Bangstad syndrome

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

It was characterized in 1989.cite journal |author=Bangstad HJ, Beck-Nielsen H, Hother-Nielsen O, "et al" |title=Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome |journal=Acta Paediatr Scand |volume=78 |issue=3 |pages=488–93 |year=1989 |month=May |pmid=2662702 |doi= |url=]

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.

References

*cite journal|url=http://www.primordialdwarfism.com/fulltext-1.pdf|first=Judith G.|last=Hall|journal=American Journal of Medical Genetics|year=2004|title=Majewski Osteodysplastic Primordial Dwarfism Type II|coauthors=Christina Flora, Charles I. Scott Jr, Richard M. Pauli, and Kimi I. Tanaka1|doi=10.1002/ajmg.a.30203|volume=130a|pages=55