| Literature DB >> 19533787 |
Anwar Baban1, Michele Torre, Sebastiano Bianca, Anna Buluggiu, Mario Igor Rossello, Maria Grazia Calevo, Maura Valle, Roberto Ravazzolo, Vincenzo Jasonni, Margherita Lerone.
Abstract
Poland syndrome (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper limb anomalies. Bilateral hypoplasia/aplasia of the pectoralis muscle and upper limb defects in association with variable thoracic muscles, chest wall deformities and lower limb defects have been infrequently reported in the literature. We report on a 3(1/2)-year-old girl with clinical features consisting in bilateral asymmetric pectoral muscle defects (complete agenesis on the left side and agenesis of the sternocostal head on the right side), nipple hypoplasia, left rib defect, and right hand symbrachydactyly. In this study, we reviewed the bilateral features present in our patient and those described in the literature. Hypotheses explaining bilateral features in PS are reviewed.Entities:
Mesh:
Year: 2009 PMID: 19533787 DOI: 10.1002/ajmg.a.32922
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802