Περίληψη:
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. (C) 2009 by
Elsevier Inc. All rights reserved.
Συγγραφείς:
Leventopoulos, George
Kitsiou-Tzeli, Sophia
Kritikos,
Konstantinos
Psoni, Stavroula
Mavrou, Ariadni
Kanavakis,
Emmanuel
Fryssira, Helen
