Associated malformations in patients with anorectal anomalies
Associated malformations in patients with anorectal anomalies
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DOI：
10.1016/j.ejmg.2007.04.002
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发表时间：
2007-07-01
影响因子：
1.9
通讯作者：
Roth, M. P.
中科院分区：
文献类型：
--
作者：
Stoll, C.;Alembik, Y.;Roth, M. P.
先天性肛门直肠畸形(ARM)患者通常有其他相关的先天性缺陷。报告的发病率和相关畸形的类型在不同的研究中有所不同。这项调查的目的是评估1979年至2003年间收集的334,262例连续出生的ARM患者的出生时相关畸形的患病率。在研究期间的174名ARM患者中，49.4%的患者有合并畸形。合并畸形的患者进一步分为以下几组：非综合征型多发性先天畸形；染色体异常；非染色体综合征包括Townes-Brocks、Walker-Warburg、Ivemark、胎儿酒精、Klippel-Feil、Pallister-Hall、面-耳椎谱22q11.2缺失；序列包括OEIS、Pierre Robin和Sirenomelia；关联包括Vater和MURCS。泌尿生殖系统畸形(81.1%)和骨骼系统畸形(45.5%)是多发畸形患者中最常见的先天性手臂畸形，其次是心血管系统、消化系统和中枢神经系统的畸形。患有手臂和多发性相关畸形的儿童的体重、长度和头围都低于对照组，胎盘的重量也是如此。胎儿超声检查的产前检查很少在孤立的手臂上进行。然而，即使在多个合并畸形中，胎儿超声检查产前检测的敏感性也很低，仅为36%。总而言之，在两名婴儿中，畸形的总体患病率接近I，强调了对ARM患者进行彻底调查的必要性。ARM患者可能会考虑进行常规的其他畸形筛查，在这些复杂的病例中，遗传咨询似乎是必要的。(C)2007年，爱思唯尔·马森公司出版。
Patients with congenital anorectal malformations (ARM) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalences at birth of associated malformations in patients of a geographically defined population with ARM which were collected between 1979 and 2003 in 334, 262 consecutive births. Of the 174 patients with ARM during the study period, 49.4% had associated malformations. Patients with associated malformations were further classified into groups with nonsyndromic multiple con-Genital anomalies; chromosomal abnormalities; nonchromosomal syndromes including Townes-Brocks, Walker-Warburg, Ivemark, Fetal alcohol, Klippel-Feil, Pallister-Hall, Facio-auriculo-vertebral spectrum, deletion 22q11.2; sequences, including OEIS, Pierre Robin and sirenomelia; and associations including VATER and MURCS. Malformations of the urogenital system (81.1 %) and of the skeletal system (45.5%) were the most common other congenital anomalies occurring with ARM in multiply malformed patients without recognized entities, followed by malformations of the cardiovascular system, the digestive system, and the central nervous system. Weight, length, and head circumference of children with ARM and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal detection by fetal ultrasonographic examination was rarely made in isolated ARM. However, even in multiple associated malformations, prenatal detection by fetal ultrasonographic examination had a low sensitivity, 36%. In conclusion the overall prevalence of malformations, which was close to I in two infants, emphasizes the need for a thorough investigation of patients with ARM. A routine screening for other malformations may be considered in patients with ARM, and genetic counseling seems warranted in most of these complicated cases. (c) 2007 Published by Elsevier Masson SAS.