Ontology highlight
ABSTRACT:
SUBMITTER: Vaccari CM
PROVIDER: S-EPMC4051386 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Vaccari Carlotta Maria CM Romanini Maria Victoria MV Musante Ilaria I Tassano Elisa E Gimelli Stefania S Divizia Maria Teresa MT Torre Michele M Morovic Carmen Gloria CG Lerone Margherita M Ravazzolo Roberto R Puliti Aldamaria A
BMC medical genetics 20140530
<h4>Background</h4>Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms underlying PS development are still unknown.<h4>Case presentation</h4>Here we describe a couple of monozygotic (MZ) twin girls, both presenting with Poland Syndrome. They carry a de novo heterozygou ...[more]