2. Academic Validation
  3. Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases

Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases

  • Am J Med Genet. 1991 Nov 1;41(2):176-9. doi: 10.1002/ajmg.1320410208.
A H Lipson 1,  K Kozlowski,  A Barylak,  W Marsden
Affiliations

Affiliation

  • 1 Genetics and Dysmorphology Unit, Children's Hospital, Camperdown, Sydney, New South Wales, Australia.
PMID: 1785629 DOI: 10.1002/ajmg.1320410208
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.

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