Stéphan E, Ashoush R, Mégarbané A, Kassab R, Salem N, Loiselet J, Bouvagnet P
Laboratoire de biologie moléculaire et de cytogénétique, faculté de médecine de l'université Saint-Joseph, Beyrouth.
Arch Mal Coeur Vaiss. 2000 May;93(5):641-7.
The kindred of 38 individuals reported here have various anomalies: 1. facio-thoracic malformations: hypertelorism, nasal deviation, cleft lip and palate, upper-incisors diastema and pectus excavatum; 2. cardiac anomalies: sinus node bradycardia, atrial fibrillation, nodal rhythm, atrial septal defect. Wolff-Parkinson-White syndrome, low insertion of the septal tricuspid valve corresponding to an Ebstein syndrome, pulmonic "en dôme" valve stenosis, aortic valve stenosis, long QT, and intraventricular conduction blocks. Almost all these defects are septal or para-septal. Mitral stenosis is probably rheumatoid. Such median varied pathology has not been yet reported. All the extra-cardiac anomalies are situated along the vertical upper half-body midline. All cardiac anomalies are in the septal or para-septal region. It is an autosomal dominant trait that implies the early embryonic development of the midline of cardiac and extra-cardiac structures.
本文报道的一个包含38人的家族存在多种异常情况：1. 面胸部畸形：眼距过宽、鼻偏、唇腭裂、上切牙间隙和漏斗胸；2. 心脏异常：窦房结心动过缓、心房颤动、结性心律、房间隔缺损、预激综合征、三尖瓣隔瓣低位（对应埃布斯坦综合征）、肺动脉“圆顶状”瓣膜狭窄、主动脉瓣狭窄、长QT间期以及室内传导阻滞。几乎所有这些缺陷都是间隔或旁间隔性的。二尖瓣狭窄可能是类风湿性的。这种多样的中间病理情况尚未见报道。所有心脏外异常均位于身体上半部分的垂直中线处。所有心脏异常均位于间隔或旁间隔区域。这是一种常染色体显性性状，意味着心脏和心脏外结构中线的早期胚胎发育异常。
