Stoll C, Kieny J R, Dott B, Alembik Y, Finck S
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France.
Am J Med Genet. 1992 Feb 15;42(4):480-6. doi: 10.1002/ajmg.1320420413.
We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.
我们在3代中的6名亲属中观察到罗宾序列征与多指（趾）畸形（趾骨远端发育不全和/或发育不全）及心律失常（室性期前收缩呈二联律或多灶性心动过速并伴有晕厥发作）并存的情况。这种家族关联此前尚未见报道，可能代表一种此前未被认识的遗传性畸形综合征。
