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Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus

✍ Scribed by R. B. Lowry; B. J. Wood


Book ID
119838268
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
386 KB
Volume
8
Category
Article
ISSN
0009-9163

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πŸ“œ SIMILAR VOLUMES


Epiphyseal dysplasia, microcephaly, nyst
✍ Lowry, R. Brian ;Wood, Betty J. ;Cox, Terry A. ;Hayden, Michael R. πŸ“‚ Article πŸ“… 1989 πŸ› John Wiley and Sons 🌐 English βš– 521 KB

In 1975, we reported two brothers with epiphyseal dysplasia, microcephaly, and nystagmus; one of them also had mild mental retardation. Here we present information on the natural history, particularly with respect to the development of a new visual problem, namely, retinitis pigmentosa. KEY WORDS:

A syndrome of microcephaly, eye anomalie
✍ Bavinck, Jan N. Bouwes ;Weaver, David D. ;Ellis, Forrest D. ;Ward, Richard E. ;O πŸ“‚ Article πŸ“… 1987 πŸ› John Wiley and Sons 🌐 English βš– 406 KB πŸ‘ 2 views

We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome,