Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: A new genetic syndrome in 3 sibs

Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: A new genetic syndrome in 3 sibs

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 neurocu...

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Veröffentlicht in:American journal of medical genetics 1981, Vol.9 (4), p.351-357
Hauptverfasser: Lison, Michael, Kornbrut, Benjamin, Feinstein, Avraham, Hiss, Yehuda, Boichis, Haim, Goodman, Richard M., Opitz, John M.
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Adult
autosomal recessive inheritance
Child
Consanguinity
Female
genetic syndrome
Hair Color
Humans
Male
Muscle Spasticity - genetics
neurocutaneous disorder
Paraplegia - complications
Paraplegia - genetics
Pedigree
premature graying
progressive spastic paraparesis
Scoliosis - complications
Syndrome
vitiligo
Vitiligo - complications
Vitiligo - genetics
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Zusammenfassung: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320090411