Smith-Fineman-Myers syndrome: report on a large family.

Abstract

Smith-Fineman-Myers syndrome is considered an X-linked mental retardation (XLMR) syndrome. Three families have been reported to date. However, none presented a typical pattern of X-linked inheritance. Here we reported on 5 males with Smith-Fineman-Myers syndrome with similar phenotypic expression as in those cases reported previously; they were distributed in 4 sibships of one large maternal kindred. This finding adds strong support to the hypothesis of the Smith-Fineman-Myers syndrome being a rare XLMR syndrome.

• Authors: J Wei, B Chen, Y Jiang, Y Yang, Y Guo
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 47 Issue 3 Pg. 307-11 (Sep 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8135271 (Publication Type: Case Reports, Journal Article)

Topics

• Child
• Female
• Hand Deformities, Congenital (genetics)
• Heterozygote
• Humans
• Intellectual Disability (genetics)
• Male
• Muscle Hypotonia (congenital, genetics)
• Pedigree
• Phenotype
• Syndrome
• X Chromosome