Literature DB >> 1785629

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

A H Lipson1, K Kozlowski, A Barylak, W Marsden.   

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.

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Year:  1991        PMID: 1785629     DOI: 10.1002/ajmg.1320410208

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Overlap between Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly and Fuhrmann's Syndromes in an Egyptian Female Infant.

Authors:  Ebtesam M Abdalla; Ahmed A El-Beheiry
Journal:  J Pediatr Genet       Date:  2017-01-02

2.  Isolated femoral hypoplasia: an intrauterine differential diagnosis to campomelia.

Authors:  Friederike Körber; Eckard Schönau; A Eldad Horwitz; Gabriele Benz-Bohm
Journal:  Pediatr Radiol       Date:  2005-01-06

3.  FFU complex: an analysis of 491 cases.

Authors:  W Lenz; M Zygulska; J Horst
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132

  3 in total

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