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This section considers studies of genetic and congenital disorders in children and adolescents.
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...
BMC Pediatrics 2017 17:175
Published on: 24 July 2017
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) ...
BMC Pediatrics 2017 17:172
Published on: 20 July 2017
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 ...
BMC Pediatrics 2017 17:151
Published on: 22 June 2017
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...
BMC Pediatrics 2017 17:121
Published on: 8 May 2017
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...
BMC Pediatrics 2017 17:119
Published on: 6 May 2017
Research article
Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).
BMC Pediatrics 2017 17:117
Published on: 4 May 2017
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...
BMC Pediatrics 2017 17:109
Published on: 20 April 2017
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–...
BMC Pediatrics 2017 17:108
Published on: 20 April 2017
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...
BMC Pediatrics 2017 17:64
Published on: 2 March 2017
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...
BMC Pediatrics 2017 17:31
Published on: 19 January 2017
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...
BMC Pediatrics 2017 17:22
Published on: 17 January 2017
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...
BMC Pediatrics 2017 17:18
Published on: 13 January 2017
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...
BMC Pediatrics 2016 16:207
Published on: 8 December 2016
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...
BMC Pediatrics 2016 16:195
Published on: 29 November 2016
Case report
Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, ...
BMC Pediatrics 2016 16:194
Published on: 29 November 2016
Research article
Prader-Willi syndrome is a rare genetic abnormality that can be challenging to diagnose early, but for which early interventions improve prognosis.
BMC Pediatrics 2016 16:124
Published on: 9 August 2016
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...
BMC Pediatrics 2016 16:107
Published on: 22 July 2016
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...
BMC Pediatrics 2016 16:88
Published on: 11 July 2016
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 ...
BMC Pediatrics 2016 16:71
Published on: 28 May 2016
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...
BMC Pediatrics 2016 16:70
Published on: 27 May 2016
