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

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Only two siblings from nonconsanguineous Norwegian parents have been described.

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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.

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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]

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