Smith-Fineman-Myers syndrome is considered an X-linked mental retardat
ion (XLMR) syndrome. Three families have been reported to date. Howeve
r, none presented a typical pattern of X-linked inheritance. Here we r
eported on 5 males with Smith- Fineman-Myers syndrome with similar phe
notypic expression as in those cases reported previously; they were di
stributed in 4 sibships of one large maternal kindred. This finding ad
ds strong support to the hypothesis of the Smith-Fineman-Myers syndrom
e being a rare XLMR syndrome. (C) 1993 Wiley-Liss, Inc.