Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane. It was characterized in 1989 by H. J. Bangstad.
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 intellectual disability, hypothyroidism, insulin resistance, hypoparathyroidism.
Diagnosis Thyroid-stimulating hormone, parathyroid hormone, luteinizing hormone, follicle-stimulating hormone, adrenocorticotropic hormone, glucagon, and insulin levels in the blood are usually elevated.
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