Elejalde syndrome

Elejalde syndrome

(el-e-hal′dā)
[Benigno Rafael Elejalde, U.S. geneticist]
A rare autosomal recessive syndrome in which affected children are born with silver-colored hair, diminished skin pigmentation, and severe neurological disease. The latter often proves fatal.

Elejalde,

Rafael, U.S. geneticist.
Elejalde syndrome - a rare autosomal recessive disease characterized by silvery hair, severe central nervous system dysfunction, bronze skin observed after sun exposure, ophthalmologic abnormalities, and neurologic involvement, including seizures and mental retardation.
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References in periodicals archive ?
Sanal O, Yel L, Kucukali T, et al: An allelic variant of Griscelli disease: presentation with severe hypotonia mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).
Bahadoran P, Ortonne JP, Ballotti R, de Saint Basile G: Comment on Elejalde syndrome and relationship with Griscelli syndrome.