6533b7d0fe1ef96bd125a155
RESEARCH PRODUCT
A rare form of spondylometaphyseal dysplasia-type A4
Jochen TroegerJürgen W. SprangerT. DuettingA. Schulzesubject
musculoskeletal diseasesmedicine.medical_specialtybusiness.industryDwarfismOvoid vertebraeAnatomymusculoskeletal systemmedicine.diseaseOsteochondrodysplasiaEndocrinologySpondylometaphyseal dysplasiaDysplasiaInternal medicinemedicinePlatyspondylysense organsMild platyspondylyCongenital diseasebusinessGenetics (clinical)description
We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior tonguing of the vertebral bodies. The inheritance may be autosomal recessive.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1998-06-16 | American Journal of Medical Genetics |