| Literature DB >> 7220870 |
R Miething, B Stöver, S Tuengerthal, D Winterling, J Svejcar.
Abstract
Report on 2 cases of dyssegmental dwarfism, a rare lethal form of dwarfism. Both male newborns died from asphyxia immediately after delivery. Its features are malformations of the first visceral arch (Pierre-Robin-Syndrome) malformations of all extremities (Camptomicromelia) and severe malformations of the spine (Anisospondyly), with the vertebral changes serving as the main differential diagnostic feature. Among other things, these malformations are due to defective enchondral ossification; and the disease is presumably autosomal recessive.Entities:
Mesh:
Year: 1981 PMID: 7220870
Source DB: PubMed Journal: Radiologe ISSN: 0033-832X Impact factor: 0.635