[Hereditary Poland syndrome with megacalycosis of the right kidney].
Poland's syndrome is characterized by congenital aplasia of the sternocostal head of the pectoralis major muscle associated with ipsilateral hand deformities (most often synbrachydactylia). 20% of patients have rib cage abnormalities, some with herniation of the lung. In some cases other associated ipsilateral anomalies (hypoplasia or absence of the nipple and/or the breast, defects of the vertebrae, dextrocardia, renal aplasia of hypoplasia, undescended testes, Möbius syndrome) have been described. We describe a patient with right-sided Poland's syndrome, the first published case associated with megacalycosis of the ipsilateral kidney. It is also the first publication of a familial case with this renal anomaly, since a brother has megacalycosis of the right kidney without Poland's syndrome. The majority of cases of Poland's syndrome are sporadic. The incidence has been estimated at between 1:30,000 and 1:80,000 of live births. The great uncle of our patient had a short forearm and only rudimentary fingers. The etiology of the syndrome is unknown. Toxic effects early in fetal life or effects on primary asymmetrical blood vessels, e.g. the subclavian artery, followed by uneven growth, are discussed as possible causes of Poland's syndrome.
Briner
V
V
Departement für Innere Medizin, Universitätsspital Basel.
Thiel
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001940:Breast / Q000002:abnormalities; D005260:Female; D006801:Humans; D006977:Hypertension, Renal / Q000209:etiology; D007679:Kidney Medulla / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D010375:Pedigree; D011045:Poland Syndrome / Q000150:complications* / Q000235:genetics; D013576:Syndactyly / Q000150:complications*; D014567:Urography
Hereditäres Poland-Syndrom mit Megacalicose der rechten Niere.