Abstract
Melnick-Needles syndrome （MNS） is a rare congenital X-linked syndrome associated with severe bone dysplasia, characterized by anomalous ossification, patterning of the axial and appendicular skeleton, and characteristic faces （exophthalmos, full cheeks, micrognathia, and malalignment of teeth）. MNS is considered an otopalatodigital （OPD） spectrum disorder owing to overlapping clinical phenotypes. Recently, the filamin A （FLNA） gene has been reported to be a responsible gene for OPD spectrum disorders, and the region of mutations correlates with clinical phenotypes. We report a case of MNS that was diagnosed on the basis of clinical symptoms and genetic studies. An 8-year-old girl was referred to our clinic for detailed evaluation of maxillofacial skeletal abnormality. She had systematic bone dysplasia, short stature, and a characteristic facial appearance caused by micrognathia. On the basis of these clinical findings, She was suspected to have MNS. Furthermore, we definitively diagnosed MNS by demonstrating the presence of a heterozygous recurrent mutation （c.3596C>T, amino acid substitution: S1199L）.
