Advance in clinical research on Antley-Bixler syndrome.
10.3760/cma.j.issn.1003-9406.2018.02.031
- Author:
Min XIE
1
;
Hongying WANG
;
Linqi CHEN
;
Haibo LI
;
Hong LI
Author Information
1. Center of Reproductive Medicine and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu 215002, China. hongliszivf@163.com.
- Publication Type:Journal Article
- MeSH:
Animals;
Antley-Bixler Syndrome Phenotype;
diagnosis;
etiology;
genetics;
therapy;
Cytochrome P-450 Enzyme System;
genetics;
Diagnosis, Differential;
Fetus;
drug effects;
Fluconazole;
adverse effects;
Humans;
Receptor, Fibroblast Growth Factor, Type 2;
genetics
- From:
Chinese Journal of Medical Genetics
2018;35(2):280-283
- CountryChina
- Language:Chinese
-
Abstract:
Antley-Bixler syndrome (ABS) is a rare childhood disorder affecting skeletal development. Some patients may also have genital anomalies and impaired steroidogenesis. Diagnostic criteria for ABS has not been fully established, though craniosynostosis, midface hypoplasia and elbow synostosis are minimum requirements. The etiology of ABS is complex, which included autosomal dominant form caused by FGFR2 gene mutations, autosomal recessive form caused by POR gene mutations, and high oral dose of fluconazole during pregnancy. Patients may die from dyspnea due to upper respiratory tract obstruction. This review summarizes research progress on the clinical features, etiology, differential diagnosis, treatment and prevention of ABS.
