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Genetics and congenital disorders

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

Page 5 of 5

  1. Wolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion...

    Authors: Amy Farmer, Ségolène Aymé, Miguel Lopez de Heredia, Pietro Maffei, Susan McCafferty, Wojciech Młynarski, Virginia Nunes, Kay Parkinson, Véronique Paquis-Flucklinger, Julia Rohayem, Richard Sinnott, Vallo Tillmann, Lisbeth Tranebjærg and Timothy G Barrett

    Citation: BMC Pediatrics 2013 13:130

    Content type: Correspondence

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  2. Intramuscular injection of botulinum toxin type-A given by manual intramuscular needle placement in the lower extremity under general anaesthesia is an established treatment and standard of care in managing sp...

    Authors: Jessica Warnink-Kavelaars, Roland Jeroen Vermeulen and Jules Guilhelmus Becher

    Citation: BMC Pediatrics 2013 13:129

    Content type: Study protocol

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  3. Idiopathic infantile arterial calcification (IIAC) is a rare autosomal recessive disorder, characterized by wide spread calcifications in arterial walls, leading to vaso-occlusive ischaemia of multiple organs....

    Authors: Huma Shaireen, Alexandra Howlett, Harish Amin, Kamran Yusuf, Majeeda Kamaluddeen and Abhay Lodha

    Citation: BMC Pediatrics 2013 13:107

    Content type: Case report

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  4. Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature o...

    Authors: Monika Obara-Moszynska, Jaroslaw Maceluch, Waldemar Bobkowski, Artur Baszko, Oskar Jaremba, Maciej R Krawczynski and Marek Niedziela

    Citation: BMC Pediatrics 2013 13:27

    Content type: Case report

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  5. Polydactyly represents a heterogeneous group of congenital hand and foot anomalies with variable clinical features and diverse etiology. Preaxial polydactyly type I (PPD1) is the most frequent form of preaxial...

    Authors: Anna Materna-Kiryluk, Aleksander Jamsheer, Katarzyna Wisniewska, Barbara Wieckowska, Janusz Limon, Maria Borszewska-Kornacka, Henryka Sawulicka-Oleszczuk, Ewa Szwalkiewicz-Warowicka and Anna Latos-Bielenska

    Citation: BMC Pediatrics 2013 13:26

    Content type: Research article

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  6. The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes dis...

    Authors: Gregorio León-García, Alfredo Santana, Nicolás Villegas-Sepúlveda, Concepción Pérez-González, José M Henrríquez-Esquíroz, Carlota de León-García, Carlos Wong and Isabel Baeza

    Citation: BMC Pediatrics 2012 12:150

    Content type: Case report

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  7. Birth Defects are a series of diseases that seriously affect children's health. Birth defects are generally caused by several interrelated factors. The aims of the article is to estimate the prevalence rate an...

    Authors: Xingguang Zhang, Su Li, Siqintuya Wu, Xiaojin Hao, Shuyi Guo, Kota Suzuki, Hiroshi Yokomichi and Zentaro Yamagata

    Citation: BMC Pediatrics 2012 12:125

    Content type: Research article

    Published on: