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Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family
J M Opitz1, J Herrmann, E F Gilbert
1Shodair Children's Hospital, Helena, MT 59604.
Abstract:
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.
Insights
This study follows a boy with presumed Simpson-Golabi-Behmel syndrome, who died at 25 months with severe neurological issues and brain stem spongiform degeneration. Biochemical studies were normal, suggesting a complex genetic or developmental disorder.
Area of Science:
- Genetics and Developmental Biology
- Neurology
- Rare Diseases
Background:
- Follow-up study on a patient with presumed Simpson-Golabi-Behmel syndrome, initially reported as "Golabi-Rosen" syndrome.
- Investigates a rare genetic disorder with significant developmental and neurological impact.
Observation:
- Patient exhibited severe psychomotor delay, irritability, increased muscle tone, seizures, deafness, and possible cortical blindness.
- Clinical presentation included distinctive facial features, mild hepatosplenomegaly, unusual skin, normal growth, and decelerating occipitofrontal circumference (OFC).
Findings:
- Autopsy revealed spongiform degeneration of the brain stem and cerebrum.
- All biochemical studies, including those for GM3 gangliosidosis, yielded normal results.
- The patient died at 25 months of age.
Implications:
- Highlights the complex and severe neurological manifestations of this presumed syndrome.
- Suggests the need for further research into the underlying genetic or etiological factors.
- Underscores the importance of detailed case follow-ups for understanding rare developmental disorders.
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