Case presentation: This is a five-year-old boy, admitted with global development delay associated limb deformities. He was born prematurely at 35 weeks, by cesarean delivery due to pelvic presentation. During pregnancy, the mother noticed reduced fetal movements, and birth, neonatal resuscitation hospitalization required. congenital arthrogryposis (CA), thumbs in bilateral adduction, restricted...

Two patients with congenital cervical spinal muscular atrophy had symmetrical severe muscle weakness and wasting confined to the upper limbs, areflexia and congenital contractures. The shoulders were internally rotated, elbows extended and wrists flexed. There were no sensory or bulbar symptoms, scoliosis, long tract signs or lower limb involvement. This condition should be regarded as a neurog...

Freeman-Sheldon syndrome was diagnosed in an unrelated adult man and woman, with severe abnormalities of the extremities but only slight anomalies of the face. Electromyography and muscle biopsy showed a myopathy which was classified as a congenital disproportion of fibre type and seemed to be the primary cause of the deformities. This allowed classification of the syndrome as a separate type o...

Spinal dysraphism, not associated with vertebral defect or arthrogryposis, was found in a 3-day-old Holstein-Friesian calf that was clinically diagnosed as having encephalopathy. The dysraphic lesion occurred in the sixth (C6) and seventh (C7) segments of the cervical spinal cord. Microscopically, the lesion was characterized by hydromyelia, syringomyelia, anomaly of the ventral median fissure,...