Antley-Bixler 综合征，伴有生殖器异常和类固醇生成紊乱
基因病名称(英)
Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis
基因病名称
Antley-Bixler 综合征，伴有生殖器异常和类固醇生成紊乱
别名(英)
Antley-Bixler syndrome-like phenotype with disordered steroidogenesis,Cytochrome P450 oxidoreductase deficiency,POR deficiency
别名
类固醇生成紊乱、细胞色素 P450 氧化还原酶缺乏、POR 缺乏的 Antley-Bixler 综合征样表型
统计
reviewed:1; annotated:0
交叉引用
201750,C1860042,C3150099,D054882
描述(英)
A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.
描述
一种以 Antley-Bixler 综合征与类固醇生成缺陷和异常生殖器相关的疾病为特征的疾病。Antley-Bixler 综合征的特征是颅缝早闭、围产期出现的桡肱骨缝早、中面发育不全、后鼻孔狭窄或闭锁、股骨弯曲和多发性关节挛缩。