Le Marec B, Odent S, Bracq E, Bulard M B, Bourdinière J, Babut J M
CHU Rennes - Hôpital Ponchaillou.
Ann Genet. 1988;31(3):155-61.
Three cases of oto-palato-digital syndrome (OPD) are described. They are from the same family, in which the syndrome is an X linked recessive disorder, transmitted through five generations. These cases are classified rather in the OPD type I. The limit between OPD I and II is discussed. The hypothesis of two allelic genes is suggested.
本文描述了三例耳-腭-指综合征(OPD)。他们来自同一个家族,该综合征在这个家族中是一种X连锁隐性疾病,已遗传了五代。这些病例被归为I型OPD。文中讨论了I型和II型OPD之间的界限。并提出了两个等位基因的假说。