Skip to Main Content


Primordial bird-head nanism associated with progressive ataxia and multiple endocrinopathies.


Only two siblings from nonconsanguineous Norwegian parents have been described.


At the time of description, the older individual was a 26-year-old man; his sister was 16 years old. Both had dwarfism and a characteristic bird-like facies. The two siblings were mentally retarded and suffered from progressive ataxia and epilepsy. Multiple endocrinopathies included goiter, primary gonadal insufficiency, and insulin-resistant diabetes mellitus. Thyroid-stimulating hormone was elevated in one, but both were clinically euthyroid. Age at onset of diabetes mellitus in the male was 16 years; the girl was not diabetic at the time of description. Parathyroid hormone, luteinizing hormone, follicle-stimulating hormone, and adrenocorticotropic hormone levels were elevated.


Assessment of the endocrinologic status is most important prior to anesthesia. Hypothyroidism should be treated prior to surgery. Diabetes mellitus should be optimized if necessary. Adrenal insufficiency should be suspected and, depending on the extent of the procedure, a stress dose of steroids should be considered. Relative resistance not only to insulin, but also to other external hormones might be expected. Depending on the extent of the facial abnormalities, airway management may be difficult.

Bangstad H-J, Beck-Nielsen H, Hother-Nielsen O, et al: Primordial bird-head nanism associated with progressive ataxia, early onset insulin-resistant diabetes, goiter, and primary gonadal insufficiency. Acta Paediatr Scand 78:488, 1989.  [PubMed: 2662702]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.