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Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations
Author(s) -
Boer Lonneke,
Cessie Saskia,
Wit Jan M
Publication year - 2005
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2005.tb02059.x
Subject(s) - sotos syndrome , medicine , pediatrics
Aim: Nuclear receptor‐binding SET domain‐containing protein 1 (NSD1) gene mutations and deletions (NSD1 +/− ) are the major cause of Sotos syndrome. The aim was to investigate which auxology parameters relate to NSD1 +/− in patients clinically suspected of Sotos syndrome. Methods: In 32 patients clinically suspected of Sotos syndrome, we compared auxology parameters between NSD1 +/− patients and patients without NSD1 gene alterations (NSD1 +/+ ). The statistical performance of these parameters to predict NSD1 +/− was assessed. Results: Arm span‐for‐height standard deviation score (SDS) and hand length SDS were significantly higher in NSD1 +/− patients. Conclusion: Arm span for height and hand length are discriminating parameters between NSD1 +/− and NSD1 +/+ .