| 释义 |
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. |