Article
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.
American journal of medical genetics - 1 Jan 2000
Opitz J M, Herrmann J, Gilbert E F, Matalon R
Abstract excerpt
Here we report a follow-up on a boy born in 1983 into a family with presumed Simpson-Golabi-Behmel syndrome and first reported as patient 3 by Opitz [1984] under the designation "Golabi-Rosen" syndrome. The patient died at 25 months without having attained any measure of psychomotor development or maturation and with a neurologic picture of irritability, increased muscle tone, seizures, deafness and possible...
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