Facial anthropometry in an adult male with Sotos syndrome

Abstract

Introduction: 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 narrowface. 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 analysisin defining abnormal craniofacial dimensions.Introduction: 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 narrowface. 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 analysisin defining abnormal craniofacial dimensions