| Literature DB >> 3184141 |
H Rivera1, J M Perez-Salas, Z Nazara, M L Ramirez.
Abstract
A Mexican mestizo family is reported in which two opposite sexed sibs, born to consanguineous parents, had a skeletal dysplasia. The salient features were a bell shaped thorax owing to short ribs, short limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulae, and improvement with age. It is concluded that the present observation probably represents a distinct autosomal recessive thoraco-limb dysplasia identifiable at birth.Entities:
Mesh:
Year: 1988 PMID: 3184141 PMCID: PMC1051540 DOI: 10.1136/jmg.25.9.619
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318