[Type C hereditary brachydactyly].
We report 2 generations with type C hereditary brachydactyly of dominant autosomal inheritance of variable expressiveness. The most characteristic data was the shortening of the middle phalanges of the second, third and fifth finger as well as the first metacarpal. Short stature was observed in three of the patients studied. The goal of this study was aimed at stimulating GH pharmacologically and determining its 24 h physiologic secretion, as well as somatomedin C levels. All the determinations were within the normal range. The deficient growth shown by these patients is a constitutional growth delay, possibly an expression of type C brachydactyly.
Lorenzo Sanz
G
G
Barrios Castellanos
R
R
Quintana Castilla
A
A
Corbatón Blasco
J
J
García Lacalle
C
C
D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging
Braquidactilia hereditaria tipo C.