Bangstad syndrome
Template:Infobox medical condition (new)
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 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
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