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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Neonatal-onset panhypopituitarism in a girl with Brachmann-De Lange syndrome.

We report on a girl with recurrent hypoglycemia since age 2 days and severe impairment of physical and neurological development. Panhypopituitarism was recognized at age 5 months. The diagnosis of Brachmann-De Lange syndrome (BDLS) was also made. Replacement therapy has avoided further episodes of hypoglycemia, improved growth, and allowed partial psychomotor catch-up. Though we are not aware of any other report of panhypopituitarism in patients with BDLS, we suggest that hormonal derangement may play a role in the manifestations of this syndrome.[1]


  1. Neonatal-onset panhypopituitarism in a girl with Brachmann-De Lange syndrome. Tonini, G., Marinoni, S. Am. J. Med. Genet. (1990) [Pubmed]
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