Geroderma osteodysplastica
| Autor: | Martin H. Reed, John T. Martsolf, Alasdair G. W. Hunter, Charles G. Baker |
|---|---|
| Rok vydání: | 1978 |
| Předmět: |
Male
Bone Diseases Developmental Anterior wedging Infant Syndrome Consanguinity Biology medicine.disease Gerodermia osteodysplastica Spine Pedigree Fractures Bone Prematurely aged appearance Child Preschool Skin Abnormalities Genetics medicine Humans Osteoporosis Female Child Genetics (clinical) Demography |
| Zdroj: | Human Genetics. 40:311-324 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00272192 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink