M. Larrandaburu et al., The occurrence of Poland and Poland-Moebius syndromes in the same family: further evidence of their genetic component, CLIN DYSMOR, 8(2), 1999, pp. 93-99
The combination of Moebius and Poland anomalies is rarely described in the
literature. Some authors believe that this association is an independent sy
ndrome, while others propose that Poland, Moebius and Poland-Moebius are a
spectrum of the same condition. Here we report a family where a child has P
oland-Moebius syndrome and an aunt is affected with Poland anomaly. This pr
obably represents the second report of possible autosomal dominant transmis
sion of Poland-Moebius syndrome. The presence of contralateral triphalangea
l thumb in the proband and in other members of the family can be explained
by chance alone or, alternatively, by a pleiotropic expression of this gene
. Clin Dysmorphol 8: 93-99 (C) 1999 Lippincott Williams & Wilkins.