| 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.[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[clarification needed] and acanthosis nigricans, small teeth, prognathism, dislocated radial heads without generalized skeletal dysplasia, however, tall vertebrae, moderate mental retardation, hypothyroidism, insulin resistance, hypoparathyroidism.[3]
Diagnosis
Thyroid-stimulating hormone, parathyroid hormone, luteinizing hormone, follicle-stimulating hormone, adrenocorticotropic hormone, glucagon, and insulin levels in the blood are usually elevated.[3]
Treatment
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.
- ^ a b "Bangstad syndrome". Genetic and Rare Diseases Information Center. January 8, 2021. Retrieved November 15, 2023.
External links
This page was last edited on 19 March 2024, at 01:32