Heritable disorders of connective tissue / Victor A. McKusick.

  • McKusick, Victor A. (Victor Almon), 1921-2008.
Date:
1960
Catalogue details

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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    8 Preface The ophthalmologist sees grave changes in the eyes in pseudoxanthoma elas- ticum and in the Marfan syndrome and less serious, yet significant, alterations in osteogenesis imperfecta, the Ehlers-Danlos syndrome, and the Hurler syndrome. The otologist sees the patients with the Hurler syndrome, those with osteo¬ genesis imperfecta, and rarely those with the Marfan syndrome. The orthopedist is concerned with the cases of osteogenesis imperfecta, the Ehlers-Danlos syndrome, the Hurler syndrome, and sometimes the Marfan syn¬ drome. Cases of fibrodysplasia ossificans progressiva are frequently seen by him. The general surgeon repairs the hernias of the patient with the Marfan syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, or the Hurler syndrome. The hematologist is consulted for the bruisability in the Ehlers-Danlos syn¬ drome and for the tendency to multiple hemorrhages in patients with pseudo¬ xanthoma elasticum. The gastroenterologist is likely to encounter a case of pseudoxanthoma elas¬ ticum if he treats a sizable group of patients with gastrointestinal hemorrhage. Increasingly the cardiologist is finding the Marfan syndrome of greater im¬ portance among the causes of aortic regurgitation and of dissecting aneurysm of the aorta than he had previously realized. In the Hurler syndrome the cardiac in¬ volvement may bring the patient to medical attention and is frequently the cause of death at an early age. Among cases of peripheral vascular disease, pseudo¬ xanthoma elasticum occasionally figures as a predominant etiologic factor. Aside from the cardiovascular manifestations, the chest physician will be in¬ terested in the occurrence of cystic disease of the lung in the Marfan syndrome and of rupture of the lung with pneumothorax or mediastinal emphysema in the Marfan syndrome and in the Ehlers-Danlos syndrome. The dermatologist treats patients with pseudoxanthoma elasticum and the Ehlers-Danlos syndrome. Even the plastic surgeon is called in to provide cosmetic relief for the un¬ sightly changes in the skin of the neck in pseudoxanthoma elasticum. The dentist sees abnormalities, especially in osteogenesis imperfecta and the Hurler syndrome. The rheumatologist, interested in connective tissues in general, is likely to see in these heritable disorders of connective tissue derangements in purer culture and more easily analyzed form than in the acquired disorders of connective tissue such as the arthritides. Specifically, the rheumatologist may be consulted for the repeated hydrarthroses which may accompany the loose-jointedness of the Ehlers-Danlos syndrome and for the stiff joints of the Hurler syndrome. The endocrinologist is frequently consulted by the parents of the child with the Marfan syndrome or the Hurler syndrome and by the patient with osteogenesis imperfecta or fibrodysplasia ossificans progressiva, the incorrect supposition being that an endocrinopathy is present. By reason of their hereditary nature, all these conditions are of interest to the medical geneticist.