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BMC Pediatrics

Genetics and congenital disorders

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

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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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

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  14. 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

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  15. 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

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  16. 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

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  17. 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

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