| Literature DB >> 2225531 |
A M Roodhooft1, C C Brussaard, E Elst, K J van Acker.
Abstract
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.Entities:
Mesh:
Year: 1990 PMID: 2225531 DOI: 10.1111/j.1399-0004.1990.tb03574.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438