Genetics and congenital disorders

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

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  1. Case report

    Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein

    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 ...

    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

    BMC Pediatrics 2017 17:151

    Published on: 22 June 2017

  2. Research article

    Healthcare professionals’ and parents’ experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot

    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...

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

    BMC Pediatrics 2017 17:121

    Published on: 8 May 2017

  3. Research article

    The effect of various factors on the dental arch relationship in non-syndromic unilateral cleft lip and palate children assessed by new approach: a retrospective study

    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...

    Sanjida Haque, Mohammad Khursheed Alam and Mohd Fadhli Khamis

    BMC Pediatrics 2017 17:119

    Published on: 6 May 2017

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

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