Literature DB >> 11832641

The Antley-Bixler syndrome: two new cases.

H S Hosalkar1, H S Shah, P S Gujar, B A Shaw.   

Abstract

The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.

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Year:  2001        PMID: 11832641

Source DB:  PubMed          Journal:  J Postgrad Med        ISSN: 0022-3859            Impact factor:   1.476


  2 in total

Review 1.  Choanal Atresia and Craniosynostosis: Development and Disease.

Authors:  Kate M Lesciotto; Yann Heuzé; Ethylin Wang Jabs; Joseph M Bernstein; Joan T Richtsmeier
Journal:  Plast Reconstr Surg       Date:  2018-01       Impact factor: 4.730

2.  Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.

Authors:  Haibo Li; Aman Zhao; Min Xie; Linqi Chen; Haiying Wu; Yiping Shen; Hongying Wang
Journal:  Transl Pediatr       Date:  2021-12
  2 in total

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