Arthrogryposis multiplex congenita: report of a case of amyoplasia.
Arthrogryposis multiplex congenita is a congenital syndrome characterized by multiple congenital joint contractures; and refers to a large heterogeneous group of disorders. We present a 40 days old male baby who has had multiple fixed contractures of joints since birth. Midline capillary hemangioma, internal rotation of bilateral shoulders, extension contracture of elbows, flexed wrists with pronation deformity, flexion and internal rotation of hips, equinovarus of feet were noted. A series of examinations for differential diagnosis including brain sonogram, echocardiogram, muscle echogram, muscle biopsy, chromosome study were performed and all showed normal findings. Amyoplasia was impressed. Early rehabilitation was arranged. Normal intelligence and a normal life span are expected.
Yang
M T
MT
Department of Pediatrics, Taichung Veterans General Hospital, Taipei, R.O.C.
Chen
C H
CH
Mak
S C
SC
Wu
K H
KH
Chi
C S
CS
D001176:Arthrogryposis / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male