| Bangstad syndrome | |
|---|---|
| Other names | Ataxia-diabetes-goiter-gonadal insufficiency syndrome |
 | |
| This 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.
Treatment
 | This section is empty. You can help by adding to it. (August 2017) |
References
- 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.
- 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.
- ^ "Bangstad syndrome". Genetic and Rare Diseases Information Center. January 8, 2021. Retrieved November 15, 2023.
External links
| Classification | D |
|---|---|
| External resources |