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Smith-Fineman-Myers syndrome: report on a large family
1Department of Medical Genetics, Shandong Medical University, Jinan, People's Republic of China.
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.
Insights
Smith-Fineman-Myers syndrome, a rare X-linked mental retardation (XLMR) condition, is further supported by this study. Five males in one large kindred exhibited typical symptoms, strengthening the XLMR hypothesis.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Smith-Fineman-Myers syndrome is classified as an X-linked mental retardation (XLMR) syndrome.
- Previous reports on three families did not exhibit a typical X-linked inheritance pattern.
Observation:
- This study details five males with Smith-Fineman-Myers syndrome within a large maternal kindred.
- These individuals displayed phenotypic characteristics consistent with previously documented cases.
Findings:
- The observed pattern in five males across four sibships provides significant evidence for Smith-Fineman-Myers syndrome.
- This strengthens the classification of the syndrome as a rare X-linked mental retardation disorder.
Implications:
- The findings support the hypothesis that Smith-Fineman-Myers syndrome is indeed a rare XLMR syndrome.
- Further research into the genetic basis and inheritance patterns of XLMR syndromes is warranted.