Open AccessFacial anthropometry in an adult male with Sotos syndrome
Author(s) -
Eliza Cristiane de Carvalho,
Amanda Albino Bisson,
Lucas Alvarenga Hespanhol,
Nicoli Maria Pereira,
Andréa Paula Fregoneze,
João Armando Brancher,
Maria Fernanda Pioli Torres
Publication year - 2019
Publication title -
rsbo./rsbo
Language(s) - English
Resource type - Journals
eISSN - 1984-5685
pISSN - 1806-7727
DOI - 10.21726/rsbo.v16i1.530
Subject(s) - sotos syndrome , craniofacial , macrocephaly , anthropometry , craniofacial abnormality , medicine , orthodontics , pediatrics , psychiatry
Sotos Syndrome is a dominant autossomic disease caused by a mutation in NSD1 gene localized in chromosome 5. The craniofacial phenotype of Sotos Syndrome is quite distinctive, especially in the young child, and includes macrocephaly, widelyspaced eyes, prominent chin and mandible, high and curved forehead, palpebral slits oblique and downward, long and narrow face. This phenotype plays an important role in the identification of this syndrome. Objective: The aim of this study was to analyze the craniofacial anthropometric landmarks of a young adult male with medical diagnosis of Sotos Syndrome. Material and methods: Using noninvasive method of craniofacial anthropometry, twenty five anthropometric measurements were taken of the individual and compared with the facial pattern of non-syndromic individuals, matched in gender and age. The findings were standards and converted to Z-scores. Results: the data analysis showed that the majority of variables were in supernormal range (greater than +2 standard deviation (SD). None none of them was in the subnormal range (less than –2SD). Conclusion: Anthropometric analysis of Sotos Syndrome demonstrated the usefulness of craniofacial analysis in defining abnormal craniofacial dimensions.