hrp0097p1-524 | Growth and Syndromes | ESPE2023

Two male siblings with extremely tall stature, moderate mental retardation and a deletion of ASH1L at chromosome 1q22.

Birkebæk Niels , Lildballe Dorte

Background: Several symmetric monogenic overgrowth syndromes with tall stature have been described, which is why children with syndromic tall stature should undergo comprehensive diagnostics. Tall stature has not been associated with chromosome 1.Objective: To present height growth and diagnostics in two male siblings with extreme tall stature and moderate mental retardation. Both had a deletion of ASH1L at chro...