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Genetics and congenital disorders

This section considers studies of genetic and congenital disorders in children and adolescents.

Page 1 of 4

  1. Early distinguishing biliary atresia from other causes of infantile cholestasis remains a major challenge. We aimed to develop and validate a scoring system based on bile acid for identification of biliary atr...

    Authors: Dongying Zhao, Kejun Zhou, Yan Chen, Wei Xie and Yongjun Zhang

    Citation: BMC Pediatrics 2020 20:255

    Content type: Research article

    Published on:

  2. We evaluated the role of CYP3A5, ABCB1 and SXR gene polymorphisms in the occurrence of acute kidney rejection in a cohort of pediatric renal transplant recipients.

    Authors: Stefano Turolo, Alberto Edefonti, Luciana Ghio, Sara Testa, William Morello and Giovanni Montini

    Citation: BMC Pediatrics 2020 20:246

    Content type: Research article

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  3. Exome and genome sequencing are routinely used in clinical care and research. These technologies allow for the detection of pathogenic/likely pathogenic variants in clinically actionable genes. However, fueled...

    Authors: Juliann M. Savatt, Jennifer K. Wagner, Steven Joffe, Alanna Kulchak Rahm, Marc S. Williams, Angela R. Bradbury, F. Daniel Davis, Julie Hergenrather, Yirui Hu, Melissa A. Kelly, H. Lester Kirchner, Michelle N. Meyer, Jessica Mozersky, Sean M. O’Dell, Josie Pervola, Andrea Seeley…

    Citation: BMC Pediatrics 2020 20:222

    Content type: Study protocol

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  4. Lipin-1, encoded by LPIN1 gene, serves as an enzyme and a transcriptional co-regulator to regulate lipid metabolism and mitochondrial respiratory chain. Autosomal recessive mutations in LPIN1 were recognized as o...

    Authors: Ruochen Che, Chunli Wang, Bixia Zheng, Xuejuan Zhang, Guixia Ding, Fei Zhao, Zhanjun Jia, Aihua Zhang, Songming Huang and Quancheng Feng

    Citation: BMC Pediatrics 2020 20:218

    Content type: Case report

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  5. Vasovagal syncope (VVS) is common in children and significantly affects their quality of life. To our knowledge, this the first case report of SCN5A gene mutation associated with VVS and third-degree atriovent...

    Authors: Lu Gao, Xia Yu, Hongxia Li and Yue Yuan

    Citation: BMC Pediatrics 2020 20:211

    Content type: Case report

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  6. Monosomy 1p36 is the most common terminal deletion syndrome with an autosomal dominant pattern of inheritance. This syndrome is defined by an extremely wide spectrum of characteristics; however, developmental ...

    Authors: D. Nistico’, F. Guidolin, C. O. Navarra, M. Bobbo, A. Magnolato, A. P. D’Adamo, E. Giorgio, B. Pivetta, E. Barbi, P. Gasparini, M. Cadenaro and F. Sirchia

    Citation: BMC Pediatrics 2020 20:201

    Content type: Case report

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  7. Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-ol...

    Authors: Zhen Zhang, Xin Chen, Rui Zhou, Huaixiang Yin and Jiali Xu

    Citation: BMC Pediatrics 2020 20:190

    Content type: Case report

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  8. There is a limited understanding of the patient and family experience of Chronic Transfusion Therapy (CTT) for prevention of complications of Sickle Cell Disease (SCD). We sought to understand patient and fami...

    Authors: Lauren M. Hawkins, Cynthia B. Sinha, Diana Ross, Marianne E. M. Yee, Maa-Ohui Quarmyne, Lakshmanan Krishnamurti and Nitya Bakshi

    Citation: BMC Pediatrics 2020 20:172

    Content type: Research article

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  9. X-linked inhibitor of apoptosis (XIAP) deficiency is a rare primary immunodeficiency disease characterized by haemophagocytic lymphohistiocytosis, recurrent splenomegaly and inflammatory bowel disease (IBD). T...

    Authors: Jiamei Tang, Xiaoying Zhou, Lan Wang, Guorui Hu, Bixia Zheng, Chunli Wang, Yan Lu, Yu Jin, Hongmei Guo and Zhifeng Liu

    Citation: BMC Pediatrics 2020 20:171

    Content type: Case report

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  10. Recurrent bacterial infections of the respiratory tract are one of the major clinical features of the primary ciliary dyskinesia (PCD), a rare genetic disease due to malfunctioning of motile cilia. Chronic inf...

    Authors: G. Piatti, M. M. De Santi, A. Farolfi, G. V. Zuccotti, E. D’Auria, M. F. Patria, S. Torretta, D. Consonni and U. Ambrosetti

    Citation: BMC Pediatrics 2020 20:158

    Content type: Research article

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  11. Anomalous aortic origin of the left coronary artery (AAOLCA) from the right aortic sinus is a rare congenital anomaly associated with significantly increased risk of myocardial ischemia, arrhythmias and sudden...

    Authors: Anja Hanser, Andreas Hornung, Ludger Sieverding, Jürgen Schäfer and Michael Hofbeck

    Citation: BMC Pediatrics 2020 20:132

    Content type: Case report

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  12. Auto-immune polyendocrinopathy syndrome type I is a rare genetic disease, usually revealed by chronic superficial candidiasis and autoimmune endocrine dysfunction in childhood.

    Authors: Basilice Mireille Minka, Aurélie Sibetcheu T, Suzanne Ngo Um Sap and Maryse Césarine Bissa

    Citation: BMC Pediatrics 2020 20:128

    Content type: Case report

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  13. Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregul...

    Authors: Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola and Marco Tartaglia

    Citation: BMC Pediatrics 2020 20:120

    Content type: Case report

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  14. To carry out a complete clinical, pathological, genetic and microbiological characterization of pediatric patients with molecular confirmed cystic fibrosis (CF) attending the Carlos Andrade Marín Hospital (HCA...

    Authors: Yazmina Lascano-Vaca, Esteban Ortiz-Prado, Lenin Gomez-Barreno, Katherine Simbaña-Rivera, Eduardo Vasconez, Alexander Lister, María Emilia Arteaga-Espinosa and Geovanny F. Perez

    Citation: BMC Pediatrics 2020 20:111

    Content type: Research article

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  15. Hemophagocytic lymphohistiocytosis (HLH) is a rare potentially fatal illness characterized by impaired natural killer and cytotoxic T cell function. Chronic granulomatous disease (CGD) is an inherited immune d...

    Authors: Ang Wei, Honghao Ma, Liping Zhang, Zhigang Li, Qing Zhang, Dong Wang, Li Zhang, Hongyun Lian, Rui Zhang and Tianyou Wang

    Citation: BMC Pediatrics 2020 20:100

    Content type: Case report

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  16. Cystic fibrosis (CF) is the most common, life-threatening, autosomal-recessive disorder among Caucasians. To date, approximately 2000 mutations in the CFTR gene have been reported. Some of these mutations are ...

    Authors: Joanna Jaworska, Aleksandra Marach-Mocarska and Dorota Sands

    Citation: BMC Pediatrics 2020 20:90

    Content type: Case report

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  17. Only a few small studies have previously reported episodes of hypoglycemia in children with neuromuscular diseases; however, there has been no broader investigation into the occurrence of hypoglycemia in child...

    Authors: Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley and Carsten G. Bönnemann

    Citation: BMC Pediatrics 2020 20:57

    Content type: Research article

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  18. Maternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a unfavourable prognosis. The aim of the study was to c...

    Authors: Tereza Danhelovska, Hana Kolarova, Jiri Zeman, Hana Hansikova, Manuela Vaneckova, Lukas Lambert, Vendula Kucerova-Vidrova, Kamila Berankova, Tomas Honzik and Marketa Tesarova

    Citation: BMC Pediatrics 2020 20:41

    Content type: Research article

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  19. Acrodermatitis enteropathica (AE) is a rare autosomal recessive hereditary skin disease caused by mutations in the SLC39A4 gene and is characterized by periorificial dermatitis, alopecia and diarrhoea due to i...

    Authors: Wei Zhong, Chao Yang, Lei Zhu, Yu-Qi Huang and Yong-Feng Chen

    Citation: BMC Pediatrics 2020 20:34

    Content type: Case report

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  20. Double aneuploidies - especially in combination with structural aberrations - are extremely rare among liveborns. The most frequent association is that of Down (DS) and Klinefelter syndromes (KS). We present t...

    Authors: Eva Pinti, Anna Lengyel, Gyorgy Fekete and Iren Haltrich

    Citation: BMC Pediatrics 2020 20:17

    Content type: Case report

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  21. Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane...

    Authors: Joana Rosa, Patrícia Gaspar-Silva, Paula Pacheco, Conceição Silva, Cláudia C. Branco, Barbara S. Vieira, Alexandra Carreiro, Juan Gonçalves and Luisa Mota-Vieira

    Citation: BMC Pediatrics 2020 20:2

    Content type: Research article

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  22. Positional deformities (PD) are common during early infancy. Severe cases may result in facial abnormalities and be associated with delayed neurological development in infants. The earlier the detection of PD,...

    Authors: Wang Yang, Jianping Chen, Wenzhi Shen, Chengju Wang, Zhifeng Wu, Qing Chang, Wenzao Li, Kuilin Lv, Qiuming Pan, Hongxia Li, Duyao Ha and Yuping Zhang

    Citation: BMC Pediatrics 2019 19:520

    Content type: Research article

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  23. Isolated sulfite oxidase deficiency (ISOD) is an autosomal recessive disorder caused by a deficiency of sulfite oxidase, which is encoded by the sulfite oxidase gene (SUOX). Clinically, the disorder is classified...

    Authors: Maoqiang Tian, Yi Qu, Lingyi Huang, Xiaojuan Su, Shiping Li, Junjie Ying, Fengyan Zhao and Dezhi Mu

    Citation: BMC Pediatrics 2019 19:510

    Content type: Case report

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  24. Neonatal jaundice is a common finding in newborns in Asia, including Indonesia. In some cases, the serum total bilirubin levels exceeds the 95th percentile for hours of life (neonatal hyperbilirubinemia). Seve...

    Authors: Dewi A. Wisnumurti, Yunia Sribudiani, Robert M. Porsch, Ani M. Maskoen, Sri E. Rahayuningsih, Eni K. Asni, Frank Sleutels, Wilfred F. J. van Ijcken, Abdurachman Sukadi and Tri H. Achmad

    Citation: BMC Pediatrics 2019 19:506

    Content type: Research article

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  25. Cleft lip and/or palate is among the most prevalent congenital birth defects, and negatively affects maternal psychological status and may consequently result in higher prevalence of child maltreatment. Howeve...

    Authors: Shinobu Tsuchiya, Masahiro Tsuchiya, Haruki Momma, Takeyoshi Koseki, Kaoru Igarashi, Ryoichi Nagatomi, Takahiro Arima and Nobuo Yaegashi

    Citation: BMC Pediatrics 2019 19:505

    Content type: Research article

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  26. Pulmonary arterial hypertension (PAH) caused by congenital heart disease (CHD) is very common in clinics. Some studies have shown that PAH is related to the number of endothelial progenitor cells (EPCs), but t...

    Authors: Hong-Xiao Sun, Guo-Ju Li, Zhan-Hui Du, Zhen Bing, Zhi-Xian Ji, Gang Luo and Si-Lin Pan

    Citation: BMC Pediatrics 2019 19:502

    Content type: Research article

    Published on:

  27. Recently, pathogenic alleles within ubiquitin N-recognin domain-containing E3 ligase 4 (UBR4) gene have been shown to be associated with Hirschsprung disease (HSCR). We determined the UBR4 expressions in Indonesi...

    Authors: Gunadi, Alvin Santoso Kalim, Estelita Liana, Aditya Rifqi Fauzi, Dian Nirmala Sirait, Dwiki Afandy, Sagita Mega Sekar Kencana, Eko Purnomo, Kristy Iskandar and Akhmad Makhmudi

    Citation: BMC Pediatrics 2019 19:493

    Content type: Research article

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  28. Visible congenital malformations (VCMs) are one of the principal causes of disability in the world. Prenatal diagnosis is a paramount mandatory integral part of the follow up of pregnancies with VCM of the foe...

    Authors: Igor Kamla, Nelly Kamgaing, Serge Billong, Joel Noutakdie Tochie, Paul Tolefac and Vincent de Paul Djientcheu

    Citation: BMC Pediatrics 2019 19:457

    Content type: Research article

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  29. Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into ...

    Authors: Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao, Qiaoli Yu, Haiying Liu, Zhikun Lu, Huiyin Sheng, Xinshuo Lu, Yonglan Huang, Li Liu and Chunhua Zeng

    Citation: BMC Pediatrics 2019 19:456

    Content type: Case report

    Published on:

  30. Epilepsy is a complex disorder caused by various factors, including genetic aberrance. Recent studies have identified an essential role of the sodium channel Nav1.6, encoded by the gene SCN8A, in epileptic enceph...

    Authors: Kao-Min Lin, Geng Su, Fengpeng Wang, Xiaobin Zhang, Yuanqing Wang, Jun Ren, Xin Wang, Yi Yao and Ying Zhou

    Citation: BMC Pediatrics 2019 19:400

    Content type: Case report

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  31. Although the sternoclavicular joint (SCJ) may be involved in ankylosing spondylitis, rheumatic arthritis, and Behçet’s disease and participates in the systemic inflammatory process of arthritis, it is often ne...

    Authors: Po-Yu Huang, Ling-Sai Chang, Mindy Ming-Huey Guo and Ho-Chang Kuo

    Citation: BMC Pediatrics 2019 19:373

    Content type: Case report

    Published on:

  32. Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered ...

    Authors: Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding and Aihua Yin

    Citation: BMC Pediatrics 2019 19:364

    Content type: Case report

    Published on:

  33. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25...

    Authors: Linlin Zhang, Yingying Li, Wenli Shi, Jinshuang Gao, Yuan Tian, Ying Li, Yaqing Guo, Shihong Cui and Xiaoan Zhang

    Citation: BMC Pediatrics 2019 19:348

    Content type: Case report

    Published on:

  34. DNA ligase IV deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV (LIG4) gene. DNA ligase IV is an essential protein for the development of a healthy immune s...

    Authors: Sarah Schober, Karin Schilbach, Michaela Doering, Karin M. Cabanillas Stanchi, Ursula Holzer, Patrick Kasteleiner, Jens Schittenhelm, Juergen F. Schaefer, Ingo Mueller, Peter Lang and Rupert Handgretinger

    Citation: BMC Pediatrics 2019 19:346

    Content type: Case report

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    The Correction to this article has been published in BMC Pediatrics 2019 19:470

  35. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. I...

    Authors: Hao Liu, Jing-kun Miao, Chao-wen Yu, Ke-xing Wan, Juan Zhang, Zhao-jian Yuan, Jing Yang, Dong-juan Wang, Yan Zeng and Lin Zou

    Citation: BMC Pediatrics 2019 19:344

    Content type: Case report

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  36. Congenital heart disease (CHD) is the most prevalent congenital malformation affecting 1 in 100 newborns. While advances in early diagnosis and postnatal management have increased survival in CHD children, wor...

    Authors: I. Ribera, A. Ruiz, O. Sánchez, E. Eixarch, E. Antolín, E. Gómez-Montes, M. Pérez-Cruz, M. Cruz-Lemini, M. Sanz-Cortés, S. Arévalo, Q. Ferrer, E. Vázquez, L. Vega, P. Dolader, A. Montoliu, H. Boix…

    Citation: BMC Pediatrics 2019 19:326

    Content type: Study protocol

    Published on:

  37. Scimitar syndrome is a rare form of partial anomalous pulmonary venous drainage associated with pulmonary hypertension and congestive heart failure that may lead to death in the newborn infant. Although it is ...

    Authors: Tamirat Moges Aklilu, Messele Chanie Adhana and Azmeraw Gissila Aboye

    Citation: BMC Pediatrics 2019 19:296

    Content type: Case report

    Published on:

  38. Fraser syndrome is a rare genetic disorder that often presents with ocular, renal, genital and limb’s congenital anomalies. The prognosis of this genetic disorder depends on the severity of the combination of ...

    Authors: Aimé Mbonda, Francky Teddy Endomba, Ulrick S. Kanmounye, Jan René Nkeck and Joel Noutakdie Tochie

    Citation: BMC Pediatrics 2019 19:292

    Content type: Case report

    Published on: