| Literature DB >> 7406361 |
A Sarría, F Toledo, J Toledo, M L Vega, S López, M Bueno.
Abstract
Four new observations of diaphysary tubular stenosis or Kenny-Caffey's syndrome are studied, the first in the spanish literature. They belong to two unrelated families. Cases 1 and 2 are a son and his mother; cases 3 and 4 are first cousins of, apparently, normal consanguineous parents. In the last two cases hypocalcemic tetany of recurrent evolution and congenital glaucoma were verified. For the purpose of this serie a revision is made of the cases reported on the literature. They are a total of eight observations, including the cases studied in this paper. A discussion is made, especially, on the genetic mechanism of this skeletal dysplasia, which in cases 3 and 4 present remarkable peculiarities.Entities:
Mesh:
Year: 1980 PMID: 7406361
Source DB: PubMed Journal: An Esp Pediatr ISSN: 0302-4342