Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Am J Med Genet A. 2010 Feb;152A(2):504-11. doi: 10.1002/ajmg.a.33226.
OEIS complex (Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spine abnormalities) is a rare defect with estimated incidence of 1 in 200,000 live births. Most cases are sporadic, with no obvious cause. However, it has been rarely reported in patients with family members having similar malformations or with chromosomal anomalies. In addition, OEIS complex has been observed in association with environmental exposures, twinning, and in vitro fertilization. Monosomy 1p36 is the most common terminal deletion syndrome, with a prevalence of 1 in 5,000 newborns. It is characterized by specific facial features, developmental delay, and heart, skeletal, genitourinary, and neurological defects. We describe an infant with OEIS complex and 1p36 deletion who had features of both disorders, including omphalocele, cloacal exstrophy, imperforate anus, sacral multiple segmentation, renal malposition and malrotation, genital anomalies, diastasis of the symphysis pubis, microbrachycephaly, large anterior fontanel, cardiac septal defects, rib fusion, a limb deformity, developmental delay, and typical facial features. Chromosomal microarray analysis detected a 2.4 Mb terminal deletion of chromosome 1p. This is the first reported case with OEIS complex in association with a chromosome 1p36 deletion.
OEIS 复合体（脐膨出、泄殖腔外翻、肛门闭锁和脊柱异常）是一种罕见的缺陷，估计发病率为每 20 万活产儿中有 1 例。大多数病例是散发性的，没有明显的原因。然而，它在具有类似畸形或染色体异常的家庭成员的患者中很少被报道。此外，OEIS 复合体与环境暴露、双胞胎和体外受精有关。单体 1p36 是最常见的末端缺失综合征，每 5000 名新生儿中就有 1 例。其特征为特定的面部特征、发育迟缓以及心脏、骨骼、泌尿生殖和神经系统缺陷。我们描述了一例患有 OEIS 复合体和 1p36 缺失的婴儿，该婴儿同时具有这两种疾病的特征，包括脐膨出、泄殖腔外翻、肛门闭锁、骶骨多发性节段性、肾脏位置和旋转异常、生殖器异常、耻骨联合分离、头小畸形、大前囟、心脏间隔缺损、肋骨融合、肢体畸形、发育迟缓以及典型的面部特征。染色体微阵列分析检测到染色体 1p 的 2.4Mb 末端缺失。这是首例与 1p36 染色体缺失相关的 OEIS 复合体病例。
