CHARGE综合征与甲状腺功能减退症
The CHARGE association and athyreosis.
作者信息
Marín J F, García B, Quintana A, Barrio R, Sordo M T, Lozano C
机构信息
Department of Paediatric Endocrinology, Hospital Ramón y Cajal, Madrid, Spain.
出版信息
J Med Genet. 1991 Mar;28(3):207-8. doi: 10.1136/jmg.28.3.207.
Abstract
We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). The coexistence of these two disorders has not been described previously.
摘要
我们报告了一名患有先天性甲状腺功能减退症的男婴，其病因是无甲状腺症，并伴有CHARGE综合征（双侧乳头缺损、先天性心脏病、耳部畸形、感音神经性耳聋、精神运动发育迟缓、隐睾症、面神经麻痹和膀胱输尿管反流）。此前尚未有这两种疾病并存的描述。
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本文引用的文献
1
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.缺损、先天性心脏病和后鼻孔闭锁合并多种异常：CHARGE综合征。
J Pediatr. 1981 Aug;99(2):223-7. doi: 10.1016/s0022-3476(81)80454-4.
2
A reappraisal of the CHARGE association.对CHARGE综合征的重新评估。
J Med Genet. 1988 Mar;25(3):147-56. doi: 10.1136/jmg.25.3.147.
3
Anatomic findings and management of choanal atresia and the CHARGE association.后鼻孔闭锁及CHARGE综合征的解剖学发现与处理
Ann Otol Rhinol Laryngol. 1988 Sep-Oct;97(5 Pt 1):448-53. doi: 10.1177/000348948809700503.
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The CHARGE association: choanal atresia and multiple congenital anomalies.CHARGE综合征：后鼻孔闭锁与多种先天性异常
Otolaryngol Clin North Am. 1989 Jun;22(3):661-72.
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The pattern of cardiovascular malformation in the CHARGE association.CHARGE综合征中的心血管畸形模式。
Am J Dis Child. 1987 Sep;141(9):1010-3. doi: 10.1001/archpedi.1987.04460090087034.
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Who's in CHARGE? Multidisciplinary management of patients with CHARGE association.谁负责？CHARGE综合征患者的多学科管理。
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