Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome.
A girl who presents most features of LADD syndrome together with growth retardation is described. Significant digital abnormalities are lacking. Comprehensive examination of the family revealed slight features of LADD syndrome in the father of the proband. A risk of 50% was estimated for sibs.
Horn
D
D
Institute of Medical Genetics, School of Medicine (Charité), Humboldt University, Berlin, Germany.
Witkowski
R
R
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003638:Deafness / Q000235:genetics*; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D010641:Phenotype; D013577:Syndrome