Winchester's syndrome.

نویسنده

  • R M Winter
چکیده

In 1969 Winchester et all described two PuertoRican sisters aged four and 12 years, the offspring of first cousins, as having "a new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis". Brown and Kuwabara2 described the same sibs from the ophthalmological point of view at the ages of five and 13 years. Hollister et a13 4 reported two sisters and a male cousin from an inbred Mexican kindred with a similar condition. A further similar male case was reported from Bombay by Irani et al.S Again, the parents were first cousins. Dunger et a16 reported two cases with features similar to Winchester's syndrome with increased urinary oligosaccharide excretion. In a note added in proof it was mentioned that the first case had features similar to infantile systemic hyalinosis, a condition that is discussed under differential diagnosis below. The purpose of this paper is to review the clinical, radiological, and pathological features of the reported cases of Winchester's syndrome, to discuss the variability and possible heterogeneity of the condition, and to clarify the differential diagnosis.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 26 12  شماره 

صفحات  -

تاریخ انتشار 1989