Genetics and congenital disorders

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

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  1. Research article

    Assessment of cardiac function in children with congenital adrenal hyperplasia: a case control study in Cameroon

    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...

    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

    BMC Pediatrics 2017 17:109

    Published on: 20 April 2017

  2. Study protocol

    Effectiveness of robot-assisted gait training in children with cerebral palsy: a bicenter, pragmatic, randomized, cross-over trial (PeLoGAIT)

    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...

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

    BMC Pediatrics 2017 17:64

    Published on: 2 March 2017

  3. Case report

    A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

    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...

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

    BMC Pediatrics 2017 17:31

    Published on: 19 January 2017

  4. Research article

    Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

    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...

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

    BMC Pediatrics 2017 17:22

    Published on: 17 January 2017

  5. Research article

    Prevalence and risk factors of congenital heart defects among live births: a population-based cross-sectional survey in Shaanxi province, Northwestern China

    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...

    Leilei Pei, Yijun Kang, Yaling Zhao and Hong Yan

    BMC Pediatrics 2017 17:18

    Published on: 13 January 2017

  6. Research article

    Prediction of spontaneous closure of isolated ventricular septal defects in utero and postnatal life

    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...

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

    BMC Pediatrics 2016 16:207

    Published on: 8 December 2016

  7. Research article

    Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

    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...

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

    BMC Pediatrics 2016 16:195

    Published on: 29 November 2016

  8. Research article

    A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

    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...

    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

    BMC Pediatrics 2016 16:107

    Published on: 22 July 2016

  9. Case report

    A male infant had subdural effusion and paroxysmal supraventricular tachycardia during the febrile episode of Kawasaki disease: a case report and literature review

    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 ...

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

    BMC Pediatrics 2016 16:71

    Published on: 28 May 2016

  10. Study protocol

    Minimising impairment: Protocol for a multicentre randomised controlled trial of upper limb orthoses for children with cerebral palsy

    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...

    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

    BMC Pediatrics 2016 16:70

    Published on: 27 May 2016

  11. Research article

    Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy

    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. ...

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

    BMC Pediatrics 2016 16:66

    Published on: 14 May 2016

  12. Research article

    Salivary miRNA profiles identify children with autism spectrum disorder, correlate with adaptive behavior, and implicate ASD candidate genes involved in neurodevelopment

    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...

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

    BMC Pediatrics 2016 16:52

    Published on: 22 April 2016

  13. Case report

    Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome

    Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS...

    Daniel Landau, Harry J. Hirsch and Varda Gross-Tsur

    BMC Pediatrics 2016 16:28

    Published on: 18 February 2016

  14. Research article

    Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone

    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...

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

    BMC Pediatrics 2016 16:24

    Published on: 2 February 2016

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