The occurrence of Poland and Poland-Moebius syndromes in the same family: further evidence of their genetic component

Citation
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
Citations number
42
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
2
Year of publication
1999
Pages
93 - 99
Database
ISI
SICI code
0962-8827(199904)8:2<93:TOOPAP>2.0.ZU;2-0
Abstract
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.