A family with multiple musculoskeletal abnormalities.
AUTOR(ES)
Barber, K E
RESUMO
A family with multiple musculoskeletal abnormalities is reported. The disorder is characterised by platyspondyly, abnormality of the upper femoral epiphyses, and the development of precocious osteoarthritis. It is proposed that this family represents an example of autosomal dominantly inherited spondyloepiphyseal dysplasia tarda (SED tarda).
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1001482Documentos Relacionados
- Empirical recurrence risk after unidentified multiple congenital abnormalities.
- Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities.
- A new recessive syndrome of unusual facies and multiple structural abnormalities.
- T cell non-Hodgkin's lymphoma with uveitis, pancreatitis, digital gangrene and multiple chromosomal abnormalities.
- Filippi syndrome: a new case with skeletal abnormalities.
