hrp0094p2-299 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Case report: Tall stature, obesity and hip dysplasia in Weaver syndrome due to a loss-of-function variant in EHZ2

Paraskevopoulou Niki , Gevers Evelien ,

Case report: We describe a male with tall stature (final height 210.5cm), macrocephaly (63.5cm, +5.5SD), obesity (BMI 44.6 kg/m2) and mild learning difficulties. Birth weight was 4.6kg (+2.3SD). He had slightly delayed developmental milestones. He was referred at the age of 5 for tall stature (+6.2SD), with a head circumference on the 98th centile, growing at a rate of 10cm/yr. He had thick doughy skin, a mild squint, somewhat coarse features, large hands...