 2020)

• Record Type: Journal Article
• Authors: Bender, Cláubia V.; da Silveira, Heraldo L. D.; dos Santos, Natália S.; Cavagni, Juliano; Rados, Pantelis V.; John, Angela B.; De Souza, Carolina F. M.; Giugliani, Roberto; Visioli, Fernanda
• Is Part Of: American journal of medical genetics. Volume 182:Issue 12(2020)
• Page Start: 2891
• Page End: 2901
• Publication Date: 2020-09-18
• Subjects: acid sphingomyelinase deficiency -- caries -- craniofacial anomalies -- dental anomalies -- periodontal disease; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61871
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients ( n = 8) with chronic ASMD. The individuals underwent oral examinations to evaluate the occurrence of caries, as well as full‐mouth periodontal examinations, to assess the occurrence and severity of periodontal diseases. Panoramic and profile radiographs were obtained to analyze dental conditions and craniofacial parameters. Participants also answered questionnaires to identify systemic impairment, parafunctional habits, and bruxism. Dental anomalies of size, shape, and number were found, with agenesis and microdontia being the predominant findings. The average of caries experience was 11.75 (±8.1). Only one patient had periodontal health and all adult individuals had periodontitis at different stages and degrees. Bruxism was found in 87.5% of the sample. The convex profile and maxillary and mandibular retrusion were the most relevant findings in the cephalometric analysis. It is concluded that individuals with chronic ASMD, in addition to several systemic manifestations, present significant modifications in their oral health, from a greater occurrence of dental anomalies, caries, periodontal disease, in addition to skeletal changes.