Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome

D Horn; R Witkowski

Phenotype and counseling in lacrimo-auriculo-dento-digital (LADD) syndrome

Genet Couns. 1993;4(4):305-9.

Authors

D Horn¹, R Witkowski

Affiliation

¹ Institute of Medical Genetics, School of Medicine (Charité), Humboldt University, Berlin, Germany.

PMID: 8110420

Abstract

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.

MeSH terms

Adult
Child
Chromosome Aberrations / genetics*
Chromosome Disorders
Deafness / genetics*
Dental Enamel Hypoplasia / genetics*
Ear, External / abnormalities*
Female
Fingers / abnormalities*
Genes, Dominant / genetics*
Genetic Counseling*
Humans
Lacrimal Apparatus / abnormalities*
Male
Phenotype*
Syndrome