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Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.
Authors:A H Lipson  K Kozlowski  A Barylak  W Marsden
Affiliation:Genetics and Dysmorphology Unit, Children's Hospital, Camperdown, Sydney, New South Wales, Australia.
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.
Keywords:
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