Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus
β 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
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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:
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,