[A family with the EEC syndrome (ectrodactily, ectodermal dysplasia clefting syndrome): clinical variability and genetic counseling].
In a family with segregation of EEC-Syndrome we observed five children--two girls and three males--(two of them dizygotic twins) affected by very various phenotypes of the syndrome. The ocular symptomatology was represented by agenesis or stenosis of lacrimal ducts: two children were operated, the other suffered from frequent inflammations. The study of the family suggest an autosomic dominant heredity with defect of penetrance on the father.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004200:Diseases in Twins; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
Une famille atteinte de EEC-syndrome (ectrodactily ectodermal-dysplasia clefting syndrome): variabilité clinique et conseil génétique.