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Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases.
Am J Med Genet. 1991 Nov 01; 41(2):176-9.AJ

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.

Authors+Show Affiliations

Genetics and Dysmorphology Unit, Children's Hospital, Camperdown, Sydney, New South Wales, Australia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

1785629

Citation

Lipson, A H., et al. "Fuhrmann Syndrome of Right-angle Bowed Femora, Absence of Fibulae and Digital Anomalies: Two Further Cases." American Journal of Medical Genetics, vol. 41, no. 2, 1991, pp. 176-9.
Lipson AH, Kozlowski K, Barylak A, et al. Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. Am J Med Genet. 1991;41(2):176-9.
Lipson, A. H., Kozlowski, K., Barylak, A., & Marsden, W. (1991). Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. American Journal of Medical Genetics, 41(2), 176-9.
Lipson AH, et al. 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. PubMed PMID: 1785629.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. AU - Lipson,A H, AU - Kozlowski,K, AU - Barylak,A, AU - Marsden,W, PY - 1991/11/1/pubmed PY - 1991/11/1/medline PY - 1991/11/1/entrez SP - 176 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 41 IS - 2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1785629/Fuhrmann_syndrome_of_right_angle_bowed_femora_absence_of_fibulae_and_digital_anomalies:_two_further_cases_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=41&issue=2&spage=176 DB - PRIME DP - Unbound Medicine ER -