title: [Holt-Oram syndrome in combination with reciprocal translocation, lung hypoplasia and cardiomyopathy].
abstract: A now two years old girl had developed respiratory insufficiency shortly after birth requiring prolonged artificial ventilation. A hypo- and dysplasia of the right lung was identified as the underlying cause. Further diagnostic evaluation revealed a malformation of bones, i.e. shortness of the humerus, aplasia of the radius, shortness of the ulna and a congenital anlage of four metacarpal bones in fixed malposition. In addition, an atrial septal defect of the sinus venous type with left-to-right shunting was present. This, in combination with the sceletal abnormalities pointed to the diagnosis of Holt-Oram syndrome. In her first year of life the patient also developed a hypertrophic non-obstructive cardiomyopathy. Cytogenetic analysis of her family revealed a reciporke translocation between chromosome 1 and 11 (t -1, -11 (1p13, 11q13)) in the patient herself, her father and the father and a sister of her father. However, this finding as well as the hypertrophic cardiomyopathy has to be regarded as being independent from Holt-Oram syndrome.
authors.affiliation: Klinik und Poliklinik für Innere Medizin I, Universität Regensburg.
authors.forename: F
authors.initials: F
authors.lastname: Kullmann
authors.forename: R
authors.initials: R
authors.lastname: Koch
authors.forename: W
authors.initials: W
authors.lastname: Feichtinger
authors.forename: H
authors.initials: H
authors.lastname: Giesen
authors.forename: M
authors.initials: M
authors.lastname: Schmid
authors.forename: T
authors.initials: T
authors.lastname: Grimm
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D007223:Infant; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D010375:Pedigree; D011884:Radius / Q000002:abnormalities; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics; D014178:Translocation, Genetic; D014457:Ulna / Q000002:abnormalities
vernacular_title: Holt-Oram Syndrom in Kombination mit reziproker Translokation, Lungenhypoplasie und Kardiomyopathie.