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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. Content type: Research article

    Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld ...

    Authors: Conor Keogh, Giorgio Pini, Adam H. Dyer, Stefania Bigoni, Pietro DiMarco, Ilaria Gemo, Richard Reilly and Daniela Tropea

    Citation: BMC Pediatrics 2018 18:333

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  2. Content type: Research article

    Moldova is ranked as one of the countries in Europe with the lowest income per capita and with a relatively high infant and maternal mortality rate. Information on neurodisabilities in general is limited, and ...

    Authors: Ecaterina Gincota Bufteac, Guro L. Andersen, Vik Torstein and Reidun Jahnsen

    Citation: BMC Pediatrics 2018 18:332

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  3. Content type: Case report

    Inherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert’s syndrome and Crigler-Najjar syndrome types I and II. These syndromes are differentiated on the basis of UGT1...

    Authors: Linda Gailite, Dmitrijs Rots, Ieva Pukite, Gunta Cernevska and Madara Kreile

    Citation: BMC Pediatrics 2018 18:317

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  4. Content type: Case report

    Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and het...

    Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva and Harendra De Silva

    Citation: BMC Pediatrics 2018 18:308

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  5. Content type: Case report

    Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p...

    Authors: Irene Plaza Pinto, Lysa Bernardes Minasi, Raphael Steckelberg, Claudio Carlos da Silva and Aparecido Divino da Cruz

    Citation: BMC Pediatrics 2018 18:298

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  6. Content type: Research article

    Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations in neuregulin 1 (NRG1) gene hav...

    Authors: Gunadi, Nova Yuli Prasetyo Budi, Raman Sethi, Aditya Rifqi Fauzi, Alvin Santoso Kalim, Taufik Indrawan, Kristy Iskandar, Akhmad Makhmudi, Indra Adrianto and Lai Poh San

    Citation: BMC Pediatrics 2018 18:292

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  7. Content type: Research article

    Conotruncal heart defects (CTDs) are a subgroup of congenital heart defects that are considered to be the most common type of birth defect worldwide. Genetic disturbances in folate metabolism may increase the ...

    Authors: Xike Wang, Haitao Wei, Ying Tian, Yue Wu and Lei Luo

    Citation: BMC Pediatrics 2018 18:287

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  8. Content type: Case report

    Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pig...

    Authors: Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri and Annachiara De Sandre-Giovannoli

    Citation: BMC Pediatrics 2018 18:286

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  9. Content type: Case report

    A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 ...

    Authors: Karin E. Lundin, Qing Wang, Abdulrahman Hamasy, Per Marits, Mehmet Uzunel, Valtteri Wirta, Ann-Charlotte Wikström, Anders Fasth, Olov Ekwall and C.I. Edvard Smith

    Citation: BMC Pediatrics 2018 18:285

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  10. Content type: Research article

    Variation in genes of the leptinergic-melanocortinergic system influence both body weight and height. Because short normal stature (SNS) is characterized by reduced body height, delayed maturation and leanness...

    Authors: Nikolas Herrfurth, Anna-Lena Volckmar, Triinu Peters, Gunnar Kleinau, Anne Müller, Cigdem Cetindag, Laura Schonnop, Manuel Föcker, Astrid Dempfle, Stefan A. Wudy, Struan F. A. Grant, Thomas Reinehr, Diana L. Cousminer, Johannes Hebebrand, Heike Biebermann and Anke Hinney

    Citation: BMC Pediatrics 2018 18:278

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  11. Content type: Case report

    Trisomy 10 is very rarely diagnosed, especially in living persons. Most reports of trisomy 10 pertain to prenatal diagnosis of trisomy 10 in the fetus. In addition, trisomy 10 has been reported as part of part...

    Authors: Yang Gao, Yu-cong Ma, Yang-hua Ju and Ya-nan Li

    Citation: BMC Pediatrics 2018 18:266

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  12. Content type: Case report

    Microphthalmia with linear skin defects (MLS) syndrome is a rare neurodevelopmental X-dominant disorder. It presents in females as it is normally lethal in males. Three causative genes for MLS syndrome (OMIM 3...

    Authors: Nina Prepeluh, Bojan Korpar, Andreja Zagorac, Boris Zagradišnik, Andreja Golub and Nadja Kokalj Vokač

    Citation: BMC Pediatrics 2018 18:254

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  13. Content type: Study protocol

    Of children with hemiplegic cerebral palsy, 75% have impaired somatosensory function, which contributes to learned non-use of the affected upper limb. Currently, motor learning approaches are used to improve u...

    Authors: Belinda McLean, Misty Blakeman, Leeanne Carey, Roslyn Ward, Iona Novak, Jane Valentine, Eve Blair, Susan Taylor, Natasha Bear, Michael Bynevelt, Emma Basc, Stephen Rose, Lee Reid, Kerstin Pannek, Jennifer Angeli, Karen Harpster…

    Citation: BMC Pediatrics 2018 18:252

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  14. Content type: Case report

    Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic ...

    Authors: Lisa B. E. Shields, Dennis S. Peppas and Eran Rosenberg

    Citation: BMC Pediatrics 2018 18:231

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  15. Content type: Study protocol

    The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The “BabySeq Project” is a randomized trial that explores the medical, behavioral, and economic impacts of integ...

    Authors: Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz…

    Citation: BMC Pediatrics 2018 18:225

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  16. Content type: Case report

    Autoimmune metaplastic atrophic gastritis is a chronic progressive inflammatory condition. The clinical spectrum includes pernicious anemia, atrophic gastritis, antibodies to parietal cell antigens and intrins...

    Authors: Youyou Luo, Jie Chen, Youhong Fang, Jingan Lou and Jindan Yu

    Citation: BMC Pediatrics 2018 18:191

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  17. Content type: Case report

    Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. T...

    Authors: H. Berrani, T. Meskini, M. Zerkaoui, H. Merhni, S. Ettair, A. Sefiani and N. Mouane

    Citation: BMC Pediatrics 2018 18:184

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  18. Content type: Research article

    Ataxia telangiectasia (AT) is a rare, multi-systemic, genetic disorder. Mutations in the ATM gene cause dysfunction in cell-cycle, apoptosis and V (D) J recombination leading to neurodegeneration, cellular, hu...

    Authors: Alexander Krauthammer, Avishay Lahad, Lior Goldberg, Ifat Sarouk, Batia Weiss, Raz Somech, Michalle Soudack and Itai M. Pessach

    Citation: BMC Pediatrics 2018 18:185

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  19. Content type: Research article

    Cerebral palsy is the most frequent motor disability in childhood, but little is known about its etiology. It has been suggested that cerebral palsy risk may be increased by prenatal thyroid hormone disturbanc...

    Authors: Tanja Gram Petersen, Anne-Marie Nybo Andersen, Peter Uldall, Nigel Paneth, Ulla Feldt-Rasmussen, Mette Christophersen Tollånes and Katrine Strandberg-Larsen

    Citation: BMC Pediatrics 2018 18:181

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  20. Content type: Case report

    Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been repor...

    Authors: Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto and Tatsuo Matsunaga

    Citation: BMC Pediatrics 2018 18:171

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  21. Content type: Case report

    Rhabdomyosarcoma (RMS), one of the most common soft tissue sarcomas of childhood, is very rare in the neonatal period (0.4–2% of cases). In order to gain a deeper understanding of this disease at such age, pat...

    Authors: Ida Russo, Virginia Di Paolo, Carmelo Gurnari, Angela Mastronuzzi, Francesca Del Bufalo, Pier Luigi Di Paolo, Angela Di Giannatale, Renata Boldrini and Giuseppe Maria Milano

    Citation: BMC Pediatrics 2018 18:166

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  22. Content type: Research article

    The early stage of embryo development is extremely vulnerable to various teratogenic factors, leading to congenital anomalies. In Ethiopia, a significant number of babies are born with congenital anomalies, bu...

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

    Citation: BMC Pediatrics 2018 18:142

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  23. Content type: Study protocol

    As part of the COAD-study two home-based bimanual training programs for young children with unilateral Cerebral Palsy (uCP) have been developed, both consisting of a preparation phase and a home-based training...

    Authors: Laura Beckers, Jan van der Burg, Yvonne Janssen-Potten, Eugène Rameckers, Pauline Aarts and Rob Smeets

    Citation: BMC Pediatrics 2018 18:141

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  24. Content type: Study protocol

    Home-based training is considered an important intervention in rehabilitation of children with unilateral cerebral palsy. Despite consensus on the value of home-based upper limb training, no evidence-based bes...

    Authors: Marlous Schnackers, Laura Beckers, Yvonne Janssen-Potten, Pauline Aarts, Eugène Rameckers, Jan van der Burg, Imelda de Groot, Rob Smeets, Sander Geurts and Bert Steenbergen

    Citation: BMC Pediatrics 2018 18:139

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  25. Content type: Case report

    4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mu...

    Authors: Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati and Madhulika Kabra

    Citation: BMC Pediatrics 2018 18:126

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  26. Content type: Research article

    Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identific...

    Authors: Eungu Kang, Yoon-Myung Kim, Minji Kang, Sun-Hee Heo, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo and Beom Hee Lee

    Citation: BMC Pediatrics 2018 18:103

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  27. Content type: Research article

    There is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecula...

    Authors: Xiuzhen Li, Tzer Hwu Ting, Huiying Sheng, Cui Li Liang, Yongxian Shao, Minyan Jiang, Aijing Xu, Yunting Lin and Li Liu

    Citation: BMC Pediatrics 2018 18:101

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  28. Content type: Research article

    Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy ...

    Authors: Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D. Schwartz, Maria Marlene de Souza Pires and Têmis Maria Félix

    Citation: BMC Pediatrics 2018 18:95

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  29. Content type: Case report

    In Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible...

    Authors: Alessandra D’Amico, Federica Mazio, Lorenzo Ugga, Renato Cuocolo, Mario Cirillo, Claudia Santoro, Silverio Perrotta, Daniela Melis and Arturo Brunetti

    Citation: BMC Pediatrics 2018 18:91

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  30. Content type: Case report

    Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous backgrou...

    Authors: Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau and Abdelaziz Sefiani

    Citation: BMC Pediatrics 2018 18:90

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    The Correction to this article has been published in BMC Pediatrics 2018 18:138

  31. Content type: Case report

    Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are c...

    Authors: Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek and Katrin Koehler

    Citation: BMC Pediatrics 2018 18:6

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  32. Content type: Case report

    Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic feature...

    Authors: R. Mishra, C. S. Paththinige, N. D. Sirisena, S. Nanayakkara, U. G. I. U. Kariyawasam and V. H. W. Dissanayake

    Citation: BMC Pediatrics 2018 18:4

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  33. Content type: Case report

    Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in a...

    Authors: Shuaimei Liu, Mingchao Zhang, Mengxia Ni, Peiran Zhu and Xinyi Xia

    Citation: BMC Pediatrics 2017 17:217

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  34. Content type: Case report

    Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the gly...

    Authors: Jing Chen, Xiaomin Ma, Yulin Zhou, Guimei Li and Qiwei Guo

    Citation: BMC Pediatrics 2017 17:175

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  35. Content type: Research article

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease. We developed a method to measure reduced glutathione (GSH) and glutathione disulfide (GSSG) ...

    Authors: Zhen-hua Gong, Guo-li Tian, Qi-wei Huang, Yan-min Wang and Hong-ping Xu

    Citation: BMC Pediatrics 2017 17:172

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  36. Content type: Case report

    Thrombocytopenia can occur in different circumstances during childhood and although immune thrombocytopenia is its most frequent cause, it is important to consider other conditions, especially when there is a ...

    Authors: Samuel Souza Medina, Lúcia Helena Siqueira, Marina Pereira Colella, Gabriela Goes Yamaguti-Hayakawa, Bruno Kosa Lino Duarte, Maria Marluce Dos Santos Vilela and Margareth Castro Ozelo

    Citation: BMC Pediatrics 2017 17:151

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  37. Content type: Research article

    With further expansion of the number of conditions for which newborn screening can be undertaken, it is timely to consider the impact of positive screening results and the confirmatory testing period on the fa...

    Authors: Louise Moody, Lou Atkinson, Isher Kehal and James R. Bonham

    Citation: BMC Pediatrics 2017 17:121

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  38. Content type: Research article

    Cleft lip and palate (CLP) is one of the most common birth defects. Multiple factors are believed to be responsible for an unfavorable dental arch relationship in CLP. Facial growth (maxillary) retardation, wh...

    Authors: Sanjida Haque, Mohammad Khursheed Alam and Mohd Fadhli Khamis

    Citation: BMC Pediatrics 2017 17:119

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  39. Content type: Research article

    High level of androgens found in congenital adrenal hyperplasia (CAH) seems to have a deleterious effect on heart function. We therefore evaluate cardiac function of children with CAH in comparison with a heal...

    Authors: J . Tony Nengom, S. Sap Ngo Um, D. Chelo, R. Mbono Betoko, J. Boombhi, F. Mouafo Tambo, A. Chiabi, S. Kingue and P. Koki Ndombo

    Citation: BMC Pediatrics 2017 17:109

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  40. Content type: Case report

    Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) is the second most common heritable autoinflammatory disease, typically presenting in pre-school aged children with fever episodes lasting 1–...

    Authors: Suhas M. Radhakrishna, Amy Grimm and Lori Broderick

    Citation: BMC Pediatrics 2017 17:108

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  41. Content type: Study protocol

    Walking ability is a priority for many children with cerebral palsy (CP) and their parents when considering domains of importance regarding treatment interventions. Partial body-weight supported treadmill trai...

    Authors: C. Ammann-Reiffer, C.H.G. Bastiaenen, A.D. Meyer-Heim and H.J.A. van Hedel

    Citation: BMC Pediatrics 2017 17:64

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  42. Content type: Case report

    The X-linked condition “Aarskog-Scott syndrome (AAS)” causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations...

    Authors: Abdul Rezzak Hamzeh, Fatima Saif, Pratibha Nair, Asma Jassim Binjab, Madiha Mohamed, Mahmoud Taleb Al-Ali and Fatma Bastaki

    Citation: BMC Pediatrics 2017 17:31

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  43. Content type: Research article

    Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accum...

    Authors: Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão and Poli Mara Spritzer

    Citation: BMC Pediatrics 2017 17:22

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  44. Content type: Research article

    Nearly half of the population of Northwest China live in Shaanxi province, but population-based data on the epidemiologic characteristics of congenital heart defects (CHD) in this population is limited. The st...

    Authors: Leilei Pei, Yijun Kang, Yaling Zhao and Hong Yan

    Citation: BMC Pediatrics 2017 17:18

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  45. Content type: Research article

    Ventricular septal defect (VSD) is a highly prevalent fetal congenital heart defect, which can become spontaneously closed during infancy. The current study aims to characterize fetal VSDs that were subsequent...

    Authors: Xing Li, Gui-Xian Song, Li-Jie Wu, Yu-Mei Chen, Yi Fan, Yun Wu, Ya-Hui Shen, Li Cao and Ling-Mei Qian

    Citation: BMC Pediatrics 2016 16:207

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2017 Journal Metrics

  • Citation Impact
    2.042 - 2-year Impact Factor
    2.819 - 5-year Impact Factor
    1.266 - Source Normalized Impact per Paper (SNIP)
    1.278 - SCImago Journal Rank (SJR)


    Social Media Impact
    853 Mentions