Article
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
American journal of medical genetics. Part A - 1 Dec 2021
Castro Matheus Augusto Araújo, Dos Santos Juliana Heather Vedovato, Honjo Rachel Sayuri, Yamamoto Guilherme Lopes, Bertola Débora Romeo, Hurst Anna C, Chorich Lynn P, Layman Lawrence C, Kim Chong Ae, Kim Hyung-Goo
Abstract excerpt
Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age with developmental delay or intellectual disability. The majority of cases are caused by pathogenic variants in NSD1. The most consistent physical features in this disorder are facial dysmorphisms including prominent...
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