LADD syndrome in five members of a three-generation family and prenatal diagnosis.
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.
Francannet
C
C
Department of Pediatrics, Hôtel Dieu, Clermont-Ferrand, France.
Vanlieferinghen
P
P
Dechelotte
P
P
Urbain
M F
MF
Campagne
D
D
Malpuech
G
G
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000025:Abortion, Eugenic; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004431:Ear, External / Q000002:abnormalities*; D004480:Ectromelia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007767:Lacrimal Duct Obstruction / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011884:Radius / Q000002:abnormalities*; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics*; D016216:Ultrasonography, Prenatal