Holt-Oram Syndrom in Kombination mit reziproker Translokation, Lungenhypoplasie und Kardiomyopathie
1993; Thieme Medical Publishers (Germany); Volume: 205; Issue: 03 Linguagem: Inglês
10.1055/s-2007-1025225
ISSN1439-3824
AutoresFrank Kullmann, R. Koch, W. Feichtinger, H. T. Giesen, M Schmid, Thomas W. Grimm,
Tópico(s)Tracheal and airway disorders
ResumoA 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.
Referência(s)