Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies.
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.
Roodhooft
A M
AM
Department of Pediatrics, University Hospital, Antwerp, Belgium.
Brussaard
C C
CC
Elst
E
E
van Acker
K J
KJ
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004431:Ear, External / Q000002:abnormalities*; D005799:Genes, Dominant; D006417:Hematuria / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D007670:Kidney Calices / Q000002:abnormalities; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*