PDF(Pubmed)
Abstract：
A female infant, born at 37 week 5 days to a mother via induced vaginal delivery for preeclampsia, was prenatally diagnosed with a right aortic arch with vascular ring. On the third day of life, the infant exhibited a bronze-gray coloration, and a direct bilirubin of 1.7 mg/dL was detected. The abdominal ultrasound did not visualize the gallbladder. Clinically, the infant displayed features consistent with Alagille syndrome, including unusual facial appearance, butterfly vertebrae, cardiovascular defects, and cholestasis. The geneticist noted that the mother of the patient also exhibited similar features. Both the infant and the mother were diagnosed with Alagille syndrome, both having the same heterozygous JAG1 gene (NM_000214.2) variant (c.1890_1893del, p.Ile630Metfs*112). We believe that the vascular ring observed in our patient is the first reported instance of a vascular ring associated with Alagille syndrome.
摘要：
一个女婴，出生在37周5天的母亲通过诱导阴道分娩先兆子痫，产前诊断为右主动脉弓有血管环。生命的第三天，婴儿表现出青铜色的灰色，检测到直接胆红素为1.7mg/dL。腹部超声无法显示胆囊。临床上,婴儿表现出与Alagille综合征一致的特征，包括不寻常的面部外观，蝴蝶椎骨，心血管缺陷,和胆汁淤积。遗传学家指出，患者的母亲也表现出类似的特征。婴儿和母亲都被诊断出患有Alagille综合征，两者都具有相同的杂合JAG1基因(NM_000214.2)变体(c.1890_1893del，p.Ile630Metfs*112)。我们认为，在我们的患者中观察到的血管环是与Alagille综合征相关的血管环的首次报道实例。
