All SS patients showed macrocephaly, tall stature, and DD/ID. The other patient was found to have interstitial microdeletion of 7q22.1-7q22.3 by array comparative genomic hybridization. Five patients had Beckwith-Wiedemann syndrome (BWS) confirmed by methylation PCR. Results: Seven patients were diagnosed as Sotos syndrome (SS) whish was confirmed by sequencing or MLPA analysis of NSD1 gene. All of them presented with (I) excessive height >95th percentile with/without (II) DD/ID, and at least two minor features of the following: (i) dysmorphic craniofacial features and (ii) congenital anomalies. Methods: A total of 13 unrelated patients with overgrowth syndrome were recruited.
Here, we report 13 children with overgrowth syndrome.
Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay (DD)/intellectual disability (ID), congenital anomalies, neurological problems and an increased risk of neoplasia.