Spondylothoracic Dysplasia: Prenatal Diagnosis and the Problems of Nosologic Overlap

Shubha-R. Phadke; Siddramappa-J. Patil; Niraj Kumari; Narendra Krishnani

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Spondylothoracic Dysplasia: Prenatal Diagnosis and the Problems of Nosologic Overlap

机译：脊髓腰椎发育不良：产前诊断和疾病学重叠的问题

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Here, we report on two siblings with a phenotype resembling the mild form of spondylothoracic dysplasia. The second sibling was diagnosed pre-natally. A 372-year-old girl, of nonconsanguineous parents, was found to have disproportionate short stature, broad thorax (Fig. 1), chest deformity, and thoracolumbar scoliosis. Height was 83 cm (<-3 SD); weight and head circumference were within normal limits. A radiograph of spine and thorax showed crowding of ribs near the spine in the lower portion of the rib cage.

机译：在这里，我们报告了两个兄弟姐妹，其表型类似于脊柱胸腰椎发育不良的轻度形式。第二个兄弟姐妹在产前被诊断出。一位372岁无父母血统的女孩，身材矮小，胸部宽（图1），胸部畸形，胸腰椎侧弯。身高为83厘米（<-3 SD）;体重和头围均在正常范围内。脊柱和胸部的X射线照片显示，肋骨笼下部的脊柱附近肋骨拥挤。

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《American journal of medical genetics, Part A》 |2007年第8期|共4页
作者
Shubha-R. Phadke; Siddramappa-J. Patil; Niraj Kumari; Narendra Krishnani;
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正文语种 eng
中图分类医学遗传学;
关键词
Dysplasia; NOS; Thorax; Vertebral column; Prenatal Diagnosis; Fig; 胸; 产前诊断;

机译：Dysplasia;NOS;Thorax;Vertebral column;Prenatal Diagnosis;Fig;胸;产前诊断;

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1. Spondylothoracic Dysplasia: Prenatal Diagnosis and the Problems of Nosologic Overlap [J] . Shubha-R. Phadke, Siddramappa-J. Patil, Niraj Kumari, American journal of medical genetics, Part A . 2007,第8期

机译：脊髓腰椎发育不良：产前诊断和疾病学重叠的问题
2. Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia [J] . Chen Chih-Ping, Chang Tung-Yao, Lin Tan-Wei, Taiwanese journal of obstetrics and gynecology . 2018,第1期

机译：具有胎儿的水肿骨髓诊断和大肠杆菌和CISTerna Magna的特异性发育不良患者II型，以及与同种异常相关联的脑异常的产前诊断述评
3. Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene. [J] . Trujillo Tiebas MJ, Fenollar Cortes M, Lorda Sanchez Journal of assisted reproduction and genetics . 2009,第8期

机译：FGFR3基因突变引起的骨骼发育异常的产前诊断：9年的经验：FGFR3基因的产前诊断。
4. Multi-view Learning with Feature Level Fusion for Cervical Dysplasia Diagnosis [C] . Tingting Chen, Xinjun Ma, Xuechen Liu, International Conference on Medical Image Computing and Computer-Assisted Intervention . 2019

机译：具有功能水平融合的多视图学习对宫颈发育不良的诊断
5. An Exploration of the Genetic Counselor-Patient Relationship Following a Life-limiting Prenatal Diagnosis [D] . Anderson, Sabrina 2015

机译：生命有限的产前诊断后遗传咨询师-患者关系的探索
6. Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings Clinical Course Differential Diagnosis and Review [O] . Sofía Catena, Mariana Aracena, Óscar Pizarro, 2017

机译：与Toriello-Carey面部表型重叠的6q的近端删除：产前发现临床过程鉴别诊断和审查。
7. Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene [O] . Trujillo-Tiebas, M. J., Fenollar-Cortés, M., Lorda-Sánchez, I., 2009

机译：FGFR3基因突变引起的骨骼发育异常的产前诊断：9年的经验：FGFR3基因的产前诊断

Spondylothoracic Dysplasia: Prenatal Diagnosis and the Problems of Nosologic Overlap

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