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Case Report – Infertile Man with Amyoplasia Presents with Non-Obstructive Azoospermia and Undergoes a Successful IVF-Icsi Cycle

Amyoplasia is the most common form of arthrogryposis (multiple congenital contractures) presenting in the newborn period. Amyoplasia occurs sporadically, without evidence of a hereditary pattern, and refers to a specific pattern of contractures together with the replacement of most of the muscle tissue of the limbs with adipose and fibrous tissue (A=no, myo=muscle, plasia=growth). Most affected individuals have normal to high intelligence (Hall et al., 1983).  Amyoplasia is associated with normal cognitive function and has the following characteristic features: internally rotated shoulders, extended elbows, ulnarly deviated/flexed writs, camptodactyly, dislocated hips, extended knees and contracted feet (Bamshad et al., 2009). With the surgical success of multiple orthopedic surgeries and excellent long-term care for activities of daily living, patients with Amyoplasia are able to consider having families (Sells et al., 1996).

 

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