Geroderma osteodysplastica. A report of two affected families. Human genetics. [Hum Genet] Journal article

This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal elastic recoil. The bones are osteoporotic and susceptible to fractures, particularly the vertebrae, which show compression with anterior wedging and biconcavity. The findings in the present families are compared with those in the originally reported family. There was a high degree of consanguinity between the parents in both of the present families and the previous hypothesis of X-linked inheritance is questioned.

Human genetics. [Hum Genet]

Bone Diseases, Developmental
Child
Child, Preschool
Consanguinity
Female
Fractures, Bone
Humans
Infant
Male
Osteoporosis
Pedigree
Skin Abnormalities
Spine
Syndrome