Prenatal diagnosis of Kagami-Ogata syndrome

Molinet Coll Cristina; Sabria Bach Joan; Izquierdo Renau Montserrat; Alarcon Allen Ana; Monk David; Gomez del Rincon Olga; Mila Recasens Montserrat; Martinez Crespo Josep Maria

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Prenatal diagnosis of Kagami-Ogata syndrome

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摘要

Kagami-Ogata syndrome (KOS14) is a rare congenital disorder associated with defective genomic imprinting of the chromosome 14q32 domain. Typical features include polyhydramnios, small and bell-shaped thorax, coat-hanger ribs, dysmorphic facial features, abdominal wall defects, placentomegaly, severe postnatal respiratory distress and intellectual disability. To the best of our knowledge, this may be the first case where ultrasound findings such as: severe polyhydramnios, a small bell-shaped thorax, a protuberant abdomen and characteristic dysmorphic face prompted directed family interrogation finally leading to the prenatal diagnosis of KOS14.

机译：Kagami-Ogata综合征（KOS14）是一种罕见的先天性疾病，与染色体14q32结构域的基因组印记缺陷有关。典型特征包括羊水过多、小而钟形的胸部、衣架肋骨、面部畸形、腹壁缺损、胎盘肥大、严重的产后呼吸窘迫和智力残疾。据我们所知，这可能是第一例超声检查发现严重羊水过多、小的钟形胸、突出的腹部和特征性的畸形脸，促使家庭进行直接询问，最终导致KOS14的产前诊断。

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来源
《Journal of Clinical Ultrasound: JCU》 |2021年第5期|共4页
作者
Molinet Coll Cristina; Sabria Bach Joan; Izquierdo Renau Montserrat; Alarcon Allen Ana; Monk David; Gomez del Rincon Olga; Mila Recasens Montserrat; Martinez Crespo Josep Maria;
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作者单位

Hosp Clin Barcelona Barcelona Ctr Maternal Fetal &

Neonatal Med BCNatal Barcelona Spain;

Hosp Clin Barcelona Barcelona Ctr Maternal Fetal &

Neonatal Med BCNatal Barcelona Spain;

Hosp Clin Barcelona Barcelona Ctr Maternal Fetal &

Neonatal Med BCNatal Barcelona Spain;

Hosp Clin Barcelona Barcelona Ctr Maternal Fetal &

Neonatal Med BCNatal Barcelona Spain;

Bellvitge Inst Biomed Res Imprinting &

Canc Grp Barcelona Spain;

Hosp Clin Barcelona Barcelona Ctr Maternal Fetal &

Neonatal Med BCNatal Barcelona Spain;

Hosp Clin Barcelona Dept Biochem &

Mol Genet Barcelona Spain;

Hosp Clin Barcelona Barcelona Ctr Maternal Fetal &

Neonatal Med BCNatal Barcelona Spain;

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原文格式 PDF
正文语种 eng
中图分类影像诊断学;
关键词
bellamp; 8208; shaped thorax; coatamp; 8208; hanger ribs; malformations; obstetrics; polyhydramnios; protruding philtrum;

机译：贝尔＆amp;8208;形状的胸部;外套＆amp;8208;机库肋骨;畸形;产科;Polyhydramnnios;突出的菲尔特;

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2. Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene [J] . Patra Yeetong1, Kanya Suphapeetiporn2, Vorasuk Shotelersuk3 世界儿科杂志(英文版) . 2017,第004期
3. Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing [J] . Xiao-Yan Hao, Chun-Na Fan, Yi-Hua He, 中华医学杂志（英文版） . 2016,第015期
4. Prenatal diagnosis of Down syndrome using cell-free fetal DNA in amniotic fluid by quantitative fluorescent polymersase chain reaction [J] . Wu Dan, Chi Hongbin, Shao Minjie, 中华医学杂志（英文版） . 2014,第010期
5. Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down’s syndrome [J] . KO Kou MRCOG FHKAM, Gynaecology, CF Poon, Hong Kong medical journal = . 2016,第3期

机译：无创产前检查作为一种有条件方法对唐氏综合症有创产前诊断适应症和产前检测率的影响
6. Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome [J] . Kou K. O., Poon C. F., Kwok S. L., Hong Kong medical journal =: Xianggang yi xue za zhi . 2016,第3期

机译：无创产前检查作为一种有条件方法对唐氏综合症有创产前诊断适应症和产前检测率的影响
7. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes [J] . Daniela CardosoPereira, Luiz Claudio SilvaBussamra, EdwardAraujo Júnior, Case Reports in Obstetrics and Gynecology . 2013,第1期

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8. Early Prenatal Diagnosis of Down's Syndrome-A Machine Learning Approach [C] . Esther Hannah, Lilly Raamesh, Sumathi International Conference on Soft Computing for Problem Solving . 2020

机译：早期产前诊断下降综合征 - 机器学习方法
9. Information and Resources Provided to Patients Receiving a Prenatal Diagnosis of Down Syndrome as Reported by Health Care Professionals [D] . King, Annette Marie 2012

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10. Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes [O] . Daniela Cardoso Pereira, Luiz Claudio Silva Bussamra, Edward Araujo Júnior, 2013

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11. Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome [O] . Kou KOT, Poon CF, Kwok SL, 2016

机译：非侵入性产前检查作为一种可能的方法对唐氏综合征的侵入性产前诊断和产前检出率的指征
12. Improved Prenatal Diagnosis of the Fragile X Mutation [R] . Jenkins, E. C., Brown, W. T., Dobkin, C. S., 2000

机译：改善脆性X突变的产前诊断

Prenatal diagnosis of Kagami-Ogata syndrome

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