Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder, primarily caused by variants in the PTPN11 gene. Characterized by multiple lentigines, hypertelorism, short ...

Cleft lip and cleft palate (CL/CP) are the most commonly occurring craniofacial birth defects. Although some CL/CPs are detected on prenatal ultrasound, the majority are immediately recognized in ...

Methods and results: We present the case of an 18-year-old Chinese male exhibiting characteristic features including a triangular face, micrognathia, hypertelorism, macrodontia, bushy eyebrows, ...