Craniofacial and dental phenotype of Smith-Magenis syndrome

• Published in: American journal of medical genetics. Part A 2006-12, Vol.140A (23), p.2556-2561
• Main Authors: Tomona, Natalia, Smith, Ann C.M., Guadagnini, Jean Pierre, Hart, Thomas C.
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adolescent; Adult; Biological and medical sciences; Cephalometry; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 17; Complex syndromes; Craniofacial Abnormalities - diagnosis; Craniofacial Abnormalities - diagnostic imaging; Craniofacial Abnormalities - genetics; del(17p11.2); Female; Humans; hypodontia; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Male; Medical genetics; Medical sciences; Phenotype; Radiography; Syndrome; taurodontism; Tooth Abnormalities - diagnosis; Tooth Abnormalities - diagnostic imaging; Tooth Abnormalities - genetics
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.31371

The aim of this study was to assess and characterize dental and craniofacial findings in individuals with a confirmed diagnosis of Smith–Magenis syndrome (SMS). Extraoral and intraoral examination including dental and craniofacial radiographs and three‐dimensional facial photoimaging were performed for 15 cases between ages 4 and 19 years old. Tooth agenesis (13/15 cases) affecting primarily the mandibular second premolars and taurodontism (13/15 cases) were common findings. Dilaceration of the tooth roots was present in one‐third of the cases. At least one dental anomaly was present in each case. These findings occur with greater frequency than in the general population (P 90%) further expands the phenotype and indicates that dental evaluation may aid in the diagnosis of SMS. Published 2006 Wiley‐Liss, Inc.