Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).

Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur.

Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome.

We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema.

Short stature in a patient with cystic fibrosis caused by a 6.7-kb human growth hormone gene deletion.

A recent longitudinal study in children with cystic fibrosis (CF) challenged the common idea that CF is causing short stature. The data, however, showed clearly that short stature cannot be explained by CF alone after the first year of life. We report on a girl suffering from CF and short stature in whom DNA analysis using polymerase chain reaction and Southern blot techniques of the human growth hormone (hGH) gene cluster revealed a 6.