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Bangstad syndrome

FieldValue
synonymsAtaxia-diabetes-goiter-gonadal insufficiency syndrome
nameBangstad syndrome
imageAutosomal recessive - en.svg
captionThis condition is inherited in an autosomal recessive manner

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

It was characterized in 1989 by H. J. Bangstad.

Presentation

Presenting at birth, 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

Thyroid-stimulating hormone, parathyroid hormone, luteinizing hormone, follicle-stimulating hormone, adrenocorticotropic hormone, glucagon, and insulin levels in the blood are usually elevated.

References

References

  1. Bangstad HJ. (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.
  2. (20 July 2006). "Syndromes: rapid recognition and perioperative implications". McGraw-Hill Professional.
  3. (January 8, 2021). "Bangstad syndrome".
Info: Wikipedia Source

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