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 by H. J. Bangstad. [1]
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. [3]
Thyroid-stimulating hormone, parathyroid hormone, luteinizing hormone, follicle-stimulating hormone, adrenocorticotropic hormone, glucagon, and insulin levels in the blood are usually elevated. [3]
This section is empty. You can help by
adding to it. (August 2017) |
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 by H. J. Bangstad. [1]
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. [3]
Thyroid-stimulating hormone, parathyroid hormone, luteinizing hormone, follicle-stimulating hormone, adrenocorticotropic hormone, glucagon, and insulin levels in the blood are usually elevated. [3]
This section is empty. You can help by
adding to it. (August 2017) |