Literature DB >> 8267929

Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?

J Antich1, M Iriondo, I Lizarraga, R Manzanares, V Cusi.   

Abstract

We report a newborn with radiohumeral synostosis, femoral bowing, anal atresia, a prominent nose (pear shaped nose), slender ribs, long tapering fingers with distal camptodactyly, genital hypoplasia and a neonatal humeral fracture. Among the possible differential diagnoses a variant example of Antley-Bixler syndrome is considered to be the most likely final diagnosis.

Entities:  

Mesh:

Year:  1993        PMID: 8267929

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

Review 1.  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

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.