Akademik Veri Yönetim Sistemi
V. Ulusal Tıbbi Genetik Kongresi, Konya, Türkiye, 9 - 12 Ekim 2002, cilt.1, sa.1, ss.9
Amyoplasia is a ran~. sporadic condition characterized by different degrees of maldevelopment of
the skeletal muscks, which are replaced by fibrous and fatty tissue. In this report we present a case
of generalized amyoplasia diagnosed clinically at 12th day of life. The most striking findings
were a row1d face \:vi th a mid-line haemangioma, mi Id micrognathia, symmetrical contractures on
upper and lower extremities, a firm fibrous band on left elbow, right humerus fracture as a
complication of sectio delivery due to breech presentation, dislocated hips with equinovarus feet
and lack of labium major. Photos and X-ray graphies were taken.Ultrasonographic evaluation
revealed no visceral abnormalities. Eye examination was normal. Cranial CAT scan and
electromyography for muscle response were ordered. Chromosome analysis revealed 46 XX
~aryotyp~. The c~se was send to University Hospital for further orthopedic and rehabilitative
mtervent1ons. This report suggests that generalized amyoplasia could be a common cause of
severe forms of multiple congenital
contr~ctures but once it is diagnosed with early orthopedic and rehabilitative therapy the
functional outcome can be excellent.