| Literature DB >> 7479594 |
S Manouvrier-Hanu1, L Devisme, M C Zelasko, P Bourgeot, C Vincent-Delorme, A S Valat-Rigot, F Puech, J P Farriaux.
Abstract
We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal features of this rare autosomal recessive chondrodysplasia appear to be significant dwarfism with an enlarged head and a narrow thorax associated with enlargement of the hands and feet, and the radiographic 'dumb-bell' appearance of the long bones.Entities:
Mesh：
Year: 1995 PMID： 7479594 DOI： 10.1002/pd.1970150811
Source DB: PubMed Journal: Prenat Diagn ISSN： 0197-3851 Impact factor: 3.050