Bangstad syndrome

Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane.

Bangstad syndrome
Other namesAtaxia-diabetes-goiter-gonadal insufficiency syndrome
This condition is inherited in an autosomal recessive manner

It was characterized in 1989.[1]

Presentation

Presenting at birth,[2] features of the disorder include moderately severe IUGR, microcephaly, craniosynostosis, moderately severe post uterine growth retardation, deafness, deep set eyes, cryptorchidism, truncal obesity and acanthosis nigricans, small teeth, prognathism, dislocated radial heads without generalized skeletal dysplasia, however, tall vertebrae, moderate mental retardation, hypothyroidism, insulin resistance, hypoparathyroidism.

Diagnosis

References
  1. Bangstad HJ, Beck-Nielsen H, Hother-Nielsen O, et al. (May 1989). "Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome". Acta Paediatr Scand. 78 (3): 488–93. doi:10.1111/j.1651-2227.1989.tb11119.x. PMID 2662702. S2CID 38984786.
  2. Bruno Bissonnette; Igor Luginbuehl; Bernard J. Dalens (20 July 2006). Syndromes: rapid recognition and perioperative implications. McGraw-Hill Professional. pp. 92–. ISBN 978-0-07-135455-4. Retrieved 29 June 2010.


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