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Pallister-Hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations. This disorder is inherited as an autosomal dominant trait and is caused by mutations of the GLI3 gene encoding a zinc finger transcription factor. We describe a case of Pallister-Hall syndrome with growth hormone neurosecretory dysfunction, successfully treated with growth hormone until attainment of final height. We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone.

We report on two adolescents with 22q11 deletion. Their main clinical manifestation was chronic symptomatic hypocalcemia secondary to hypoparathyroidism, together with seizures and cerebral calcifications. Neither congenital cardiac abnormality nor T cell deficiency were detected. The phenotypic manifestations of the observed patients were consistent with velo-cardiofacial syndrome (VCFS). A microdeletion of chromosome region 22q11 has been demonstrated in approximately 90% of DiGeorge syndrome (DGS) patients and in 75% of VCFS patients; the association of the deletion with a wide spectrum of clinical findings suggests the existence of a contiguous gene syndrome. The presence of certain traits of DGS/VCFS should lead to investigations of parathtroid function and molecular analysis of the 22q11 region hybridization studies. 10 refs., 5 figs., 2 tabs.