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

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 th...

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Veröffentlicht in:American journal of medical genetics 1991-11, Vol.41 (2), p.176-179
Hauptverfasser: Lipson, Anthony H., Kozlowski, Kazimierz, Barylak, Antoni, Marsden, William
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Sprache:eng
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Zusammenfassung: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320410208