| Literature DB >> 1785629 |
A H Lipson1, K Kozlowski, A Barylak, W Marsden.
Abstract
We describe 2 patients with bilateral right-angle bowing of femora, absence of fibulae, and reduced, flattened and nail-less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non-consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in "Skeletal Dysplasias," New York: Alan R. Liss, Inc., pp 519-524), indicating possible autosomal recessive inheritance of this rare non-lethal limb malformation syndrome.Entities:
Mesh:
Year: 1991 PMID: 1785629 DOI: 10.1002/ajmg.1320410208
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299