[Oto-palato-digital type I syndrome in five generations. Relationship to the type II form].
Three cases of oto-palato-digital syndrome (OPD) are described. They are from the same family, in which the syndrome is an X linked recessive disorder, transmitted through five generations. These cases are classified rather in the OPD type I. The limit between OPD I and II is discussed. The hypothesis of two allelic genes is suggested.
Le Marec
B
B
CHU Rennes - Hôpital Ponchaillou.
Odent
S
S
Bracq
E
E
Bulard
M B
MB
Bourdinière
J
J
Babut
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009958:Orofaciodigital Syndromes / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome
Syndrome oto-palato-digital de type I atteignant cinq générations. Relations avec la forme de type II.