Advance in clinical research on Antley-Bixler syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 280-283, 2018.
Article
Dans Chinois
| WPRIM
| ID: wpr-687959
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Thérapeutique
/
Fluconazole
/
Cytochrome P-450 enzyme system
/
Diagnostic
/
Diagnostic différentiel
/
Récepteur FGFR2
/
Phénotype du syndrome d'Antley-Bixler
/
Foetus
/
Génétique
Type d'étude:
Etude diagnostique
Limites du sujet:
Animaux
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2018
Type:
Article
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