[Expressivity of familial forms of Fraser syndrome].
Two new cases of the Fraser syndrome are presented. The literature review indicates that the clinical expression inside families is very constant with regard to cryptophthalmos, syndactyly or internal malformations. Particularly the fatal issue of severe forms is regularly constant in each of the families recently reported with a detailed autopsy. These conclusion would change the genetic counseling. A lethal form of the disease would recur in the same manner and could be detected by exhibiting the genito-urinary malformations at ultrasonography or even the syndactyly at foetoscopy.
Lambert
J C
JC
Unité de Génétique Médicale, Service de Pathologie Cellulaire, Hôpital de Cimiez, Nice.
Touitou
I
I
Paquis
V
V
Saunières
A M
AM
D000015:Abnormalities, Multiple / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011379:Prognosis; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome
Expressivité des formes familiales du syndrome de Fraser.