Holoprosencephaly with neurogenic hypernatremia: a new case
2007
Background
Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and mid-face in humans. It is a disorder of neural induction in which a genetic programming defect results in noncleavage of the forebrain in the sagittal plane and variable hypoplasia of paramedian structures. It occurs in 5–12/10,000 live births. Clinically, there is a nearly continuous spectrum of malformations consistent with HPE. Endocrinopathies, such as diabetes insipidus, hypothyroidism, hypocorticism, and growth hormone deficiency, are frequently associated with HPE. Seizures may occur.
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