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Irish Child Health Database - Peer Reviewed Papers

Database Search

How to use this database.

• Method 1- uses a free natural language approach.

  After choosing the object of the search – by ticking title, abstract, aims and objective, or author - enter a term, word or name in the ‘Search’ box to return references answering your research question.

• Method 2 - utilises key words.

  Those key words assigned from thesauruses of controlled vocabulary by the trained coders of international bibliographic databases.
  The controlled vocabularies key word are listed alphanumerically under 'Bibliographic database keywords' .
  Use the drop down menu to identity which 'key words' you are interested in to return references to answer your research question.

• Method 3 - is based on the indexing system

  developed by the researchers who compiled this database.
  It adopts a thematic approach to mapping Irish child health research. The themed areas represent outcomes mapped to the International Classification of Disease version 10 (ICD-10) or one of 23 other health-related themed outcomes. Themes are defined in Tables 5 to 7 (of the study report).
  Use the alphabetic drop down menu under ‘ICD-10 or themed health-related outcomes’ to identity which themed areas you are interested in to select references to answer your research question.

• Method 4 – allows papers to be searched by Study type.

  Indexing by study type offers a valuable insight into understanding the population impact of the topic of interest. More than 20 study types were identified across the 2,152 study papers. These are defined in Table 3 (of the study report). Within 'Study type' papers are further stratification by geographical region (Table 49), topic area of interest and study aims and objectives.
  Click on 'Study type' to select the type of study of interest, progressively select sub-categories by topic area or other sub-classification of interest to answer your research question.

The complete background, methods and findings from this mapping exercise are detailed in the study report.

Abnormalities, Multiple

Your search returns 9 documents

• 1.   Antley-Bixler syndrome with radioulnar synostosis

  This case report discusses a newborn boy with Antley-Bixler syndrome, is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis

  

  Abstract:

  This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has more...

  International Classification:

  Syndrome

  Categories:

  Antley-Bixler syndrome

  Geography:

  Republic of Ireland

  Pediatr Radiol, Vol: 34 Page: 148-51 February 2004
  M. E. Hurley; M. J. White; A. J. Green; J. Kelleher

  [Preview] [Read]

• 2.   Asplenia in ATR-X syndrome: a second report

  These case reports discuss a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus

  

  Abstract:

  Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Report

  Categories:

  mental retardation - genetic

  Geography:

  Republic of Ireland

  Am J Med Genet A, Vol: 139 Page: 37-9 November 2005
  R. T. Leahy; R. K. Philip; R. J. Gibbons; C. Fisher; M. Suri; W. Reardon

  [Preview] [Read]

• 3.   Characterization of optical coherence topography findings in Kenny-Caffey syndrome

  These case reports discuss two cases of Kenny-Caffey syndrome with an ellipsoid macular fold orientated horizontally involving the fovea and document this unusual feature with optical coherence topography

  

  Abstract:

  An unusual congenital syndrome was first reported in 1966 by Kenny and Linarelli, who described two patients with dwarfism, cortical thickening of the long bones, transient hypocalcemia, and normal intelligence,(1) the radiological features in the condition being reported by Caffey.(2) The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic more...

  International Classification:

  Syndrome

  Categories:

  Kenny-Caffey syndrome

  Geography:

  Republic of Ireland

  J Aapos, Vol: 11 Page: 291-3 June 2007
  P. Timoney; F. Darcy; K. McCreery; W. Reardon; D. Brosnahan

  [Preview] [Read]

• 4.   Giant left atrial appendage with a common ventricular-appendicular wall and an abnormal course of the circumflex coronary artery in an asymptomatic 18-month-old girl

  This case report discuss giant left atrial appendage with a common ventricular-appendicular wall and an abnormal course of the circumflex coronary artery in an asymptomatic 18-month-old girl

  

  Abstract:

  We present a congenital giant left atrial appendage in an asymptomatic 18-month-old girl featuring two morphological aspects not yet described, namely, a common wall between the giant left atrial appendage and the left ventricle and an abnormal course of the circumflex coronary artery across the surface of the grossly dilated left atrial appendage which prohibited its radical resection. more...

  International Classification:

  Diseases of the circulatory system - Report

  Categories:

  coronary artery

  Geography:

  Republic of Ireland

  Pediatr Cardiol, Vol: 29 Page: 431-3 March 2008
  A. Dumitrescu; K. P. Walsh; A. E. Wood

  [Preview] [Read]

• 5.   Impossible laryngeal intubation in an infant with Fraser syndrome

  This case report discusses a case of an infant with Fraser syndrome who required a surgical airway because of a severe stenosis of her airway secondary to a glottic web

  

  Abstract:

  Congenital webbing of the vocal cords is rare, and is usually incompatible with life. We report a case of an infant with Fraser syndrome who required a surgical airway because of a severe stenosis of her airway secondary to a glottic web. The decision process leading to tracheostomy in this neonate is described. The pertinent features of Fraser syndrome in relation to airway management more...

  International Classification:

  Syndrome

  Categories:

  Fraser syndrome

  Geography:

  Republic of Ireland

  Paediatr Anaesth, Vol: 14 Page: 276-8 March 2004
  S. Crowe; A. Westbrook; M. Bourke; B. Lyons; J. Russell

  [Preview] [Read]

• 6.   Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome

  This case report discusses a case of successful renal transplantation in a child with Kabuki syndrome

  

  Abstract:

  We report a case of successful renal transplantation in a child with Kabuki syndrome. We discuss the potential problems that might be encountered following kidney transplantation in children with Kabuki syndrome, and the management of these problems. We conclude that kidney transplantation is a feasible and appropriate treatment option for renal impairment in children with this syndrome. more...

  International Classification:

  Syndrome

  Categories:

  renal transplantation; Kabuki syndrome

  Geography:

  Republic of Ireland

  Pediatr Transplant, Vol: 10 Page: 105-7 February 2006
  M. Hamdi Kamel; B. Gilmartin; P. Mohan; D. P. Hickey

  [Preview] [Read]

• 7.   The KBG syndrome, characteristic dental findings: a case report

  This case report discusses a case of 7-year-old girl presented with the non-specific findings of subtle dysmorphism, short stature and developmental delay

  

  Abstract:

  Short stature and developmental delay may be observed in many genetic conditions and well-defined syndromes. A 7-year-old girl presented with the non-specific findings of subtle dysmorphism, short stature and developmental delay. Although a genetic syndrome was suspected, a definitive diagnosis was not made until the dental findings of KBG syndrome were recognised, namely grossly more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Report

  Categories:

  dysmorphism

  Geography:

  Republic of Ireland

  Int J Paediatr Dent, Vol: 11 Page: 131-4 March 2001
  P. A. Dowling; P. Fleming; R. J. Gorlin; M. King; N. C. Nevin; M. McEntagart

  [Preview] [Read]

• 8.   The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome

  The aim of this study was to examine prevalence and forms of congenital cardiac malformations in six children with Kabuki syndrome

  

  Abstract:

  We investigated the prevalence and forms of congenital cardiac malformations in six children with Kabuki syndrome. There were three girls and three boys, diagnosed at a median age of 1.7 years, with a range from 0.7 to 11.1 years. Cardiac lesions were present in five children (83%), specifically complete transposition, tetralogy of Fallot, coarctation of the aorta, ventricular septal more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Other congenital malformations - Kabuki syndrome

  Categories:

  congenital cardiac malformations; Kabuki syndrome

  Geography:

  Republic of Ireland

  Cardiol Young, Vol: 16 Page: 30-3 February 2006
  C. J. McMahon; W. Reardon

  [Preview] [Read]

• 9.   The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome

  The aim of this study was to examine the prevalence and forms of congenital cardiac malformations in six children with Kabuki syndrome

  

  Abstract:

  We investigated the prevalence and forms of congenital cardiac malformations in six children with Kabuki syndrome. There were three girls and three boys, diagnosed at a median age of 1.7 years, with a range from 0.7 to 11.1 years. Cardiac lesions were present in five children (83%), specifically complete transposition, tetralogy of Fallot, coarctation of the aorta, ventricular septal more...

  International Classification:

  Syndrome - Kabuki

  Categories:

  congenital cardiac malformations; Kabuki syndrome

  Geography:

  Republic of Ireland

  Cardiol Young, Vol: 16 Page: 30-3 February 2006
  C. J. McMahon; W. Reardon

  [Preview] [Read]