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Poland syndrome with bilateral features: Case description with review of the literature
Author(s) -
Baban Anwar,
Torre Michele,
Bianca Sebastiano,
Buluggiu Anna,
Rossello Mario Igor,
Calevo Maria Grazia,
Valle Maura,
Ravazzolo Roberto,
Jasonni Vincenzo,
Lerone Margherita
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32922
Subject(s) - poland syndrome , aplasia , hypoplasia , medicine , agenesis , anatomy , upper limb , pectoralis major muscle , rib cage , pectoral muscle , surgery
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 3½‐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. © 2009 Wiley‐Liss, Inc.