Literature DB >> 7097411

The Antley-Bixler syndrome.

L K Robinson, N G Powers, P Dunklee, S Sherman, K L Jones.   

Abstract

Three unrelated children (two girls and one boy) with the Antley-Bixler syndrome have been evaluated, bringing to five the number of patients reported with this disorder. All have had brachycephaly, midface hypoplasia, dysplastic ears, radiohumeral synostosis, and joint contractures. Craniosynostosis has been documented radiographically in four of the five patients. All five have had a severely shortened cranial base. Femoral bowing with neonatal fractures has been a variable feature. All have represented sporadic occurrences in otherwise normal families.

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Year:  1982        PMID: 7097411     DOI: 10.1016/s0022-3476(82)80117-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  5 in total

1.  The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.

Authors:  B P LeHeup; J P Masutti; P Droullé; J Tisserand
Journal:  Eur J Pediatr       Date:  1995-02       Impact factor: 3.183

2.  Antley-Bixler syndrome: description of two patients.

Authors:  E Bianchi; S Cordini; P Fiori; F Torcetta; G Beluffi
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

Review 3.  Antley-Bixler syndrome: report of a patient and review of literature.

Authors:  S Hassell; M G Butler
Journal:  Clin Genet       Date:  1994-11       Impact factor: 4.438

4.  Multisynostotic osteodysgenesis.

Authors:  R Herva; U Seppänen
Journal:  Pediatr Radiol       Date:  1985

Review 5.  Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.

Authors:  Saïd C Azoury; Sashank Reddy; Vivek Shukla; Chu-Xia Deng
Journal:  Int J Biol Sci       Date:  2017-11-02       Impact factor: 6.580

  5 in total

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