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...
Gespeichert in:
Veröffentlicht in: | American journal of medical genetics 1991-11, Vol.41 (2), p.176-179 |
---|---|
Hauptverfasser: | , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
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 |