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Progressive spastic paraparesis,vitiligo, premature graying,and distinct facial appearance: A new genetic syndrome in 3 sibs |
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| Authors: | Michael Lison Benjamin Kornbrut Avraham Feinstein Yehuda Hiss Haim Boichis Richard M. Goodman John M. Opitz |
| Abstract: | We describe progressive spastic paraparesis of the lower limbs in the presence of generalized vitiligo, premature graying of body hair, and distinct facial appearance in 3 sibs whose parents are first cousins. The condition is considered an autosomal recessive trait. The pathogenesis of this neurocutaneous disorder is unknown. |
| Keywords: | progressive spastic paraparesis vitiligo premature graying genetic syndrome neurocutaneous disorder autosomal recessive inheritance |