Bangstad Syndrome

Clinical Features

Bangstad et al. (1989) described 2 sibs, a 26-year-old male and his 16-year-old sister, born of nonconsanguineous Norwegian parents, who had primordial bird-headed dwarfism, progressive ataxia, goiter, primary gonadal insufficiency, and insulin-resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin, all hormones working through cell membrane receptors, were elevated. Bangstad et al. (1989) suggested that a generalized cell membrane defect was responsible for the pathophysiologic abnormality in these patients.