KULLMANN, F and KOCH, R and FEICHTINGER, W and GIESEN, H and SCHMID, M and GRIMM, T (1993) HOLT-ORAM SYNDROME IN COMBINATION WITH RECIPROKE TRANSLOCATION, HYPOPLASIA OF THE LUNG AND CARDIOMYOPATHY. KLINISCHE PADIATRIE, 205 (3). pp. 185-189. ISSN 0300-8630,
Full text not available from this repository.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 venosus 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 (1p 1 3, 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ; |
| Depositing User: | Dr. Gernot Deinzer |
| Last Modified: | 19 Oct 2022 08:42 |
| URI: | https://pred.uni-regensburg.de/id/eprint/53980 |
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