ANTLEY BIXLER SYNDROME PDF

A number sign (#) is used with this entry because of evidence that Antley-Bixler syndrome with disordered steroidogenesis (ABS1) is caused by homozygous or. Antley–Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Antley-Bixler syndrome and where to get help.

Author: Akinole Zuluzragore
Country: Luxembourg
Language: English (Spanish)
Genre: Photos
Published (Last): 2 November 2016
Pages: 164
PDF File Size: 18.17 Mb
ePub File Size: 4.44 Mb
ISBN: 764-3-90834-928-1
Downloads: 92309
Price: Free* [*Free Regsitration Required]
Uploader: Bralkree

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Antley-Bixler syndrome anley a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Children present with characteristic facial features, including a large domed forehead, flat nose, and midface hypoplasia with proptosis and dysplastic ears. A diverse range of malformations cardiac, anal or vertebral are often associated. Urogenital anomalies with sexual ambiguity due to impaired steroidogenesis can occur.

  BRASSOLIS SOPHORAE PDF

Antley Bixler Syndrome – NORD (National Organization for Rare Disorders)

Intellectual development is variable. Two genetically distinct forms are observed: Type 2 Antley-Bixler can thus be accompanied by sexual ambiguity, but this is not a compulsory finding.

A similar clinical picture is observed in patients exposed in utero to fluconazole, a lanosterol 14 alpha-demethylase inhibitor. The prognosis is poor with the majority of reported patients dying during infancy due to respiratory complications.

Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Summary Epidemiology It has been described in more than 30 patients. Clinical description Children present with characteristic facial features, including a large domed forehead, flat nose, and midface hypoplasia with proptosis and dysplastic ears.

Etiology Two genetically distinct forms are observed: Differential diagnosis A similar clinical picture is observed in patients exposed in utero to fluconazole, a lanosterol 14 alpha-demethylase inhibitor. Genetic counseling Transmission is autosomal recessive. Management and treatment Treatment is symptomatic, and includes early neurosurgical as well as pulmonary management.

  DEL BISONTE A LA REALIDAD VIRTUAL ROMAN GUBERN PDF

Prognosis The prognosis is poor with the syndroje of reported patients dying during infancy due to respiratory complications. Detailed information Professionals Clinical genetics review English Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 3.

Rare Disease Database

Health care resources for this disease Expert centres Diagnostic tests 59 Patient organisations 29 Orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information antle only.

The material is in no way intended to replace professional medical care by a qualified anley and should not be used as a basis for diagnosis or treatment.

Back to top