Article
Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies.
Clinical genetics - 1 Sept 1990
Roodhooft A M, Brussaard C C, Elst E, van Acker K J
Abstract excerpt
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...
Topics
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Ear, External
- Genes, Dominant
- Hematuria
- Humans
- Kidney
- Kidney Calices
- Lacrimal Apparatus
- Male
- Phenotype