Bangstad syndrome
| 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.[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.[citation needed]
Diagnosis
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Treatment
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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.
External links
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