Smith-Fineman-Myers syndrome: report on a large family.
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.
Wei
J
J
Department of Medical Genetics, Shandong Medical University, Jinan, People's Republic of China.
Chen
B
B
Jiang
Y
Y
Yang
Y
Y
Guo
Y
Y
D002648:Child; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014960:X Chromosome