Skip to main content

Advertisement

Genetics and congenital disorders

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

Page 1 of 4

  3. 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:

  4. 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

    Published on:

  6. 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

    Published on:

  7. 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

    Published on:

  8. 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

    Published on:

  9. 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

    Published on:

  10. 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

    Published on:

  11. 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

    Published on:

  12. 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:

  13. 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

    Published on:

  14. 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

    Published on:

  15. 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

    Published on:

  17. 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

    Published on:

  18. 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

    Published on:

  19. 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

    Published on:

  20. 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:

  21. 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

    Published on:

  22. 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

    Published on:

  23. 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:

  25. 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

    Published on:

  26. 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:

  28. 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:

  30. 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:

  31. 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

    Published on:

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

  32. 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

    Published on:

  35. 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:

  36. 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:

  37. 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:

  38. POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spa...

    Authors: Shuiyan Wu, Zhenjiang Bai, Xingqiang Dong, Daoping Yang, Hongmei Chen, Jun Hua, Libing Zhou and Haitao Lv

    Citation: BMC Pediatrics 2019 19:289

    Content type: Case report

    Published on:

  39. Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1. The diagnosis is based on the revised Ghent criteria. The main features involve the cardiovascular, musculoskeletal, opht...

    Authors: Jessica Warnink-Kavelaars, Anita Beelen, Sarah Dekker, Frans Nollet, Leonie A. Menke and Raoul H. H. Engelbert

    Citation: BMC Pediatrics 2019 19:262

    Content type: Research article

    Published on:

  40. Cleft lip and palate deformities are considered one of the most common birth defects of the head and neck that pose significant medical, psychosocial and financial burdens on the affected individuals and famil...

    Authors: Konjit K. Bekele, Peter E. Ekanem and Berhanu Meberate

    Citation: BMC Pediatrics 2019 19:254

    Content type: Research article

    Published on:

  41. X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Altho...

    Authors: Guannan He, Yan Yin, Jing Zhao, Xueyan Wang, Jiaxiang Yang, Xi Chen, Li Ding and Yan Bai

    Citation: BMC Pediatrics 2019 19:250

    Content type: Case report

    Published on:

  42. This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnos...

    Authors: Tiziana Coppola, Bradford Becken, Heather Van Mater, Marie Theresa McDonald and Gabriela Maradiaga Panayotti

    Citation: BMC Pediatrics 2019 19:245

    Content type: Case report

    Published on:

  43. Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the pro...

    Authors: Donald B. Bailey Jr, Lisa M. Gehtland, Megan A. Lewis, Holly Peay, Melissa Raspa, Scott M. Shone, Jennifer L. Taylor, Anne C. Wheeler, Michael Cotten, Nancy M. P. King, Cynthia M. Powell, Barbara Biesecker, Christine E. Bishop, Beth Lincoln Boyea, Martin Duparc, Blake A. Harper…

    Citation: BMC Pediatrics 2019 19:238

    Content type: Study protocol

    Published on:

  44. During the first three months of pregnancy, the developing embryo may be susceptible to external and internal factors, which may lead to structural and functional congenital anomalies. The main objective of th...

    Authors: Molla Taye, Mekbeb Afework, Wondwossen Fantaye, Ermias Diro and Alemayehu Worku

    Citation: BMC Pediatrics 2019 19:234

    Content type: Research article

    Published on:

  45. Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To da...

    Authors: Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang and Xiumin Wang

    Citation: BMC Pediatrics 2019 19:233

    Content type: Case report

    Published on:

  46. Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessive inborn errors of metabolism characterized by hyperammonemia due to N-acetylglutamate synthase (NAGS) dysfunction. Carglumic...

    Authors: Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari and Majid Alfadhel

    Citation: BMC Pediatrics 2019 19:195

    Content type: Study protocol

    Published on:

  47. Neutrophils and eosinophils are multifunctional granulocytes derived from common myelocytic-committed progenitor cells. Severe congenital neutropenia 1 (SCN1) caused by ELANE mutations is a rare disease character...

    Authors: Qiao Liu, Martina Sundqvist, Wenyan Li, André Holdfeldt, Liang Zhang, Lena Björkman, Johan Bylund, Claes Dahlgren, Cai Wang, Xiaodong Zhao and Huamei Forsman

    Citation: BMC Pediatrics 2019 19:189

    Content type: Research article

    Published on:

  49. Insufficient elastin synthesis leads to vascular complications and arterial hypertension in children with Williams-Beuren syndrome. Restoring sufficient quantity of elastin should then result in prevention or ...

    Authors: Behrouz Kassai, Philippe Bouyé, Brigitte Gilbert-Dussardier, François Godart, Jean-Benoit Thambo, Massimiliano Rossi, Pierre Cochat, Pierre Chirossel, Stephane Luong, André Serusclat, Isabelle Canterino, Catherine Mercier, Muriel Rabilloud, Christine Pivot, Fabrice Pirot, Tiphanie Ginhoux…

    Citation: BMC Pediatrics 2019 19:170

    Content type: Research article

    Published on:

  50. Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD gene mutation (ADTKD-UMOD) is rare in children, characterized by hyperuricemia, gout, and progressive chronic kidney disease. It usually...

    Authors: Jing Yang, Yu Zhang and Jianhua Zhou

    Citation: BMC Pediatrics 2019 19:145

    Content type: Case report

    Published on:

Submit manuscript

Follow

2018 Journal Metrics

Advertisement

BMC Pediatrics

ISSN: 1471-2431

Contact us