A case report: Amyoplasia ”Classical artrogryposis”

Abstract

Amyoplasia is a ran~. sporadic condition characterized by different degrees of maldevelopment ofthe skeletal muscks, which are replaced by fibrous and fatty tissue. In this report we present a caseof generalized amyoplasia diagnosed clinically at 12th day of life. The most striking findingswere a row1d face \:vi th a mid-line haemangioma, mi Id micrognathia, symmetrical contractures onupper and lower extremities, a firm fibrous band on left elbow, right humerus fracture as acomplication of sectio delivery due to breech presentation, dislocated hips with equinovarus feetand lack of labium major. Photos and X-ray graphies were taken.Ultrasonographic evaluationrevealed no visceral abnormalities. Eye examination was normal. Cranial CAT scan andelectromyography for muscle response were ordered. Chromosome analysis revealed 46 XX~aryotyp~. The c~se was send to University Hospital for further orthopedic and rehabilitativemtervent1ons. This report suggests that generalized amyoplasia could be a common cause ofsevere forms of multiple congenitalcontr~ctures but once it is diagnosed with early orthopedic and rehabilitative therapy thefunctional outcome can be excellent.