[Holt-Oram syndrome in combination with reciprocal translocation, lung hypoplasia and cardiomyopathy].
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.
Kullmann
F
F
Klinik und Poliklinik für Innere Medizin I, Universität Regensburg.
Koch
R
R
Feichtinger
W
W
Giesen
H
H
Schmid
M
M
Grimm
T
T
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
Holt-Oram Syndrom in Kombination mit reziproker Translokation, Lungenhypoplasie und Kardiomyopathie.