| Bangstad syndrome | |
| Classification and external resources | |
| OMIM | 210740 |
|---|---|
| eMedicine | / |
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, 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
- ^ 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:. PMID 2662702.
- Hall, Judith G.; Christina Flora, Charles I. Scott Jr, Richard M. Pauli, and Kimi I. Tanaka1 (2004). "Majewski Osteodysplastic Primordial Dwarfism Type II" (PDF). American Journal of Medical Genetics 130a: 55. doi:. http://www.primordialdwarfism.com/fulltext-1.pdf.
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