TY - JOUR
T1 - Poland syndrome with bilateral features
T2 - Case description with review of the literature
AU - Baban, Anwar
AU - Torre, Michele
AU - Bianca, Sebastiano
AU - Buluggiu, Anna
AU - Rossello, Mario Igor
AU - Calevo, Maria Grazia
AU - Valle, Maura
AU - Ravazzolo, Roberto
AU - Jasonni, Vincenzo
AU - Lerone, Margherita
PY - 2009/7
Y1 - 2009/7
N2 - 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 31/2-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.
AB - 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 31/2-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.
KW - Asymmetry
KW - Bilaterality
KW - Isolated pectoral muscle defects
KW - Poland syndrome (PS)
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U2 - 10.1002/ajmg.a.32922
DO - 10.1002/ajmg.a.32922
M3 - Article
C2 - 19533787
AN - SCOPUS:67649891991
SN - 1552-4825
VL - 149
SP - 1597
EP - 1602
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 7
ER -