Tian Meng1, Ming Bai1, Ru Zhao1. 1. Department of Plastic and Aesthetic Surgery, Peking Union Medical College Hospital, Beijing, China.
Abstract
BACKGROUND: Poland syndrome and Müllerian duct agenesis (Mayer-Rokitansky-Küster-Hauser(MRKH)-like syndrome) are two rare congenital anomalies with unclear etiology. CASE REPORT: An 18-year-old female presented with hypoplasia of the left pectoralis muscles and subcutaneous tissue, hypoplasia of the left breast and nipple, and dextrocardia, typical in those with a severe form of Poland syndrome. She also showed aplasia of the vagina and uterus, bilateral ovarian agenesis, and hyperandrogenism, presenting as MRKH-like syndrome. CONCLUSION: It is plausible to assume that these two congenital anomalies which arose from distant sites may be interrelated. More cases and further studies will certainly help delineate the pathogenesis of these syndromes.
BACKGROUND: Poland syndrome and Müllerian duct agenesis (Mayer-Rokitansky-Küster-Hauser(MRKH)-like syndrome) are two rare congenital anomalies with unclear etiology. CASE REPORT: An 18-year-old female presented with hypoplasia of the left pectoralis muscles and subcutaneous tissue, hypoplasia of the left breast and nipple, and dextrocardia, typical in those with a severe form of Poland syndrome. She also showed aplasia of the vagina and uterus, bilateral ovarian agenesis, and hyperandrogenism, presenting as MRKH-like syndrome. CONCLUSION: It is plausible to assume that these two congenital anomalies which arose from distant sites may be interrelated. More cases and further studies will certainly help delineate the pathogenesis of these syndromes.
Authors: Lorna S Timmreck; Mark R Gray; Barbara Handelin; Bernice Allito; Elizabeth Rohlfs; Ann J Davis; Gita Gidwani; Richard H Reindollar Journal: Am J Med Genet A Date: 2003-07-01 Impact factor: 2.802