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VACTERL 协会:一例伴生物素酶缺乏和环状胰腺的新病例。

VACTERL association: a new case with biotinidase deficiency and annular pancreas.

机构信息

Department of Pediatrics, Zeynep Kamil Maternity and Childrens' Diseases Training and Research State Hospital, Uskudar, Istanbul, Turkey.

出版信息

Ren Fail. 2012;34(1):123-5. doi: 10.3109/0886022X.2011.623491. Epub 2011 Oct 20.

Abstract

VACTERL (V - Vertebral anomalies, A - Anal atresia, C - Cardiovascular anomalies, T - Tracheoesophageal fistula, E - Esophageal atresia, R - Renal (Kidney) and/or radial anomalies, L - Limb defects) association includes vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal dysplasia, and limb anomalies. Less frequent defects seen with VACTERL association are prenatal and postnatal growth deficiency, laryngeal stenosis, ear anomaly, large fontanels, defect of lower limb, rib anomaly, tethered cord, and defects of external genitalia. We report a case of VACTERL association who had concomitant biotinidase deficiency and annular pancreas, which has not been previously reported.

摘要

VACTERL(V-椎体异常,A-肛门闭锁,C-心血管异常,T-气管食管瘘,E-食管闭锁,R-肾脏(肾脏)和/或桡侧异常,L-肢体缺陷)联合征包括椎体缺陷、肛门闭锁、心脏缺陷、气管食管瘘、肾脏发育不良和肢体异常。VACTERL 联合征中较少见的缺陷有产前和产后生长发育不良、喉狭窄、耳部畸形、囟门大、下肢缺陷、肋骨畸形、脊髓栓系和外生殖器缺陷。我们报告了一例 VACTERL 联合征患者,同时患有生物素酶缺乏症和环状胰腺,这在以前的报告中尚未报道过。

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