Nguyen Syndrome
摘要
Nguyen syndrome is a rare familial hypobetalipoproteinemia syndrome characterized by low cholesterol levels, resulting in the manifestation of multiple congenital anomalies (epicanthal folds, a short nose with low nasal bridge and anteverted nares, and bilateral partial cutaneous syndactyly), accompanied by mental retardation (Nguyen et al. 2003; Nakane et al. 2005).