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Genetics and congenital disorders

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

Page 1 of 5

  1. The Raynaud-Claes type of X-linked syndromic mental retardation (MRXSRC) is a very rare condition, by intellectual disability ranged from borderline to profound, impaired language development, brain abnormalit...

    Authors: Xin Xu, Fen Lu, Li Zhang, Hongying Li, Senjie Du and Jian Tang

    Citation: BMC Pediatrics 2021 21:384

    Content type: Case report

    Published on:

  2. Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinically, IMO can be diagnose...

    Authors: Ping Wu, Zhe Cai, Wen-Hui Jiang, Gen Lu, Pei-Qiong Wu, Zhi-Wei Xie, Jun-Zheng Peng, Chen Chen, Jun-Ye Qi, Li-Zhen Xu, Kun-Ling Shen, Hua-Song Zeng and Gen-Quan Yin

    Citation: BMC Pediatrics 2021 21:297

    Content type: Case report

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  3. The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by ...

    Authors: Delia Lorenz, Wolfram Kress, Ann-Kathrin Zaum, Christian P. Speer and Helge Hebestreit

    Citation: BMC Pediatrics 2021 21:293

    Content type: Case report

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  4. Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes o...

    Authors: Zhanhui Du, Gang Luo, Kuiliang Wang, Zhen Bing and Silin Pan

    Citation: BMC Pediatrics 2021 21:291

    Content type: Case report

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  5. Neonatal hyperbilirubinemia causing jaundice is common in East Asian population. Uridine diphosphate glucuronosyltransferase isoenzyme (UGT1A1) glucuronidates bilirubin and converts the toxic form of bilirubin...

    Authors: Hui Yang, Fen Lin, Zi-kai Chen, Lin Zhang, Jia-Xin Xu, Yong-Hao Wu, Jing-Ying Gu, Yu-Bin Ma, Jian-Dong Li and Li-Ye Yang

    Citation: BMC Pediatrics 2021 21:259

    Content type: Research article

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  6. Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de ...

    Authors: Qingyun Kang, Liming Yang, Hongmei Liao, Sai Yang, Xiaojun Kuang, Zeshu Ning, Caishi Liao and Bo Chen

    Citation: BMC Pediatrics 2021 21:256

    Content type: Case report

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  7. Interstitial deletions of chromosome band 10q11-q22 was a genomic disorder distinguished by developmental delay, congenital cleft palate and muscular hypotonia. The phenotypes involved were heterogeneous, hing...

    Authors: Dalin Fu, Weisheng Lin, Fen Lu, Senjie Du, Min Zhu, Xiaoke Zhao, Jian Tang, Chuan Chen, Xiaoli Chui, Shanmei Tang, Kai Wang, Chuanchun Yang and Bei Han

    Citation: BMC Pediatrics 2021 21:254

    Content type: Case report

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  8. Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HL...

    Authors: Qing Zhang, Yun-Ze Zhao, Hong-Hao Ma, Dong Wang, Nan Zhang, Zhi-Gang Li and Rui Zhang

    Citation: BMC Pediatrics 2021 21:253

    Content type: Case report

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  9. Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, on...

    Authors: Gang Zhang, Min Xu, Tingting Huang, Wenxin Lin, Jinglin Chen, Wangyang Chen and Xingzhi Chang

    Citation: BMC Pediatrics 2021 21:209

    Content type: Case report

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  10. Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent ventricular trabeculations on cardiovascular imaging. Acquired reversible LVNC has not been reported in pediatrics without a g...

    Authors: Riko Kato, Hiromichi Taneichi, Shinya Takarada, Mako Okabe, Nariaki Miyao, Hideyuki Nakaoka, Keijiro Ibuki, Sayaka Ozawa, Yuichi Adachi, Naoki Yoshimura, Kazuyoshi Saito, Fukiko Ichida and Keiichi Hirono

    Citation: BMC Pediatrics 2021 21:205

    Content type: Case report

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  11. Neural tube defects are common congenital anomalies that result from early malformation in the development of the spinal cord and brain. It is related to substantial mortality, morbidity, disability, and psych...

    Authors: Mohammed Oumer, Ashenafi Tazebew and Mezgebu Silamsaw

    Citation: BMC Pediatrics 2021 21:190

    Content type: Research article

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  12. Glycogen storage disease (GSD) type IXb is one of the rare variants of GSDs. It is a genetically heterogeneous metabolic disorder due to deficient hepatic phosphorylase kinase activity. Diagnosis of GSD can be...

    Authors: Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Alireza Alborzi and Alireza Shojazadeh

    Citation: BMC Pediatrics 2021 21:175

    Content type: Case report

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  13. Cystic Fibrosis (CF) is one of the most prevalent autosomal recessive inherited disease in Caucasians. Rates of CF were thought to be negligible in non-Caucasians but growing epidemiological evidence shows CF ...

    Authors: Bennett O. V. Shum, Glenn Bennett, Akash Navilebasappa and R. Kishore Kumar

    Citation: BMC Pediatrics 2021 21:154

    Content type: Case report

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  14. Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of intramural ganglion cells in the distal gastrointestinal tract (GI), which results in tonic contraction of the aganglionic g...

    Authors: Jing Wang, Jun Xiao, Xinyao Meng, Xufeng Chu, Di Di Zhuansun, Bo Xiong and Jiexiong Feng

    Citation: BMC Pediatrics 2021 21:153

    Content type: Research article

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  15. Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are ob...

    Authors: Monika Bekiesinska-Figatowska, Marek Duczkowski, Agnieszka Duczkowska, Joanna Taybert, Amanda Krzywdzinska and Jolanta Sykut-Cegielska

    Citation: BMC Pediatrics 2021 21:146

    Content type: Case report

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  16. Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of ...

    Authors: Ting Ting Zhu, Jin Wu, Li Yuan Wang and Xiao Mei Sun

    Citation: BMC Pediatrics 2021 21:126

    Content type: Case report

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  17. Neural tube defects (NTDs) are a group of birth defects that result from a partial or complete failure of the neural tube to close during embryogenesis. Their prevalence varies between 0.5 to 2 per 1000 births...

    Authors: Khenata Forci, El Arbi Bouaiti, Mohamed Hassan Alami, Asmaa Mdaghri Alaoui and Amal Thimou Izgua

    Citation: BMC Pediatrics 2021 21:124

    Content type: Research article

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  19. Bi-allelic mutations in FAM20C gene are known to cause a rare genetic disorder- Raine syndrome (RS). The FAM20C protein binds calcium and phosphorylates proteins involved in biomineralization of bones and teeth. ...

    Authors: Shruti Bajaj, Fazal Nabi, Jhanvi Shah and Harsh Sheth

    Citation: BMC Pediatrics 2021 21:113

    Content type: Case report

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  20. Backed by over 20 years of research development, the Wheelchair Skills Program (WSP) has proven to be a safe and effective program to improving wheelchair skills for adult wheelchair users. However, evidence i...

    Authors: Geneviève Daoust, Paula W. Rushton, Marissa Racine, Karolann Leduc, Najoua Assila and Louise Demers

    Citation: BMC Pediatrics 2021 21:103

    Content type: Research article

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  21. Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome that is characterized by strong activation of the immune system from hyperinflammatory cytokines. Symptoms of HLH patients incl...

    Authors: Fahad Alabbas, Ghaleb Elyamany, Talal Alanzi, Tahani Bin Ali, Fatma Albatniji and Huda Alfaraidi

    Citation: BMC Pediatrics 2021 21:72

    Content type: Case report

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  22. Waardenburg syndrome (WS) is a rare genetic disorder. The purpose of this study was to investigate clinical and molecular characteristics of WS in four probands from four different Iranian families.

    Authors: Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri and Saeid Morovvati

    Citation: BMC Pediatrics 2021 21:70

    Content type: Case report

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  23. Plexiform neurofibromas (PNs) are congenital tumors that affect around 50 % of the subjects with neurofibromatosis type 1. Despite being histologically benign, PNs can grow rapidly, especially in the pediatric...

    Authors: Francesco Baldo, Andrea Magnolato, Egidio Barbi and Irene Bruno

    Citation: BMC Pediatrics 2021 21:67

    Content type: Case report

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  24. Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contr...

    Authors: Shuchen Gu, Yimin Khoong, Xin Huang and Tao Zan

    Citation: BMC Pediatrics 2021 21:46

    Content type: Case report

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  25. KRAS (KRAS proto-oncogene, GTPase; OMIM: 190,070) encodes one of three small guanosine triphosphatase proteins belonging to the RAS family. This group of proteins is responsible for cell proliferation, differenti...

    Authors: Geraldine Blanchard-Rohner, Robert J. Ragotte, Anne K. Junker, Mehul Sharma, Kate L. Del Bel, Henry Y. Lu, Stephanie Erdle, Alanna Chomyn, Harinder Gill, Lori B. Tucker, Richard A. Schreiber, Jacob Rozmus, Catherine M. Biggs, Kyla J. Hildebrand, John Wu, Sylvia Stockler-Ipsiroglu…

    Citation: BMC Pediatrics 2021 21:45

    Content type: Case report

    Published on:

  27. 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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  28. 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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  29. 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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  30. 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

    Published on:

  31. 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

    Published on:

  32. 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

    Published on:

  33. 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

    Published on:

  34. 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

    Published on:

  35. 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

    Published on:

  36. 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

    Published on:

  37. 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

    Published on:

  38. 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

    Published on:

  39. 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

    Published on:

  40. 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

    Published on:

  41. 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

    Published on:

  42. 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

    Published on:

  43. 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

    Published on:

  44. 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

    Published on:

  46. 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

    Published on:

  47. 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

    Published on:

  48. 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

    Published on:

  49. 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

    Published on:

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