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Bangstad syndrome
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    Bangstad syndrome

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    Bangstad syndrome
    Other names Ataxia-diabetes-goiter-gonadal insufficiency syndrome
    Autosomal recessive - en.svg
    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.

    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.

    Diagnosis

    Treatment

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