Nutrition recommendations for patients with pseudohypoparathyroidism.

Pseudohypoparathyroidism (PHP) is a spectrum of diseases characterized by insensitivity of target tissues to the action of parathyroid hormone and, consequently, by the presence of hyperphosphatemia and hypocalcaemia of varying severity. Early-onset obesity is a feature of PHP type 1A. This article discusses the need to establish uniform criteria to guide the nutritional management of patients with PHP.

Rare neonatal diabetes insipidus and associated late risks: case report.

Background: Most cases of neonatal central diabetes insipidus are caused by an injury, which often results in other handicaps in the patient. The infant's prognosis will be determined by his or her own early age and disability as well as by the physician's skill. However, the rarity of this condition prevents the acquisition of personal experience dealing with it.

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.

This report describes a novel missense mutation in the interferon regulation factor 6 (IRF6) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).