Simpson-Golabi-Behmel syndrome

Follow-up of the Michigan family

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

Research output: Contribution to journalArticle

20 Citations (Scopus)

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
StatePublished - 1988
Externally publishedYes

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Gangliosidoses
Muscle Hypertonia
Cortical Blindness
Cerebrum
Deafness
Nervous System
Brain Stem
Autopsy
Seizures
Skin
Growth
Simpson-Golabi-Behmel syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Simpson-Golabi-Behmel syndrome : Follow-up of the Michigan family. / Opitz, J. M.; Herrmann, J.; Gilbert, E. F.; Matalon, Reuben.

In: American Journal of Medical Genetics, Vol. 30, No. 1-2, 1988, p. 301-308.

Research output: Contribution to journalArticle

Opitz, JM, Herrmann, J, Gilbert, EF & Matalon, R 1988, 'Simpson-Golabi-Behmel syndrome: Follow-up of the Michigan family', American Journal of Medical Genetics, vol. 30, no. 1-2, pp. 301-308.
Opitz, J. M. ; Herrmann, J. ; Gilbert, E. F. ; Matalon, Reuben. / Simpson-Golabi-Behmel syndrome : Follow-up of the Michigan family. In: American Journal of Medical Genetics. 1988 ; Vol. 30, No. 1-2. pp. 301-308.
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