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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Terapêutica
/
Fluconazol
/
Sistema Enzimático do Citocromo P-450
/
Diagnóstico
/
Diagnóstico Diferencial
/
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos
/
Fenótipo de Síndrome de Antley-Bixler
/
Feto
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Animais
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
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