hrp0097p1-317 | Growth and Syndromes | ESPE2023
Kim Yoonsoo
, Rye Kim Jeong
, Yu Jeesuk
Background: Melnick-Needles syndrome (MNS), a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is caused by mutation of the gene FLNA, which results in disrupted production of filamin A and affects skeletal development. Short stature can be one of the clinical features of MNS.Case presentation: An 8-year-old girl who underwent multiple surgeries for gait disturbance was referred to the d...