Simpson-Golabi-Behmel syndrome: Follow-up of the Michigan family

J. M. Opitz, J. Herrmann, E. F. Gilbert, R. Matalon

Research output: Contribution to journalArticle

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)301-308
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume30
Issue number1-2
DOIs
StatePublished - Jan 1 1988
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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