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Genetics and congenital disorders

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

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  1. Haemoptysis is an uncommon presenting symptom in children and is usually caused by acute lower respiratory tract infection or foreign body aspiration. We report a rare case of right unilateral pulmonary vein a...

    Authors: Martin Ngie Liong Wong, Ing Ping Tang, Yek Kee Chor, Kiew Siong Lau, Anne Rachel John, King Ching Hii, Olive Pei Yi Lee, Wooi Kok Lim and Hannah Pei Koon Tan

    Citation: BMC Pediatrics 2020 20:448

    Content type: Case report

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  2. Citrin deficiency (CD) is a recessive metabolic disease caused by biallelic pathogenic variants in SLC25A13. Although previous studies have reported ketosis in CD, it was observed at the time of euglycemia or mil...

    Authors: Yoichi Wada, Natsuko Arai-Ichinoi, Atsuo Kikuchi, Osamu Sakamoto and Shigeo Kure

    Citation: BMC Pediatrics 2020 20:444

    Content type: Case report

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  3. Ultrasonography is commonly used to diagnose left ventricular noncompaction (LVNC). A ratio of noncompacted to compacted myocardium (NC/C ratio) > >2 is often used to diagnose LVNC. However, a large proportion...

    Authors: Yi Gan, Li Luo, Jie Tian, Lingjuan Liu and Tiewei Lu

    Citation: BMC Pediatrics 2020 20:430

    Content type: Research article

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  4. Optic atrophy 1 (OPA1) gene mutations are associated with dominantly inherited optic neuropathy resulting in a progressive loss of visual acuity. Compound heterozygous or homozygous variants that lead to sever...

    Authors: Ting Zeng, Linyan Liao, Yi Guo, Xuxu Liu, Xiaobo Xiong, Yu Zhang, Shi Cen, Honghui Li and Shuzhang Wei

    Citation: BMC Pediatrics 2020 20:420

    Content type: Case report

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  5. The diagnostic gold standard of Hirschsprung’s disease (HD) is based on the histopathological assessment of colorectal biopsies. Although data on cholinergic innervation and ganglion cell (GC) distribution exi...

    Authors: Anne K. Braczynski, Stefan Gfroerer, Rudi Beschorner, Patrick N. Harter, Peter Baumgarten, Udo Rolle and Michel Mittelbronn

    Citation: BMC Pediatrics 2020 20:399

    Content type: Research article

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  6. Kawasaki disease (KD) causes coronary artery lesions (CAL) and is the leading cause of acquired heart disease in children. The aim of this study is to evaluate the risk factors and set-up a scoring system for ...

    Authors: Ling-Sai Chang, Yi-Ju Lin, Jia-Huei Yan, Mindy Ming-Huey Guo, Mao-Hung Lo and Ho-Chang Kuo

    Citation: BMC Pediatrics 2020 20:398

    Content type: Research article

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  7. Melnick-Needles syndrome (MNS) is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A. MNS is inherited in an X-linked dominant manner. In this study, we describe thr...

    Authors: Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun and Soonchul Lee

    Citation: BMC Pediatrics 2020 20:391

    Content type: Case report

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  8. Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder presenting as isolated direct hyperbilirubinemia.DJS is rarely diagnosed in the neonatal period. The purpose of this study was to clarify the cli...

    Authors: Kwang Yeon Kim, Tae Hyeong Kim, Moon-Woo Seong, Sung Sup Park, Jin Soo Moon and Jae Sung Ko

    Citation: BMC Pediatrics 2020 20:369

    Content type: Research article

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  9. Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by sleep apnea. Anoxia often occurs soon after birth, and it is important to prevent anoxia-mediated central nervous system co...

    Authors: Tomomi Ogata, Kazuhiro Muramatsu, Kaori Miyana, Hiroshi Ozawa, Motoki Iwasaki and Hirokazu Arakawa

    Citation: BMC Pediatrics 2020 20:342

    Content type: Research article

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  10. 13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to colle...

    Authors: Xue He, Huijun Shen, Haidong Fu, Chunyue Feng, Zhixia Liu, Yanyan Jin and Jianhua Mao

    Citation: BMC Pediatrics 2020 20:327

    Content type: Case report

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  11. More than 50% of newborns with congenital heart disease (CHD) are unrecognized at birth; however, the use of echocardiogram (Echo) for diagnosing CHD in newborns with asymptomatic, non-syndromic cardiac murmur...

    Authors: Shin Ae Yoon, Woi Hyun Hong and Hwa Jin Cho

    Citation: BMC Pediatrics 2020 20:322

    Content type: Research article

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  12. The occurrence of multiple endocrine neoplasia type 2B (MEN2B) in Asians is very rare. In particular, patients with intractable constipation as the main clinical manifestation are even rarer. Atypical clinical...

    Authors: Lidan Zhang, Yan Guo, Lei Ye, Wenli Lu, Zhiya Dong, Wei Wang and Yuan Xiao

    Citation: BMC Pediatrics 2020 20:318

    Content type: Case report

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  13. PPP3CA gene encodes the catalytic subunit A of a calcium-dependent protein phosphatase called calcineurin. However, two distinct mechanisms in PPP3CA deficiency would cause two clinically different diseases. Gain...

    Authors: Sai Yang, Xiang Shen, Qingyun Kang, Xiaojun Kuang, Zeshu Ning, Shulei Liu, Hongmei Liao, Zhenhua Cao and Liming Yang

    Citation: BMC Pediatrics 2020 20:315

    Content type: Case report

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  14. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia, specific to each population, would be prognostically useful and could inform personalized therapeutics.The objective of ...

    Authors: Abdourahim Chamouine, Thoueiba Saandi, Mathias Muszlak, Juliette Larmaraud, Laurent Lambrecht, Jean Poisson, Julien Balicchi, Serge Pissard and Narcisse Elenga

    Citation: BMC Pediatrics 2020 20:302

    Content type: Research article

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  15. Bainbridge–Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in Ch...

    Authors: Linfeng Yang, Bin Guo, Weiwei Zhu, Lei Wang, Bingjuan Han, Yena Che and Lingfei Guo

    Citation: BMC Pediatrics 2020 20:287

    Content type: Case report

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  16. 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

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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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

    Published on:

  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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