Sheldon-Hall syndrome is a rare disease, which belongs to the group of distal arthrogryposis that shows distal joint contractures without primary neurological or muscular involvement. It has an autosomal dominant inheritance pattern, with several genes implicated in its etiopathogeny, although a genetic alteration has been demonstrated only in half of the affected patients. We present a case of this rare disease with neonatal diagnosis in a patient with no family history, in which we could demonstrate a genetic de novo pathogenic variant in TNNT3 gene. We also describe the phenotypic characteristics of this syndrome as well as the diagnosis, management and prognosis of these patients in the long term.

Introduction: Arthrogryposis multiplex congenita (AMC) is a term used to describe a disorder characterized by multiple, nonprogressive joint contractures at birth. The classic form of peripheral AMC, referred to as amyoplasia, is always sporadic. In neurogenic arthrogryposis, the most frequent form (90%), the initial injury would be in the anterior horn cells of the spinal cord, the nerve roots or the peripheral nerve.

Case reports: We report the cases of two newborns who pre¬sented similar clinical signs of amyoplasia. One had joint contractures, muscle atrophy and incontinence. The other had flaccid paraplegia with muscle atrophy in lower limbs and abdominal muscle atony. Both mothers had consumed cocaine during pregnancy. In both patients, neurophysiological exam¬ination demonstrated denervation at different levels of spinal cord.

Discussion: Necrosis of the fetal spinal cord caused by systemic hypotension has been postulated as a cause of amyoplasia. The mechanism of cocaine-related cerebrovascular accidents in adults is probably related to adrenergic stimulation, cerebral vasoconstriction and a sudden surge in blood pres¬sure. In our two cases, the clinical findings reported at birth were due to denervation at different levels of the spinal cord. Therefore, the defects in our patients may be associated with maternal use of cocaine during pregnancy, producing small vessel vasoconstriction and vascular disruption in the fetal spinal cord.