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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » A » Abnormalities, Multiple

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

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

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  • 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

    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

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  • 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

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

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  • 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

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

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  • 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

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

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  • 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

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

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  • 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

    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

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  • 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

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

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  • 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

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

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