Heritable disorders of connective tissue / Victor A. McKusick.
- Victor A. McKusick
- Date:
- 1960
Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)
Credit: Heritable disorders of connective tissue / Victor A. McKusick. Source: Wellcome Collection.
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![Fig. AE. M. McG. (A92675), 7 years of age. Bilateral ectopia lentis. Severe pectus exca- vatum. Highly intelligent. Frequent respiratory infections. Loud systolic murmur of unclear origin. The mother has the full-blown syndrom,e and is sightless in one eye from spontaneous retinal detachment. This child died at the age of 10 years. The clinical picture was that of mitral regurgitation with progressive cardiac enlargement. Atrial fibrillation had its onset eight months before death. The mitral valve showed three cusps and abnormally short chordae tendineae. The left antrium was huge, with thickened endocardium. Both ventricles were grossly dilated. Fig. 4F. D. W. (B8430), 4 years 2 months of age, is thought to have minimal dilatation of the ascending aorta and mitral regurgitation. Also has kyphoscoliosis and ectopia lentis. Parents appear unaffected but paternal great grandfather was 6 feet 7 inches tall. Fig. AG. M. P. (362804), 53 years old, one of the oldest patients with the Marfan syndrome I have had the opportunity to examine. (I have recently seen a 59-year-old man with the Marfan syndrome manifested by ectopia lentis, dolichostenoinelia, and aortic aneurysm. One man with probable Marfan's syndrome was killed accidentally at the age of 82 years. He was still well preserved at that time. He was 75 inches tall and fathered at least two full-blown cases of Marfan's syndrome [see Fig. 23 on page 81 for the x-ray film of one] and four probably affected individuals out of sibship numbering twelve in all.) Extensive pedigree of Marfan's syndrome. Systolic cruncli (extracardiac sound) present for many years.](https://iiif.wellcomecollection.org/image/b18030154_0053.JP2/full/800%2C/0/default.jpg)
