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Lacrimo‐auriculo‐dento‐digital (LADD) syndrome with renal and foot anomalies
Author(s) -
Roodhooft A. M.,
Brussaard C. C.,
Elst E.,
Acker K. J.
Publication year - 1990
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1990.tb03574.x
Subject(s) - medicine , anatomy , foot (prosody) , feature (linguistics) , philosophy , linguistics
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.