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Genetics and congenital disorders

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

Page 4 of 5

  1. 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

    Content type: Case report

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  2. 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

    Content type: Case report

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  3. 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

    Content type: Case report

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  4. 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

    Content type: Case report

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  5. 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

    Content type: Research article

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  6. 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

    Content type: Case report

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  7. 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

    Content type: Research article

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  8. 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

    Content type: Research article

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  9. 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

    Content type: Research article

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  10. 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

    Content type: Case report

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  11. 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

    Content type: Study protocol

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  12. 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

    Content type: Case report

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  13. 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

    Content type: Research article

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  14. 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

    Content type: Research article

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  15. 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

    Content type: Research article

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  16. 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

    Content type: Research article

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  17. 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

    Content type: Research article

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  18. 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

    Content type: Case report

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  19. 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

    Content type: Case report

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  20. 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

    Content type: Study protocol

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  21. 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

    Content type: Research article

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  22. 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

    Content type: Case report

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  23. 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

    Content type: Research article

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  24. In thyroid-stimulating-hormone (TSH)-based newborn congenital hypothyroidism (CH) screening programs, the optimal screening-TSH cutoff level is critical to ensuring that true cases of CH are not missed. Screen...

    Authors: David S. Saleh, Sarah Lawrence, Michael T. Geraghty, Patricia H. Gallego, Karen McAssey, Diane K. Wherrett and Pranesh Chakraborty

    Citation: BMC Pediatrics 2016 16:24

    Content type: Research article

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  25. It has been demonstrated that glucose transporter (GLUT1) deficiency in a mouse model causes a diminished cerebral lipid synthesis. This deficient lipid biosynthesis could contribute to secondary CoQ deficienc...

    Authors: Delia Yubero, Mar O’Callaghan, Raquel Montero, Aida Ormazabal, Judith Armstrong, Carmina Espinos, Maria A Rodríguez, Cristina Jou, Esperanza Castejon, Maria A Aracil, Maria V Cascajo, Angela Gavilan, Paz Briones, Cecilia Jimenez-Mallebrera, Mercedes Pineda, Plácido Navas…

    Citation: BMC Pediatrics 2014 14:284

    Content type: Case report

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  26. No expert consensus guides practice for intensity of ongoing pediatric cardiology surveillance of hemodynamically insignificant small and moderate muscular ventricular septal defect (mVSD). Therefore, despite ...

    Authors: Erik L Frandsen, Aswathy V House, Yunbin Xiao, David A Danford and Shelby Kutty

    Citation: BMC Pediatrics 2014 14:282

    Content type: Research article

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  27. The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1 (UGT1A1), for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with unconjugated ...

    Authors: Bixia Zheng, Guorui Hu, Jin Yu and Zhifeng Liu

    Citation: BMC Pediatrics 2014 14:267

    Content type: Case report

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  28. X-linked agammaglobulinemia (XLA) is a rare inherited disease characterized by recurrent bacterial infections, a paucity or absence of peripheral lymphoid tissue, an absence of circulating B cells, and marked ...

    Authors: Bixia Zheng, Yayuan Zhang, Yu Jin and Haiguo Yu

    Citation: BMC Pediatrics 2014 14:265

    Content type: Case report

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  29. Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, crani...

    Authors: Di-Qing Luo, Xiao-Zhu Wang, Yan Meng, Ding-Yang He, Ying-Ming Chen, Zhi-Yong Ke, Ming Yan, Yu Huang and Da-Fang Chen

    Citation: BMC Pediatrics 2014 14:256

    Content type: Case report

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  30. Thyroid hormone is crucial in the development of different organs, particularly the brain. MCT8 is a specific transporter of triiodothyronine (T3) hormone and MCT8 gene mutations cause a rare X-linked disorder na...

    Authors: Filipa Rodrigues, Joana Grenha, Carlos Ortez, Andrés Nascimento, Beatriz Morte, Monica M-Belinchón, Judith Armstrong and Jaume Colomer

    Citation: BMC Pediatrics 2014 14:252

    Content type: Case report

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  31. Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late chi...

    Authors: Karim Bouchireb, Olivia Boyer, Lamisse Mansour-Hendili, Arnaud Garnier, Laurence Heidet, Patrick Niaudet, Remi Salomon and Rosa Vargas Poussou

    Citation: BMC Pediatrics 2014 14:201

    Content type: Case report

    Published on:

  32. Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cel...

    Authors: Paul C Johannesma, Ben EEM van den Borne, Johannes JP Gille, Ad F Nagelkerke, JanHein TM van Waesberghe, Marinus A Paul, R Jeroen A van Moorselaar, Fred H Menko and Pieter E Postmus

    Citation: BMC Pediatrics 2014 14:171

    Content type: Case report

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  33. Previous studies on the mortality rate of omphalocele are limited. The risk of death of non-isolated omphalocele and that of cases of omphalocele that are diagnosed prenatally by ultrasound are unclear. This s...

    Authors: Kui Deng, Jie Qiu, Li Dai, Ling Yi, Changfei Deng, Yi Mu and Jun Zhu

    Citation: BMC Pediatrics 2014 14:160

    Content type: Research article

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  34. X-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is cause...

    Authors: Quang Van Vu, Taizo Wada, Huong Thi Minh Le, Hai Thanh Le, Anh Thi Van Nguyen, Ohara Osamu, Akihiro Yachie and Sang Ngoc Nguyen

    Citation: BMC Pediatrics 2014 14:129

    Content type: Research article

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  35. Williams syndrome (WS) is a neurodevelopmental disease characterized by compelling psychological phenotypes. The symptoms span multiple cognitive domains and include a distinctive pattern of social behavior. T...

    Authors: Chai Ji, Dan Yao, Weijun Chen, Mingyan Li and Zhengyan Zhao

    Citation: BMC Pediatrics 2014 14:90

    Content type: Research article

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  36. Childhood obesity and early puberty are intermediate risk factors for later metabolic and reproductive disorders including diabetes, polycystic ovarian syndrome (PCOS), and breast cancer. Atypical methylation ...

    Authors: Theresa Ryan Stueve, Mary S Wolff, Ashley Pajak, Susan L Teitelbaum and Jia Chen

    Citation: BMC Pediatrics 2014 14:78

    Content type: Research article

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  37. Idiopathic renal hypouricemia (iRHUC) is an autosomal recessive hereditary disorder, characterized by impaired tubular uric acid transport, re-absorption insufficiency and/or the acceleration of secretions. So...

    Authors: Huijun Shen, Chunyue Feng, Xia Jin, Jianhua Mao, Haidong Fu, Weizhong Gu, Ai’min Liu, Qiang Shu and Lizhong Du

    Citation: BMC Pediatrics 2014 14:73

    Content type: Case report

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  38. Diabetes mellitus may be present in patients with cystic fibrosis starting in the second decade of life. The prevalence increases rapidly with increasing age. As life-expectancy increases in cystic fibrosis, c...

    Authors: Manfred Ballmann, Dominique Hubert, Barouk M Assael, Kai Kronfeld, Marguerite Honer and Reinhard W Holl

    Citation: BMC Pediatrics 2014 14:70

    Content type: Study protocol

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  39. Cerebral palsy is the most common cause of physical disability in childhood. Spasticity is a significant contributor to the secondary impairments impacting functional performance and participation. The most co...

    Authors: Rachel E Thomas, Leanne M Johnston, Roslyn N Boyd, Leanne Sakzewski and Megan J Kentish

    Citation: BMC Pediatrics 2014 14:35

    Content type: Study protocol

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  40. In term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations ...

    Authors: Alexander Puzik, Deborah J Morris-Rosendahl, Klaus-Dieter Rückauer, Claudia Otto, Peter Gessler, Ulrich Saueressig and Roland Hentschel

    Citation: BMC Pediatrics 2014 14:13

    Content type: Case report

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  41. Dopamine receptors are involved in midbrain reward circuit activation. Polymorphisms in two dopamine receptor genes, DRD2 and DRD4, have been associated with altered perception of food reward and weight gain. The...

    Authors: Christian L Roth, Anke Hinney, Ellen A Schur, Clinton T Elfers and Thomas Reinehr

    Citation: BMC Pediatrics 2013 13:197

    Content type: Research article

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  42. Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous disorder characterised by non-progressive multiple intra-articular contractures, which can be recognised at birth. The frequency is e...

    Authors: Anna Binkiewicz-Glinska, Agnieszka Sobierajska-Rek, Stanislaw Bakula, Jolanta Wierzba, Konrad Drewek, Ireneusz M Kowalski and Katarzyna Zaborowska-Sapeta

    Citation: BMC Pediatrics 2013 13:184

    Content type: Case report

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  43. Fetal alcohol spectrum disorders (FASD) are underdiagnosed in Australia, and health professionals have endorsed the need for national guidelines for diagnosis. The aim of this study was to develop consensus re...

    Authors: Rochelle E Watkins, Elizabeth J Elliott, Amanda Wilkins, Raewyn C Mutch, James P Fitzpatrick, Janet M Payne, Colleen M O’Leary, Heather M Jones, Jane Latimer, Lorian Hayes, Jane Halliday, Heather D’Antoine, Sue Miers, Elizabeth Russell, Lucinda Burns, Anne McKenzie…

    Citation: BMC Pediatrics 2013 13:156

    Content type: Research article

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