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Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.
Am J Med Genet. 1988 May-Jun; 30(1-2):301-8.AJ

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.

Authors+Show Affiliations

Opitz JM
Shodair Children's Hospital, Helena, MT 59604.
Herrmann J
No affiliation info available
Gilbert EF
No affiliation info available
Matalon R
No affiliation info available

MeSH

Abnormalities, MultipleChild, PreschoolGenetic LinkageGigantismHumansIntellectual DisabilityMalePhenotypeSyndromeX Chromosome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3177456

Citation

Opitz, J M., et al. "Simpson-Golabi-Behmel Syndrome: Follow-up of the Michigan Family." American Journal of Medical Genetics, vol. 30, no. 1-2, 1988, pp. 301-8.
Opitz JM, Herrmann J, Gilbert EF, et al. Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. Am J Med Genet. 1988;30(1-2):301-8.
Opitz, J. M., Herrmann, J., Gilbert, E. F., & Matalon, R. (1988). Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. American Journal of Medical Genetics, 30(1-2), 301-8.
Opitz JM, et al. Simpson-Golabi-Behmel Syndrome: Follow-up of the Michigan Family. Am J Med Genet. 1988 May-Jun;30(1-2):301-8. PubMed PMID: 3177456.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. AU - Opitz,J M, AU - Herrmann,J, AU - Gilbert,E F, AU - Matalon,R, PY - 1988/5/1/pubmed PY - 1988/5/1/medline PY - 1988/5/1/entrez SP - 301 EP - 8 JF - American journal of medical genetics JO - Am J Med Genet VL - 30 IS - 1-2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3177456/Simpson_Golabi_Behmel_syndrome:_follow_up_of_the_Michigan_family_ DB - PRIME DP - Unbound Medicine ER -