Skip to content


Genetics and congenital disorders

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

Page 1 of 2

  1. 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

    Published on:

  2. 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

    Published on:

  3. 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

    Published on:

  4. 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

    Published on:

  5. 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

    Published on:

  6. 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

    Published on:

  7. 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

    Published on:

  8. 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

    Published on:

  9. 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

    Published on:

  10. 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

    Published on:

  11. 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

    Published on:

  12. 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

    Published on:

  13. 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

    Published on:

  14. 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

    Published on:

  15. 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

    Published on:

  16. 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

    Published on:

  17. 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

    Published on:

  18. 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

    Published on:

  19. 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

    Published on:

  20. 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

    Published on:

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

  21. 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

    Published on:

  22. 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

    Published on:

  23. 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

    Published on:

  24. 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

    Published on:

  25. 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

    Published on:

  26. 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

    Published on:

  27. 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

    Published on:

  28. 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

    Published on:

  29. 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

    Published on:

  30. 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

    Published on:

  31. 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

    Published on:

  32. 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

    Published on:

  33. 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

    Published on:

  34. 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

    Published on:

  35. 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

    Published on:

  36. Content type: Research article

    Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis o...

    Authors: Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo and Ken McElreavey

    Citation: BMC Pediatrics 2016 16:195

    Published on:

  37. Content type: Research article

    Niemann-Pick disease Type C (NP-C) is difficult to diagnose due to heterogeneous and nonspecific clinical presentation. The NP-C Suspicion Index (SI) was developed to identify patients with a high likelihood o...

    Authors: Mercedes Pineda, Eugen Mengel, Helena Jahnová, Bénédicte Héron, Jackie Imrie, Charles M. Lourenço, Vanessa van der Linden, Parvaneh Karimzadeh, Vassili Valayannopoulos, Pavel Jesina, Juan V. Torres and Stefan A. Kolb

    Citation: BMC Pediatrics 2016 16:107

    Published on:

  38. Content type: Case report

    GM2 gangliosidosis-AB variants a rare autosomal recessive neurodegenerative disorder occurring due to deficiency of GM2 activator protein resulting from the mutation in GM2A gene. Only seven mutations in nine cas...

    Authors: Jayesh Sheth, Chaitanya Datar, Mehul Mistri, Riddhi Bhavsar, Frenny Sheth and Krati Shah

    Citation: BMC Pediatrics 2016 16:88

    Published on:

  39. Content type: Case report

    Kawasaki disease is an acute, febrile, self-limiting, inflammatory systemic vasculitis seen in early childhood, most commonly in those below 5 years of age. In Kawasaki disease, the coronary arteries are most ...

    Authors: Chia-Pei Chou, I-Chun Lin and Kuang-Che Kuo

    Citation: BMC Pediatrics 2016 16:71

    Published on:

  40. Content type: Study protocol

    Upper limb orthoses are frequently prescribed for children with cerebral palsy (CP) who have muscle overactivity predominantly due to spasticity, with little evidence of long-term effectiveness. Clinical conse...

    Authors: Christine Imms, Margaret Wallen, Catherine Elliott, Brian Hoare, Melinda Randall, Susan Greaves, Brooke Adair, Elizabeth Bradshaw, Rob Carter, Francesca Orsini, Sophy T. F. Shih and Dinah Reddihough

    Citation: BMC Pediatrics 2016 16:70

    Published on:

  41. Content type: Research article

    Phenytoin, mainly metabolized by cytochrome P450 enzyme system, has a narrow therapeutic index and may have adverse effects due to inter-individual variation in the dose requirement and genetic polymorphisms. ...

    Authors: Nagendra Chaudhary, Madhulika Kabra, Sheffali Gulati, Yogendra Kumar Gupta, Ravindra Mohan Pandey and Bal Dev Bhatia

    Citation: BMC Pediatrics 2016 16:66

    Published on:

  42. Content type: Case report

    Marfan syndrome (MFS) is a heritable disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1). Neonatal Marfan syndrome (nMFS) is rare and the most severe form of MFS, invol...

    Authors: Qian Peng, Yan Deng, Yuan Yang and Hanmin Liu

    Citation: BMC Pediatrics 2016 16:60

    Published on:

  43. Content type: Research article

    Autism spectrum disorder (ASD) is a common neurodevelopmental disorder that lacks adequate screening tools, often delaying diagnosis and therapeutic interventions. Despite a substantial genetic component, no s...

    Authors: Steven D. Hicks, Cherry Ignacio, Karen Gentile and Frank A. Middleton

    Citation: BMC Pediatrics 2016 16:52

    Published on:

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