Phenotypic and genetic analysis of the silver-Russell syndrome.
A family is reported in which two half-siblings present clinical findings suggestive of the Silver-Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.
D002675:Child, Preschool; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011629:Puberty, Precocious / Q000235:genetics*; D013577:Syndrome