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.
No takes yet. Share an insight, caveat, or question.
Roodhooft et al. (1990) studied this question.
Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context: