Abstract:

Aim: Chilhood Poland syndrome is a congenital syndrome that is characterized by pectoralis major hypoplasia, variable upper extremity deformities and chest malformations. The aim of this study was to review the age, sex, accompanying symptoms, radiological, and laboratory tests findings in patients with Poland syndrome and to increase the recognizability of the syndrome in childhood. Materials and Methods: Patient records of eleven children (7 boys and 4 girls) aged between 3 months and 17 years, presented with chest deformity between January 2010 and January 2014 to the Pediatric Genetic clinic, were examined retrospectively. Age, sex, family history, clinical findings, radiological, and laboratory test findings, chromosomal analysis and psychometric analysis were recorded. Results: The absence of the right sided pectoralis major (9/11) was the most common side in our patients. Limb abnormalities as like brachydactyly (10/11), syndactyly (5/11) were observed. Among vertebral pathologies 3 patients had scoliosis and a patient had spina bifida. Dextrocardia, and mild mitral and tricuspid regurgitation were detected. In two cases there was a history of pyelonephritis. Only one patient had a mild mental retardation. All chromosome analyses were normal. A patient had breast surgery, and two patients underwent syndactyly operation. Conclusion: Poland syndrome is usually diagnosed in adulthood due to cosmetic problems. However, in recent years it has come to be diagnosed in childhood as well. To our knowledge, this is the first case series that summarizes the clinical findings of the syndrome in childhood period. We should stress the importance of keeping Poland syndrome diagnosis in mind on the grounds of chest deformities in childhood, breast and nipple abnormalities, abnormalities of the fingers and arm hypoplasia and a multidisciplinary monitoring of the patients is necessary. Early and correct diagnosis, and reducing the concerns of parents prevent unnecessary investigations and provide a successful treatment.

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