Clinical challenges in the management of a prenatally diagnosed cloacal malformation [0.03%]
产前诊断泄殖腔畸形的治疗挑战
Mehtap Khuja,Aria Nouri,Jan Wilczyński et al.
Mehtap Khuja et al.
Cloacal dysgenesis sequence is a severe malformation of the primitive cloaca and is characterized by a phallus-like structure, smooth perineum and the absence of genitourinary and anal orifices. It is usually accompanied by oligohydramnios,...
OHVIRA syndrome: rare cause of chronic vaginal discharge in an unmarried female [0.03%]
OHVIRA综合征：未婚女性慢性阴道分泌物的罕见原因
Aruna Nigam,Chitra Raghunandan,Reena Yadav et al.
Aruna Nigam et al.
Chronic vaginal discharge in adolescent and young females, not responding to antibiotics, can pose a diagnostic dilemma for many gynecologists and general practitioners. Uterus didelphys with obstructed hemivagina and ipsilateral renal agen...
Rare clinical entity Perlman syndrome: is cholestasis a new finding? [0.03%]
Perlman综合征罕见临床病例：胆汁郁积是新的发现吗？
Gamze Demirel,Serife S Oguz,Istemi H Celik et al.
Gamze Demirel et al.
Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor. Here we report on a newborn with a prenatal history of polyhydr...
Formal genesis of the outflow tracts of the heart revisited: previous works in the light of recent observations [0.03%]
心脏流出道的发生再探讨：最近的观察对以往研究的启示
Naomasa Okamoto,Naotaka Akimoto,Nobuto Hidaka et al.
Naomasa Okamoto et al.
The formal genesis of the great arteries continues to be controversial due to the lack of consensus of septation of the developing outflow tract. In order to make it clear how the great arteries are generated, we have re-examined our previo...
Relationship between growth retardation and impaired glucose tolerance in hypothyroidal growth-retarded (grt) mice [0.03%]
甲状腺功能减退生长迟缓小鼠的生长障碍与糖耐量异常之间的关系
Yoshie Tasaki,Yusuke Taguchi,Takeo Machida et al.
Yoshie Tasaki et al.
Growth-retarded (grt) mice exhibit congenital hypothyroidism and a characteristic growth pause followed by delayed onset of pubertal growth. This pattern of growth has never been reported in any other animal model exhibiting hypothyroidism;...
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome [0.03%]
伴有眼前极和左心发育不全的严重Peters-plus综合征表型：一个新的综合症提案
Reiko Shimizu,Ryota Saito,Kenji Hoshino et al.
Reiko Shimizu et al.
Peters Plus syndrome is a very rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor anomalies. Mutations in the B3GALTL gene encoding beta 1,3-glucosyltransferase have ...
Isolation of the left subclavian artery from the pulmonary artery in a patient with CHARGE association [0.03%]
卡瑞奇综合症患者的左椎动脉与肺动脉隔离术
Anneke P Bech,Jeroen op den Akker,Pieter R Matthijsse
Anneke P Bech
A male infant diagnosed with CHARGE association presented with respiratory insufficiency and a cardiac murmur. Diagnostic evaluation showed a right sided aortic arch with an isolation of the left subclavian artery arising from the pulmonary...
Analysis of the harmonized growth pattern of fetal organs by multidimensional scaling and hierarchical clustering [0.03%]
应用多维尺度分析及层次聚类研究胎儿器官同步生长规律
Jun Udagawa,Akira Yasuda,Kanta Naito et al.
Jun Udagawa et al.
The development of an organ may be affected by various growth and differentiation factors released from other organs. These factors are believed to have important effects on the development of multiple organs. To detect and analyze harmoniz...
Difficult pacemaker implantation. Detection of a wrong course due to sinus venosus type atrial septal defect [0.03%]
起搏器植入困难一上腔型房间隔缺损导致导线误入冠状窦的病例报告
Habib Saadat,Sepideh Emami,Mohammad Hassan Namazi et al.
Habib Saadat et al.
Cerebro-costo-mandibular syndrome: prognosis and proposal for classification [0.03%]
cerebro costo mandibular 综合征的预后及分类建议
Hiroyuki Nagasawa,Yutaka Yamamoto,Yoshinori Kohno
Hiroyuki Nagasawa
Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with th...