Poland Syndrome (cont.)

Medical Author:

John Mersch, MD, FAAP

John Mersch, MD, FAAP

Dr. Mersch received his Bachelor of Arts degree from the University of California, San Diego, and prior to entering the University Of Southern California School Of Medicine, was a graduate student (attaining PhD candidate status) in Experimental Pathology at USC. He attended internship and residency at Children's Hospital Los Angeles.

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Medical Editor:

William C. Shiel Jr., MD, FACP, FACR

William C. Shiel Jr., MD, FACP, FACR

Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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The child with Poland syndrome usually is entirely normal except for the problems already noted. The skin in the involved area may be abnormally thinned or missing underlying fat normally present beneath the skin. Very rarely, the rib cage on the involved side may be underdeveloped or missing. Equally rare may be the abnormal development of the shoulder blade (scapula) or bones of the forearm (radius and ulna) on the affected side of the body. Spine and kidney malformations are also occasionally reported in patients with Poland syndrome. Intelligence is not impaired in Poland syndrome.

Geneticists currently hold that Poland syndrome is rarely inherited and generally is a sporadic event. There are rare instances where more than one individual has been identified with Poland syndrome either in the immediate or extended family. Experience with an affected parent passing the syndrome to offspring has been described. Similarly, there are reports in the literature of affected siblings born to unaffected parents. The exact mode of genetic transmission has not been determined. Research is centering on inherited mechanisms dealing with intrauterine reduction of blood flow to the affected areas.

When the changes of Poland Syndrome are noted, the diagnosis can be suspected in the newborn period. Specialized studies (x-rays, computerized tomography [CT scans]) and magnetic resonance imaging (MRI) studies may be utilized to delineate the anatomy of the involved area(s). Such an understanding is necessary for reconstructive surgery (see below). Mild cases of Poland syndrome may not be apparent until the child has matured or even until puberty. During this time, differences in body development may be more pronounced—especially in female breast development.

Source: MedicineNet.com
http://www.medicinenet.com/poland_syndrome/article.htm