[Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)].
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.
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010007:Osteochondritis / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D012863:Skeleton / Q000000981:diagnostic imaging*; D013577:Syndrome
Estenosis tubular diafisaria (síndrome de Kenny-Caffey). Presentación de cuatro observaciones.