A clinical study of Sotos syndrome patients with review of the literature.
Sotos syndrome is characterized by tall stature, advanced bone age, typical facial abnormalities, and developmental delay. The associated gene is NSD1. The study involved 22 patients who fulfilled the clinical criteria. Phenotypic characteristics, central nervous system findings, and cardiovascular and urinary tract abnormalities were evaluated. Meta-analysis on the incidence of cardinal clinical manifestations from the literature was also performed. Macrocephaly was present in all patients. Advanced bone age was noted in 14 of 22 patients (63%), and its incidence presented significant statistical difference in the meta-analysis of previous studies. Some patients had serious clinical manifestations, such as congenital heart defects, dysplastic kidneys, psychosis, and leukemia. Clinical and laboratory examinations should be performed to prevent and manage any unusual medical aspect of the syndrome. Facial gestalt and macrocephaly, rather than advanced bone age, are the strongest indications for clinical diagnosis.
Leventopoulos
George
G
Department of Medical Genetics, University of Athens Medical School, Aghia Sophia Children's Hospital, Athens, Greece. levent2669@hotmail.com
Kitsiou-Tzeli
Sophia
S
Kritikos
Konstantinos
K
Psoni
Stavroula
S
Mavrou
Ariadni
A
Kanavakis
Emmanuel
E
Fryssira
Helen
H
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000365:Age Determination by Skeleton; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002658:Developmental Disabilities / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human