[Report of a family with Holt-Oram syndrome (author's transl)].
Report of a family where the typical symptomatology of Holt-Oram syndrome can be documented over three generations. Holt-Oram syndrome is an autosomal-dominantly inherited disease, characterized by cardiac malformation, mainly septal defects, av-conduction disturbances, malformations of the upper limbs, mainly the radial ray and sometimes by vascular hypoplasia. According to the literature, these symptoms can be seen in variable expressivity in the family reported. Differential diagnosis of the entity and genetic counsel of symptomatic patients and their normal relatives are discussed.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D013577:Syndrome
Bericht über eine Familie mit Holt-Oram-Syndrom.