LADD syndrome in five members of a three-generation family and prenatal diagnosis

C Francannet; P Vanlieferinghen; P Dechelotte; M F Urbain; D Campagne; G Malpuech

LADD syndrome in five members of a three-generation family and prenatal diagnosis

Genet Couns. 1994;5(1):85-91.

Authors

C Francannet¹, P Vanlieferinghen, P Dechelotte, M F Urbain, D Campagne, G Malpuech

Affiliation

¹ Department of Pediatrics, Hôtel Dieu, Clermont-Ferrand, France.

PMID: 8031542

Abstract

We describe five members of a three generation family with lacrimo-auriculo-dento-digital (LADD) syndrome. The circumstances in which the diagnosis was reached and the details of the case reports underline the great variability of expression of this syndrome and show that caution should be taken in genetic counselling. Prenatal ultrasound should be offered to families at risk so that severe forms of the syndrome, in which termination of pregnancy can be considered, are early detected.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Abortion, Eugenic
Adult
Child
Chromosome Aberrations / genetics*
Chromosome Disorders
Ear, External / abnormalities*
Ectromelia / diagnosis
Ectromelia / genetics*
Female
Genetic Counseling*
Humans
Lacrimal Duct Obstruction / diagnosis
Lacrimal Duct Obstruction / genetics*
Male
Middle Aged
Pedigree
Phenotype
Pregnancy
Pregnancy Trimester, Second
Radius / abnormalities*
Tooth Abnormalities / diagnosis
Tooth Abnormalities / genetics*
Ultrasonography, Prenatal*