Kagami-Ogata Syndrome: Case Series and Review of Literature.
Kagami-Ogata Syndrome: Case Series and Review of Literature.
复制标题
DOI：
10.1055/s-0041-1727287
复制
发表时间：
2021-03
期刊：
影响因子：
0.9
通讯作者：
Talati AJ
中科院分区：
文献类型：
--
作者：
Sakaria RP;Mostafavi R;Miller S;Ward JC;Pivnick EK;Talati AJ
Kagami-Ogata 综合征 (KOS) (OMIM #608149) 是一种影响 14 号染色体的遗传印记疾病，导致特征性表型，包括典型的面部特征、骨骼异常（包括被描述为“衣架肋骨”的肋骨异常）、呼吸窘迫、腹壁缺陷、羊水过多和发育迟缓。 Wang等人于1991年首次发现KOS，文献报道了80多例KOS病例。然而，KOS 仍然是一种罕见且可能未被充分诊断的疾病。在本报告中，我们描述了两名没有血缘关系的男婴，他们的初始表现不同，在胸部 X 光检查中均发现具有特征性的“衣架”肋骨外观，这引起了 KOS 的怀疑。分子测试证实了每个病例的 KOS。除了这些新病例之外，我们还回顾了文献中报道的现有病例。羊水过多、胸廓小、肋骨弯曲和腹壁缺陷的存在必须提醒围产期专家注意 KOS 的可能性，以便于进行适当的分子检测。 KOS 的总体预后仍然较差。早期诊断可以让多学科团队提供咨询，并使父母能够就妊娠管理和产后护理做出明智的决定。
Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.
登录
查看更多内容
DOI：
10.1038/ejhg.2012.26
发表时间：
2012-09
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
通讯作者：
--
影响因子：
2
作者：
Mattes, Joerg;Whitehead, Bruce;Edwards, Matthew
通讯作者：
Edwards, Matthew
影响因子：
3
作者：
McGowan, KD;Weiser, JJ;Shaffer, LG
通讯作者：
Shaffer, LG
DOI：
10.1038/ejhg.2015.13
发表时间：
2015-11
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Kagami M;Kurosawa K;Miyazaki O;Ishino F;Matsuoka K;Ogata T
通讯作者：
Ogata T
影响因子：
2
作者：
Chu, C;Schwartz, S;McPherson, E
通讯作者：
McPherson, E