Russo A, Lanna P, Perna G P, Salvatori M P, Villella A, Fanelli R
G Ital Cardiol. 1985 Mar;15(3):349-53.
This paper reports on two brothers affected by FG syndrome (a rare X-linked syndrome with multiple congenital anomalies and mental retardation) and subvalvular aortic stenosis of the discrete type. This is a previously unrecognized association. The FG syndrome was firstly described by Opitz and Kaveggia in 1974. Nearly 20 cases have been reported: congenital heart diseases previously reported are atrial septal defect, ventricular septal defect and hypoplastic left heart. The clinical appearance of the two cases we have observed was that of mental retardation and typical features including abnormal facies (dolicocephaly, frontal prominence, poorly modeled auricles, micrognathia, prominent lower lip and lack of expression), anteriorly displaced anal opening, clinodactyly, great broad toes. A chromosome study showed a normal 46 XY constitution. Discrete subvalvular aortic stenosis was diagnosed by typical physical and echocardiographic findings.
本文报道了两名患有FG综合征（一种罕见的X连锁综合征，伴有多种先天性异常和智力发育迟缓）及离散型主动脉瓣下狭窄的兄弟。这是一种此前未被认识到的关联。FG综合征于1974年由奥皮茨和卡韦贾首次描述。已报道了近20例病例：此前报道的先天性心脏病有房间隔缺损、室间隔缺损和左心发育不全。我们观察的这两例病例的临床表现为智力发育迟缓以及典型特征，包括面容异常（长头畸形、额部突出、耳廓形态不佳、小颌畸形、下唇突出且表情缺乏）、肛门开口前移、手指弯曲、大脚趾宽阔。染色体研究显示染色体组成为正常的46，XY。通过典型的体格检查和超声心动图检查结果诊断为离散型主动脉瓣下狭窄。
