[Orofaciodigital syndrome type I in a mother and daughter].
Two patients, a mother and her daughter, who manifested the clinical features of the oro-facial-digital syndrome (OFD I) are reported. The mother have polycystic disease of the kidneys. Clinical data and genetic aspects are commented in relation with these new cases.
Guerrero Vázquez
J
J
Servicio de Asistencia Sanitaria, Hospital Punta de Europa, Algeciras, Cádiz.
Cazenave Bernal
A
A
de Paz Aparicio
P
P
Luengo Casasola
J L
JL
Garcés Ramos
A
A
López Vázquez
J L
JL
Hoyos Madrid
J J
JJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D009958:Orofaciodigital Syndromes / Q000235:genetics*; D010641:Phenotype; D007690:Polycystic Kidney Diseases / Q000235:genetics; D014960:X Chromosome
Síndrome oro-facio-digital tipo I en una madre y su hija.