Two brothers with Martsolf's syndrome.
Two brothers affected by a syndrome consisting of short stature, hypogonadism, and severe mental retardation are reported. The syndrome shares the features of that described by Martsolf et al in two brothers born to a consanguineous Polish Jewish couple. Although our patients' parents are Sephardic Jews, they deny consanguinity. These observations and personal knowledge of another affected Jewish boy raise the question of whether Martsolf's syndrome is a new entity that should be included in the group of those that affect mainly Jewish people, and whether its pattern of inheritance is X linked recessive or autosomal recessive limited to males.
D000015:Abnormalities, Multiple / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D007585:Jews; D008297:Male; D010375:Pedigree; D013577:Syndrome