Literature DB >> 7309536

Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities. Clinical and radiological findings.

U Burck, T Riebel, K R Held, M Stoeckenius.   

Abstract

Two girls afflicted with bilateral femoral hypoplasia, micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities are reported. Based on 10 cases reported in the literature the following points are emphasized: 1. Femoral hypoplasia may be bilateral or unilateral. 2. Many patients show asymmetrical changes. 3. To our knowledge, the complete syndrome including a cleft palate has been reported only in females. 4. Femoral hypoplasia without a cleft palate may represent a different entity, of possibly autosomal dominant inheritance, or may occur in children of diabetic mothers.

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Year:  1981        PMID: 7309536

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  1 in total

1.  The femoral hypoplasia-unusual facies syndrome.

Authors:  J Burn; R M Winter; M Baraitser; C M Hall; J Fixsen
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

  1 in total

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