Propping P, Zerres K
Institut für Humangenetik, Universität Bonn, Germany.
Am J Med Genet. 1993 Mar 1;45(5):642-8. doi: 10.1002/ajmg.1320450525.
We describe a family with at least seven living persons who are affected by an hitherto undescribed autosomal-dominant syndrome with variable expression, bearing close resemblance to the EEC syndrome and related disorders. The main manifestations are hypodontia and/or early loss of permanent teeth, ectrodactyly, obstruction of lacrimal ducts, onychodysplasia, and excessive freckling. We propose the acronym ADULT (acro-dermato-ungual-lacrimal-tooth)-syndrome for this condition.
我们描述了一个家族，其中至少有七名在世成员受一种迄今未被描述的常染色体显性综合征影响，该综合征表现多样，与EEC综合征及相关疾病极为相似。主要表现为缺牙症和/或恒牙早失、缺指（趾）畸形、泪管阻塞、甲发育异常以及雀斑过多。我们建议将这种病症简称为成人（肢端-皮肤-指甲-泪腺-牙齿）综合征。
