Roodhooft A M, Brussaard C C, Elst E, van Acker K J
Department of Pediatrics, University Hospital, Antwerp, Belgium.
Clin Genet. 1990 Sep;38(3):228-32. doi: 10.1111/j.1399-0004.1990.tb03574.x.
A patient who presented with most features of lacrimo-auriculo-dento-digital (LADD) syndrome, an autosomal dominant trait, is described. There was no deafness, and anomalies of the external ear and the upper limbs were discrete. Renal anomalies, consisting of progressive caliectasis with stone formation, were revealed by macroscopic hematuria. There were also skeletal anomalies of both feet, a feature not previously described. Renal and distal limb anomalies are probably features of LADD syndrome.
本文描述了一名患有泪腺-耳-牙-指（LADD）综合征多数特征的患者，该综合征为常染色体显性遗传性状。患者无耳聋症状，外耳和上肢的异常表现不明显。因肉眼血尿检查发现存在肾脏异常，表现为伴有结石形成的进行性肾盂扩张。患者双脚还存在骨骼异常，这是此前未曾描述过的特征。肾脏和远端肢体异常可能是LADD综合征的特征表现。
