ACF Lam, KKS Lai, ATC Chau, LPK Cheng, STS Lam

Abstract

Smith-Magenis syndrome (SMS) is a clinically recognisable multiple congenital anomalies syndrome marked by distinctive craniofacial dysmorphism, behavioural and neurological abnormalities. Other additional abnormalities depend on the extent of contiguous genes involvement. We compared the clinical features of four SMS patients; and report new, consistent and previously unrecognised craniofacial features in the syndrome; and in addition, reporting the second case of SMS with Joubert phenotype in literature.

Smith-Magenis 綜合徵（SMS）是一種臨床上可識別的獨特性顱面畸形，行為及神經學上出現異常的多種先天異常綜合徵。其他額外的異常取決於相鄰基因受影響的程度。我們比較了 4 例 SMS 患者的臨床特徵；報導了新的，一致的及此前對該綜合徵未曾認識的顱面特徵；此外，報導了文獻中第二例具有 Joubert 表現型SMS病例。