Document Detail


Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature.
MedLine Citation:
PMID:  3041834     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The Antley-Bixler syndrome (ABS) is characterized by craniosynostosis, radiohumeral synostosis, and femoral bowing. Other findings include a trapezoid-shaped head, deformed ears, severe midface hypoplasia, choanal atresia or stenosis, and long bone fractures. Most ABS cases have died in the first months of life from respiratory complications. The poor prognosis in this condition makes counseling difficult and early termination of pregnancy a consideration. The medical and surgical management information presented here can be used as a guide for counseling parents in the future. We report on a new patient with ABS who now at age 3 yr, has been followed by the medical staff of Riley Children's Hospital since birth. She has had successful medical and surgical management. Although the multisynostoses seen in this disorder is undoubtedly related to the soft tissue malformations such as choanal stenosis and midface hypoplasia, the cause remains unknown. The literature is also reviewed in this condition.
Authors:
L F Escobar; D Bixler; M Sadove; M J Bull
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  29     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1988 Apr 
Date Detail:
Created Date:  1988-08-31     Completed Date:  1988-08-31     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  829-36     Citation Subset:  IM    
Affiliation:
Department of Oral Facial Genetics, Indiana University School of Dentistry and Medicine, Indianapolis.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Craniosynostoses / genetics*,  radiography
Extremities / radiography
Female
Humans
Infant, Newborn
Limb Deformities, Congenital*
Prognosis
Syndrome
Grant Support
ID/Acronym/Agency:
1 F32 DEO5456-01A1/DE/NIDCR NIH HHS; DE 7043/DE/NIDCR NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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