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 |
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| container_end_page | 179 |
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| container_title | American journal of medical genetics |
| container_volume | 41 |
| creator | Lipson, Anthony H. Kozlowski, Kazimierz Barylak, Antoni Marsden, William |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.1320410208 |
| format | Article |
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J. Med. Genet</addtitle><description>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.</description><subject>Abnormalities, Multiple - genetics</subject><subject>autosomal recessive</subject><subject>Biological and medical sciences</subject><subject>Consanguinity</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Femur - abnormalities</subject><subject>Fibula - abnormalities</subject><subject>fibula deficiency</subject><subject>Foot Deformities, Congenital - genetics</subject><subject>Genes, Recessive</subject><subject>Hand Deformities, Congenital - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>inheritance</subject><subject>Kidney - abnormalities</subject><subject>kyphotic femur</subject><subject>Medical sciences</subject><subject>nail deficiency</subject><subject>Nails, Malformed</subject><subject>Pubic Bone - abnormalities</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtv1DAUhS0EKtPCmhWSF4gVaf2IH6GrqqIDdIBNEeysG9uZ8ZDExU40nX_PTDNqxaorWz7fOffKB6E3lJxSQtgZrLvlKeWMlJQwop-hGSWVLLRk-jmaEVrqQrGqeomOc14TQncP7AgdUaWFZNUMra_GVeqg73He9i7FzuPY4BSWq6GAftl6XMeNd7jxXUzwAUOdfW_voSbUYwseQ--wC8swQLu7xw7a4PNHfLOJuBnTsPIJW8g-v0IvGmizf304T9DPq083l5-LxY_5l8uLRWG5ULqopHKlldoJUtlSAfDKWUdl41jdcCaVtkBLrjQQKzQrQUtRUlpLp3jJheQn6P2Ue5vi39HnwXQhW9-20Ps4ZqOYFFRw9iRIJVGU3SeeTaBNMefkG3ObQgdpaygx-xrMvgbzWMPO8fYQPdadd4_89O87_d1Bh2yhbRL0NuQHTNCSVXqPnU_YJrR--9RUc_H12_y_JYrJHfLg7x7ckP4YqbgS5tf3ubn-vbhWilAj-T-FV6-n</recordid><startdate>19911101</startdate><enddate>19911101</enddate><creator>Lipson, Anthony H.</creator><creator>Kozlowski, Kazimierz</creator><creator>Barylak, Antoni</creator><creator>Marsden, William</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19911101</creationdate><title>Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: Two further cases</title><author>Lipson, Anthony H. ; 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| ispartof | American journal of medical genetics, 1991-11, Vol.41 (2), p.176-179 |
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| language | eng |
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| subjects | Abnormalities, Multiple - genetics autosomal recessive Biological and medical sciences Consanguinity Diseases of the osteoarticular system Female Femur - abnormalities Fibula - abnormalities fibula deficiency Foot Deformities, Congenital - genetics Genes, Recessive Hand Deformities, Congenital - genetics Humans Infant, Newborn inheritance Kidney - abnormalities kyphotic femur Medical sciences nail deficiency Nails, Malformed Pubic Bone - abnormalities |
| title | Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: Two further cases |
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