Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.
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 cortical blindness. He had a striking facial appearance similar to that of severely affected individuals in the family reported by Golabi and Rosen [1984], with mild hepatosplenomegaly, unusual skin, normal growth, decelerating OFC, and on autopsy a spongiform degeneration of brain stem and cerebrum. Results of all biochemical studies, including those pertaining to GM3 gangliosidosis, were normal.
Opitz
J M
JM
Shodair Children's Hospital, Helena, MT 59604.
Herrmann
J
J
Gilbert
E F
EF
Matalon
R
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D008040:Genetic Linkage; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014960:X Chromosome