Thursday, March 22, 2007

New Diagnosis for Poland's Syndrome

On Wednesday we took our six-month-old daughter to see Dr. Steven Moran at Shriners Hospital in Minneapolis. He quickly diagnosed her with Poland's Syndrome. According to this overview by the National Organization for Rare Disorders:

Poland Syndrome is a rare condition that is evident at birth (congenital). Associated features may be extremely variable from case to case. However, it is classically characterized by absence (aplasia) of chest wall muscles on one side of the body (unilateral) and abnormally short, webbed fingers (symbrachydactyly) of the hand on the same side (ipsilateral).

In those with the condition, there is typically unilateral absence of the pectoralis minor and the sternal or breastbone portion of the pectoralis major. The pectoralis minor is a thin, triangular muscle of the upper chest wall; the pectoralis major is a large, fanlike muscle that covers most of the upper, front part of the chest.

Affected individuals may have variable associated features, such as underdevelopment or absence of one nipple (including the darkened area around the nipple [areola]) and/or patchy absence of hair under the arm (axilla). In females, there may be underdevelopment or absence (aplasia) of one breast and underlying (subcutaneous) tissues. In some cases, associated skeletal abnormalities may also be present, such as underdevelopment or absence of upper ribs; elevation of the shoulder blade (Sprengel deformity); and/or shortening of the arm, with underdevelopment of the forearm bones (i.e., ulna and radius).

Our daughter appears to have the classic symptoms of the disorder minus any skeletal abnormalities in her ribs and shoulder blade. I based this last comment on an x-ray she had at three-months-old that didn't appear to show anything abnormal. It is certain she's missing at least one of her pectoral muscles.

There is likely to be surgical procedures down the road that are both functional and cosmetic in nature. I'll cover more on the condition, treatment options, and related topics in subsequent posts.

As for our daughter's hand, Dr. Moran was as optimistic about her function and prognosis as the other specialists, orthapedists, hand surgeons and pediatricians we've met with.

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