HERITABLE CONNECTIVE TISSUE DISEASES

MARFAN'S SYNDROME (Arachnodactyly) (Figure 15-34)

The most striking feature of this rare syndrome is increased length of the long bones, particularly of the fingers and toes. Other characteristics include scanty subcutaneous fat, relaxed ligaments, and, less commonly, other associated developmental anomalies, including congenital heart disease and deformities of the spine and joints. Ocular complications are often seen-in particular, dislocation of the lenses, usually superiorly and nasally. Less common ocular anomalies include severe refractive errors, megalocornea, cataract, uveal colobomas, and secondary glaucoma. There is a high infant mortality rate. Removal of a dislocated lens may be necessary. The disease is genetically determined, nearly always autosomal dominant, often with incomplete expression, so that mild, incomplete forms of the syndrome are seen. Several reports have correlated cytogenetic changes with Marfan's syndrome.

OSTEOGENESIS IMPERFECTA (Brittle Bones & Blue Scleras)

This rare autosomal dominant syndrome is characterized by multiple fractures, blue scleras, and, less commonly, deafness. The disease is usually manifest soon after birth. The long bones are very fragile, fracturing easily and often healing with fibrous bony union. The bones become more fragile with age. The very thin sclera allows the blue color imparted by the underlying uveal tract to show through. There is usually no visual impairment. Occasionally, abnormalities such as keratoconus, megalocornea, and corneal or lenticular opacities are also present.

Ophthalmologic treatment is seldom necessary.

10.1036/1535-8860.ch15

Customer Privacy Policy Copyright ©2002-2003 The McGraw-Hill Companies. All rights reserved. Any use is subject to the Terms of Use and Notice. Additional credits and copyright information. For further information about this site contact tech_support@accessmedicine.com. Last modified: October 31, 2002 .