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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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  2. Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase ...

    Authors: Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath and Duangrurdee Wattanasirichaigoon

    Citation: BMC Pediatrics 2021 21:22

    Content type: Research article

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  3. Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with p...

    Authors: Zhuhui Ge, Jianhua Mao, Huijun Shen, Yu Xu, Haidong Fu, Weiwei Zhang and Dongyan Li

    Citation: BMC Pediatrics 2021 21:18

    Content type: Case report

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  4. N-methyl-D-aspartate (NMDA) receptors are ligand-gated ion channels that mediate excitatory synaptic transmission in the central nervous system. The functional NMDA receptors are heterotetramers consisting mai...

    Authors: Jiancheng Jiao, Li Li, Min Sun, Junchen Fang, Lingzhi Meng, Yudong Zhang, Chao Jia and Li Ma

    Citation: BMC Pediatrics 2021 21:5

    Content type: Case report

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  5. Abundant clinical evidences indicate that the increased risk of cerebral palsy (CP) may be associated with the intrauterine exposure to maternal infection. Cytomegalovirus (CMV) is a common cause of CP. Howeve...

    Authors: H Xu, L Zhang, XY Xuan, M Zhu, J Tang and XK Zhao

    Citation: BMC Pediatrics 2020 20:555

    Content type: Research article

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  6. X-linked agammaglobulinemia (XLA, OMIM#300,300), caused by mutations in the Bruton tyrosine kinase (BTK) gene, is a rare monogenic inheritable immunodeficiency disorder. Ecthyma gangrenosum is a cutaneous lesion ...

    Authors: Haixia Huang, Ke Bai, Yueqiang Fu, Jin Yan and Jing Li

    Citation: BMC Pediatrics 2020 20:540

    Content type: Case report

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  7. Cardiovascular anomalies are the largest group of congenital anomalies and the major cause of death in young children, with various data linking rising atrial septal defect incidence (ASDI) with prenatal canna...

    Authors: Albert Stuart Reece and Gary Kenneth Hulse

    Citation: BMC Pediatrics 2020 20:539

    Content type: Research article

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  8. Hemiscrotal agenesis (HSA) is an exceedingly rare congenital anomaly in scrotal development. It is characterized by unilateral absence of scrotal skin with intact midline raphe. In the English literature, only...

    Authors: Mohamed Mansy, Mostafa Kotb, Yasmine Abdelmeguid, Shaymaa Raafat and Marwa Abdelaziz

    Citation: BMC Pediatrics 2020 20:536

    Content type: Case report

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  9. This report summarizes the clinical characteristics of intractable anemia as part of the clinical presentation of Hirschsprung’s disease (HD) and aims to strengthen clinicians’ ability to recognize early signs...

    Authors: Xiaoang Sun, Jun Chu, Chenchen Li and Zhaohui Deng

    Citation: BMC Pediatrics 2020 20:525

    Content type: Case report

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  10. Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glu...

    Authors: S. C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A. J. Mueller, S. Beck-Wödl, T. B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal and U. Spiekerkoetter

    Citation: BMC Pediatrics 2020 20:518

    Content type: Case report

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  11. Cerebral palsy (CP) is the most common cause of physical disability in early childhood. Vibration therapy (VT) is a promising rehabilitation approach for children with CP with potential to impact mobility, bon...

    Authors: Alena Adaikina, Paul L. Hofman and Silmara Gusso

    Citation: BMC Pediatrics 2020 20:508

    Content type: Study protocol

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  12. Pediatric patients with genetic disorders have a higher incidence of pulmonary arterial hypertension (PAH) regardless of their heart defects. Filamin A (FLNA) mutation is recently recognized to be associated with...

    Authors: Xiaoxian Deng, Shanshan Li, Qiu Qiu, Bowen Jin, Menghuan Yan, Yuanpin Hu, Yang Wu, Hongmei Zhou, Gangcheng Zhang and Xuan Zheng

    Citation: BMC Pediatrics 2020 20:504

    Content type: Case report

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  13. Preoperative diagnosis of total colonic aganglionosis is important for the rational choice of treatment. The present study aimed to evaluate the diagnostic performance of radiographic signs on preoperative bar...

    Authors: Jiayu Yan, Jihang Sun, Rongchang Wu, Sarah Siyin Tan, Yongwei Chen, Yun Peng and Yajun Chen

    Citation: BMC Pediatrics 2020 20:499

    Content type: Research article

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  14. Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and soft tissue vulnerable to blunt injury. Early recognition and ...

    Authors: Wei-Ching Chiu, Shu-Huey Chen, Mei-Chen Lo and Yung-Ting Kuo

    Citation: BMC Pediatrics 2020 20:495

    Content type: Case report

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  15. Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation. Neonatal intrahepatic cholestasis caused by citrin deficienc...

    Authors: Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang and Qingliu Fu

    Citation: BMC Pediatrics 2020 20:478

    Content type: Case report

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  16. Congenital nasolacrimal duct obstruction (CNLDO) is one of the main causes of epiphora in infants, and antibiotics are usually used as a conservative therapy in the first year. Yet, little is known about the b...

    Authors: Xiao-Yu Zheng, Bonnie Nga Kwan Choy, Ming-Ming Zhou, Cai-Ping Shi and Zheng-Yan Zhao

    Citation: BMC Pediatrics 2020 20:465

    Content type: Research article

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  17. Transcobalamin (TC) transports vitamin B12 from blood into cells. TC II deficiency is a rare autosomal recessive disorder. It is characterized by failure to thrive, diarrhoea, pallor, anaemia, pancytopenia or ...

    Authors: Shihong Zhan, Fangfang Cheng, Hailong He, Shaoyan Hu and Xing Feng

    Citation: BMC Pediatrics 2020 20:460

    Content type: Case report

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  18. 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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  19. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  27. 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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  28. 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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  29. 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

    Published on:

  30. 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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  31. 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

    Published on:

  32. 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

    Published on:

  34. 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

    Published on:

  35. 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

    Published on:

  36. 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:

  37. 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

    Published on:

  40. 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

    Published on:

  41. 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

    Published on:

  42. 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

    Published on:

  43. 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

    Published on:

  44. 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

    Published on:

  46. 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

    Published on:

  47. 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

    Published on:

  48. 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

    Published on:

  50. 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

    Published on:

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