Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

Weaver KN; Rutledge KD; Grant JH; Robin NH

首页> 外文期刊>American journal of medical genetics, Part A >Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

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Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

机译：肛门无孔是睑球牙髓综合征中罕见的相关发现。

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Blepharocheilodontic (BCD) syndrome is a rare autosomal-dominant condition that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. It exhibits considerable phenotypic variability among affected individuals. An additional rare associated manifestation is imperforate a.u. (IA), which has been reported in three cases [Guyuron et al. (1995); J Craniofac Surg 6:392-394; Gorlin et al. (1996); Am J Med Genet 65:109-112; da Silva Lopes et al. (2003); Am J Med Genet Part A 121A:266-270]. Here we report on a family with BCD that includes IA, confirming that anorectal anomalies are a part of BCD syndrome.

机译：睑缘牙髓病（BCD）综合征是一种罕见的常染色体显性疾病，其特征是下眼睑外翻，上眼睑disdisasiasi，euryblepharon，双侧唇left裂和圆锥形牙齿。在受影响的个体中它表现出相当大的表型变异性。另一个罕见的相关表现是无孔a.u。（IA），已在三起案例中进行了报道[Guyuron等。（1995）; J Craniofac Surg 6：392-394;戈林等。（1996）;美国医学遗传杂志65：109-112; da Silva Lopes等。（2003）;美国医学遗传学杂志A部分121A：266-270]。在这里，我们报道了一个包含IA的BCD家族，证实了肛门直肠异常是BCD综合征的一部分。

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《American journal of medical genetics, Part A》 |2010年第2期|共3页
作者
Weaver KN; Rutledge KD; Grant JH; Robin NH;
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1. Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. [J] . Weaver KN, Rutledge KD, Grant JH, American journal of medical genetics, Part A . 2010,第2期

机译：肛门无孔是睑球牙髓综合征中罕见的相关发现。
2. PALLISTER-HALL SYNDROME. RARE FINDINGS: A PATIENT WITH TOTAL COLONIC AGANGLIONOSIS AND IMPERFORATE ANUS, ANOTHER PATIENT WITH METOPIC SUTURE FUSION [J] . Reynoso F. J., Li M., Zackai E. H., American journal of medical genetics, Part A . 2015,第8期

机译：帕勒斯特霍尔综合征。罕见的发现：患有总的结肠粗大化和肛门不全的患者，另一例具有网状缝合的患者
3. A Rare Case of Genital Malformationwith Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal DefectComplex-Autopsy Findings ED37-ED38 [J] . K. Mamatha, B. R. Yelikar, Varsha R. Deshpande, Journal of Clinical and Diagnostic Research . 2017,第7期

机译：少见的生殖器畸形伴脐部膨出，膀胱营养不良，肛门无孔和脊柱畸形的复杂病例尸检结果ED37-ED38
4. Finding Minimal Rare Itemsets and Rare Association Rules [C] . Laszlo Szathmary, Petko Valtchev, Amedeo Napoli Knowledge science, engineering and management . 2010

机译：查找最小的稀有物品集和稀有关联规则
5. Functional analyses of rare variants associated with Tourette syndrome. [D] . Stillman, Althea A. 2009

机译：与Tourette综合征相关的罕见变异的功能分析。
6. A Rare Case of Genital Malformation with Omphalocele Exstrophy of Bladder Imperforate Anus and Spinal Defect Complex-Autopsy Findings [O] . K. Mamatha, B. R. Yelikar, Varsha R. Deshpande, 2017

机译：少见的生殖器畸形伴脐部膨出膀胱营养不良肛门无孔以及脊柱缺损的复杂尸检结果
7. A Rare Case of Hyponatremia Caused by Reset Osmostat in a Neonate with Cleft Lip, Cleft Palate, and Imperforate Anus [O] . Jung Gu Ahn, Jeong Eun Lee, Woo Yeong Chung, 2018

机译：一种罕见的低钠血症造成的低钠血症，由唇裂，裂隙腭裂和无孔肛门

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

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