[Oral-facial-digital syndrome in male (author's transl)].
One case of oral-facial-digital syndrome (Papillon-Léage and Psaume) is presented. This is the second one reported on a patient with normal male karyotipe. Clinical data and genetic aspects are commented in relation with this new case in a 46 XY male.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003937:Diagnosis, Differential; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis / Q000235:genetics*
Síndrome oro-facio-digital I (O.F.D.I) en varón