Prenatal diagnosis of metatropic dwarfism.
Journal: Prenatal Diagnosis
Published:
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.
Authors
S Manouvrier Hanu, L Devisme, M Zelasko, P Bourgeot, C Vincent Delorme, A Valat Rigot, F Puech, J Farriaux
Relevant Conditions