Irish Child Health Database - Peer Reviewed Papers
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Syndrome
Your search returns 42 documents
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This study aimed to explore findings of a national survey of propofol infusion use by paediatric anaesthetists in Great Britain and Ireland
Abstract:
BACKGROUND: Since the introduction of propofol in 1977, it has been widely used for the induction and maintenance of anaesthesia and for sedation on the intensive care unit. Recently, case reports of suspected propofol infusion syndrome (PRIS) following short term infusions have been published. We set out to obtain a picture of the current use of propofol infusions by paediatric more...
International Classification:
Practice/knowledge - propofol infusion
Categories:
propofol infusion;
Geography:
Republic of Ireland and the United Kingdom
Paediatr Anaesth,
Vol: 18 Page: 488-93 June 2008
M. Hill; W. Peat; S. Courtman
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The aim of this study was to test the hypothesis that Shh-expressing ectopic notochord could contribute to an increased volume of notochord relative to total embryo volume, resulting in an increased concentration of Shh in the notochord of embryos
Abstract:
BACKGROUND/PURPOSE: The Adriamycin rat model (ARM) is a well-established model of the Vertebral, Anorectal, Cardiac, Tracheoesophageal, Renal, Limb (VACTERL) association. The notochord, which expresses Sonic Hedgehog (Shh), has been found to be grossly malformed with ventral ectopic branches in the foregut region of embryos in the ARM. The authors designed this study to test the more...
Categories:
Shh-expressing ectopic notochord; total embryo volume
Geography:
Republic of Ireland
J Pediatr Surg,
Vol: 39 Page: 859-63 June 2004
A. Mortell; A. M. O'Donnell; S. Giles; J. Bannigan; P. Puri
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The aim of study was to examine the expression of contractile and cytoskeleton proteins in smooth muscle contractile and distribution of interstitial cells of Cajal in megacystis microcolon intestinal hypoperistalsis syndrome bowel.
Abstract:
BACKGROUND/PURPOSE: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by decreased or absent peristalsis. Gastrointestinal motility depends on the enteric nervous system, smooth muscle cells (SMCs), and the interstitial cells of Cajal (ICCs). Contractile and cytoskeleton proteinase are important structural and functional components of SMCs. The aim of more...
International Classification:
Syndrome - megacystis microcolon intestinal hypoperistalsis
Categories:
smooth muscle contractile; -megacystis microcolon intestinal hypoperistalsis syndrome
Geography:
Republic of Ireland
J Pediatr Surg,
Vol: 38 Page: 749-55 May 2003
A. P. Piotrowska; U. Rolle; B. Chertin; D. De Caluwe; A. Bianchi; P. Puri
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This case report discusses a case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome.
Abstract:
A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome. more...
International Classification:
Syndrome
Categories:
Jacobsen syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 16 Page: 177-9 July 2007
P. Foley; F. McAuliffe; M. Mullarkey; W. Reardon
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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
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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
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The aim of this study was to describe behavioural characteristics and autistic features in individuals with Coen Syndrome
Abstract:
Diagnostic criteria for Cohen Syndrome are based largely on physical characteristics, and systematic information about behaviour and social functioning is limited. Typically, individuals with this condition are described as being very sociable and as showing low rates of pathology. However, recent studies have indicated that behavioural difficulties may occur more frequently than more...
International Classification:
Syndrome - Coen
Categories:
Coen Syndrome
Geography:
International
Eur Child Adolesc Psychiatry,
Vol: 14 Page: 57-64 March 2005
P. Howlin; J. Karpf; J. Turk
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This study analysed the elective MR scans of the lumbosacral spine with findings that Bertolotti's syndrome is a major cause of back pain in young people
Abstract:
Bertolotti's syndrome is characterised by anomalous enlargement of the transverse process(es) of the most caudal lumbar vertebra which may articulate or fuse with the sacrum or ilium and cause isolated L4/5 disc disease. We analysed the elective MR scans of the lumbosacral spine of 769 consecutive patients with low back pain taken between July 2003 and November 2004. Of these 568 showed more...
International Classification:
Syndrome - Bertolotti's
Categories:
Bertolotti's syndrome
Geography:
Republic of Ireland
J Bone Joint Surg Br,
Vol: 88 Page: 1183-6 September 2006
J. F. Quinlan; D. Duke; S. Eustace
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This case report discusses a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling
Abstract:
Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental delay. A specific clinical clue to this infrequently diagnosed disorder is hypoplasia of the terminal phalanx of the fifth finger with an abnormal nail, occasionally extending onto the volar surface. Ocular manifestations of the more...
International Classification:
Diseases of the eye and adnexa - Report
Categories:
asymptomatic bilateral disk swelling
Geography:
Republic of Ireland
J Aapos,
Vol: 11 Page: 516-8 October 2007
P. Connell; D. Brosnahan; A. Dunlop; W. Reardon
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The aim of this study was to examine the prevalence of birth cleft lip and palate in Northern Ireland for the 20-year period 1981 to 2000, to determine the pattern of prevalence, and to report the proportion of different cleft types and sex distribution
Abstract:
OBJECTIVE: The prevalence of cleft lip and/or palate (CL/P) in Northern Ireland (NI) was last reported for 1980 through 1990. This study was undertaken to update the prevalence of CL/P in NI for the 20-year period 1981 to 2000, to determine the pattern of prevalence, and to report the proportion of different cleft types and sex distribution. DESIGN: Retrospective, population-based more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Cleft lip and cleft palate - Cleft lip and/or palate
Categories:
birth cleft lip; cleft palate
Geography:
Northern Ireland
Cleft Palate Craniofac J,
Vol: 45 Page: 141-7 March 2008
T. A. Gregg; A. G. Leonard; C. Hayden; K. E. Howard; C. F. Coyle
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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
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This case report discusses a case of choanal atresia - a recurrent feature of foetal carbimazole syndrome
Abstract:
Choanal atresia is described as a feature of several congenital anomaly phenotypes. Most cases of choanal atresia arises as an isolated clinical finding. In utero exposure to carbimazole for maternal hyperthyroidism has been reported in five cases of choanal atresia. We report another instance of this teratogenic cause of choanal atresia. Maternal drug history is an important aspect of more...
International Classification:
Syndrome
Categories:
Foetal carbimazole syndrome
Geography:
Republic of Ireland
Clin Otolaryngol,
Vol: 30 Page: 375-7 August 2005
A. K. Myers; W. Reardon
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This case report discusses a 1-day-old baby girl with a cleft of the secondary palate and a soft tissue band connecting the upper and lower jaws and preventing mouth opening
Abstract:
OBJECTIVE: A 1-day-old baby girl with a cleft of the secondary palate and a soft tissue band connecting the upper and lower jaws and preventing mouth opening was referred to the cleft lip and palate team by her pediatrician. This case represents a further example of an interesting but rare anomaly known as congenital alveolar synechia syndrome that requires early management to allow more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
cleft palate
Geography:
Republic of Ireland
Cleft Palate Craniofac J,
Vol: 41 Page: 206-7 March 2004
S. M. Murphy; S. Rea; E. McGovern; P. Fleming; D. Orr
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This case report discusses clinical and molecular findings in IPEX syndrome
Abstract:
IPEX (immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome) is a rare disorder which usually results in death in early infancy or childhood. Clinical awareness remains the cornerstone of diagnosis, and provided that the diagnosis is entertained, mutation analysis for FOXP3 gene mutations can be confirmatory. Two new patients in whom IPEX was diagnosed retrospectively more...
International Classification:
Syndrome
Categories:
IPEX syndrome
Geography:
Republic of Ireland
Arch Dis Child,
Vol: 91 Page: 63-4 January 2006
A. K. Myers; L. Perroni; C. Costigan; W. Reardon
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These case reports discuss two unrelated patients with features of cranio-osteoarthropathy, both of whom also had a history of congenital heart disease
Abstract:
Cranio-osteoarthropathy is a rare condition. Classically, signs are identifiable in infancy with clubbing of fingers, and delayed closure of the clinically enlarged cranial sutures, followed by periosteal new bone formation on X-rays of the long bones. Ultimately, joint swelling and stiffness follow, typically involving the large joints. We report two unrelated patients with features of more...
International Classification:
Diseases of the musculoskeletal system and connective tissue - cranio-osteoarthropathy
Categories:
cranio-osteoarthropathy
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 13 Page: 213-9 October 2004
S. O'Connell; M. Suri; D. Duff; J. Kelleher; C. M. Hall; W. Reardon
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This case report discusses a case of Diencephalic cachexia of infancy
International Classification:
Syndrome
Categories:
Diencephalic cachexia
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 15 Page: 253-4 October 2006
A. M. Murphy; B. Drumm; C. Brenner; S. A. Lynch
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This study investigated what proportion of autosomal recessive condition characterized by deafness and goitre were due to mutation of the Pendred syndrome gene
Abstract:
Although the textbook view of Pendred syndrome is that of an autosomal recessive condition characterized by deafness and goitre, it is increasingly clear that not all such patients present this classical clinical picture. Malformations of the inner ear, specifically enlargement of the vestibular aqueduct, are common in Pendred syndrome and mutations in the PDS (Pendred Syndrome) gene more...
International Classification:
Syndrome - Pendred
Categories:
Pendred syndrome
Geography:
Republic of Ireland and the United Kingdom
Qjm,
Vol: 93 Page: 99-104 February 2000
W. Reardon; O. Mahoney CF ; R. Trembath; H. Jan; P. D. Phelps
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This case report discusses the long term outcome of a new ophthalmic treatment for laryngo-onycho-cutaneous (LOC) syndrome
Abstract:
AIMS: To document and discuss the long term outcome of a new ophthalmic treatment for laryngo-onycho-cutaneous (LOC) syndrome. METHODS: Two children were treated by excision of ocular granulation tissue and ocular surface rehabilitation with frozen amniotic membrane (AM). The clinical course of both patients was followed and documented at 2 years and 4 years following the surgery. more...
International Classification:
Diseases of the digestive system - Report
Categories:
laryngo-onycho-cutaneous
Geography:
Northern Ireland
Br J Ophthalmol,
Vol: 89 Page: 939-41 August 2005
J. E. Moore; S. Shah; V. Kumar; J. R. Ainsworth; A. B. Page; W. H. McLean
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This article discusses aspects of true food allergies, implying immune-mediated adverse responses to food antigens, discussing the importance of IgE-mediated and non-IgE-mediated immune mechanisms
Abstract:
Adverse reactions to foods are commonly implicated in the causation of ill health. However, foreign antigens, including food proteins and commensal microbes encountered in the gastrointestinal tract, are usually well tolerated. True food allergies, implying immune-mediated adverse responses to food antigens, do exist, however, and are especially common in infants and young children. more...
Geography:
Republic of Ireland
Curr Gastroenterol Rep,
Vol: 4 Page: 373-82 October 2002
P. F. O'Leary; F. Shanahan
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This case report discusses the case of a 3-month-old baby girl with hair-thread tourniquet syndrome in whom a hair cheese-wired through the skin and soft tissue of the toe and caused bony erosion of the underlying phalanx
Abstract:
Hair-thread tourniquet syndrome is a rare condition where appendages are strangulated by an encircling strand of hair, a thread, or a fiber. The condition usually occurs in very young patients in the first few months of life. We present a unique case of a 3-month-old baby girl with hair-thread tourniquet syndrome in whom a hair cheese-wired through the skin and soft tissue of the toe more...
International Classification:
Syndrome
Categories:
hair-thread tourniquet syndrome
Geography:
Republic of Ireland
Ann Plast Surg,
Vol: 57 Page: 447-52 October 2006
A. Z. Mat Saad; E. M. Purcell; J. J. McCann
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This case report discusses a diagnosis of 5 cases of Cohen Syndrome among 3 families from the Irish Traveller Community in the West of Ireland
International Classification:
Syndrome
Categories:
Cohen syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 16 Page: 257-9 October 2007
A. M. Murphy; O. Flanagan; K. Dunne; S. A. Lynch
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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
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The aim of this study was to define the distribution of c-kit-positive interstitial cells of Cajal in normal bladder and bladders from patients with megacystis-microcolon-intestinal peristalsis syndrome
Abstract:
OBJECTIVE: To investigate the distribution of c-kit-positive interstitial cells of Cajal (ICCs) in normal bladder and bladders from patients with megacystis-microcolon-intestinal peristalsis syndrome (MMIHS, a rare congenital and generally fatal cause of functional intestinal obstruction in the newborn), the most characteristic feature of which is abdominal distension caused by a more...
International Classification:
Syndrome - megacystis-microcolon-intestinal peristalsis
Categories:
distribution of c-kit-positive interstitial cells of Cajal; -megacystis-microcolon-intestinal peristalsis syndrome
Geography:
Republic of Ireland
BJU Int,
Vol: 94 Page: 143-6 July 2004
A. Piaseczna Piotrowska; U. Rolle; V. Solari; P. Puri
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This article discusses kidney failure as a constituent element of the natural history of Townes-Brocks syndrome
Abstract:
Though uncommon, kidney malformations are described in several cases of Townes-Brocks syndrome. By contrast, kidney failure has been reported as the presenting feature of Townes-Brocks syndrome on only one occasion. While the SALL1 gene, mutations of which result in the Townes-Brocks phenotype, is expressed in the developing kidney, the absence of other corroborative reports of kidney more...
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 143A Page: 2588-91 November 2007
W. Reardon; L. F. Casserly; R. Birkenhager; J. Kohlhase
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This case report discusses a case of late-onset central hypoventilation syndrome: a family genetic study
Abstract:
Congenital central hypoventilation syndrome is a rare disorder characterised by chronic alveolar hypoventilation, which becomes more pronounced during sleep and may be associated with neurocristopathies, such as Hirchsprung's disease. A mutation in the PHOX2B gene has recently been identified. In a family of both parents and five offspring, detailed clinical assessment, pulmonary more...
International Classification:
Syndrome
Categories:
Hypoventilation syndrome
Geography:
Republic of Ireland
Eur Respir J,
Vol: 29 Page: 312-6 February 2007
L. S. Doherty; J. L. Kiely; P. C. Deegan; G. Nolan; S. McCabe; A. J. Green; S. Ennis; W. T. McNicholas
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This case report discusses a girl with Malpuech Syndrome
Abstract:
We present a girl with Malpuech syndrome. In addition to the typical features of intrauterine growth retardation, facial dysmorphism, caudal appendage and patent ductus arteriosis, she has an unusual eyebrow pattern with a lateral flare. more...
International Classification:
Syndrome
Categories:
Malpuech syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 15 Page: 243-4 October 2006
S. M. Finn; S. A. Lynch
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The aim of this study was to examine small- and large-bowel specimens of three newborn infants presenting with the clinical and radiological symptoms of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)
Abstract:
We investigated small- and large-bowel specimens of three newborn infants presenting with the clinical and radiological symptoms of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Conventional histological staining revealed marked thinning of the longitudinal muscle layer. Electron-microscopic investigations showed typical "central core" vacuolic more...
International Classification:
Syndrome - megacystis-microcolon-intestinal hypoperistalsis
Categories:
megacystis-microcolon-intestinal hypoperistalsis syndrome
Geography:
Republic of Ireland
Pediatr Surg Int,
Vol: 18 Page: 2-5 January 2002
U. Rolle; S. O'Briain; R. H. Pearl; P. Puri
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These case report discuss two children with Nephrocalcinosis and disordered calcium metabolism and an Adult with SHORT syndrome
Abstract:
Reports of SHORT syndrome have, to date, focused on the clinical features which lie at the core of the diagnosis but there has been little by way of report of long-term outcome, either in terms of medical complications or of intellectual development. We now report two children in whom nephrocalcinosis has developed and a third, adult, with similar findings. It may be that clinicians more...
International Classification:
Other - Nephrocalcinosis
Categories:
nephrocalcinosis
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 146A Page: 1296-8 May 2008
W. Reardon; I. K. Temple
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This article discusses known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural tube defects and causative genes, if known
Abstract:
Although most neural tube defects (anencephaly, spina bifida) occur as isolated malformations, a substantial proportion are attributable to chromosome anomalies, known teratogens, or component manifestations of multiple anomaly syndromes. This review describes known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural more...
Geography:
Republic of Ireland
Am J Med Genet C Semin Med Genet,
Vol: 135C Page: 69-76 May 2005
S. A. Lynch
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This case report discusses a case of oculo-facio-cardio-dental syndrome in a mother and daughter
Abstract:
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by canine teeth with extremely large roots (radiculomegaly), congenital cataract, dysmorphic facial features and congenital heart disease. A case of mother-daughter vertical transmission of OFCD is reported. Dental findings were important in confirming the diagnosis in the mother. more...
International Classification:
Syndrome
Categories:
Oculo-facio-cardio-dental syndrome
Geography:
Republic of Ireland
Int J Oral Maxillofac Surg,
Vol: 35 Page: 1060-2 November 2006
E. McGovern; M. Al-Mudaffer; C. McMahon; D. Brosnahan; P. Fleming; W. Reardon
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This study examined the outcome of a group of children diagnosed with cyclic vomiting syndrome from 1993 to 2003
Abstract:
OBJECTIVE: Cyclical vomiting syndrome (CVS) is a disorder that carries a significant burden of disease for children and their families. The aim of this study was to examine the outcome of a group of children diagnosed with CVS from 1993 to 2003. METHODS: Children diagnosed with CVS over a 10-year period were identified and a review of the clinical records was carried out to define more...
International Classification:
Syndrome - Cyclic vomiting
Categories:
cyclic vomiting syndrome
Geography:
Republic of Ireland
Arch Dis Child,
Vol: 92 Page: 1001-4 November 2007
E. Fitzpatrick; B. Bourke; B. Drumm; M. Rowland
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This case report discusses an 8-year-old girl, diagnosed with Familial cold auto-inflammatory syndrome
Abstract:
Familial cold auto-inflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurologic, cutaneous, articular syndrome are related disorders associated with mutations in the CIAS1 gene. They appear to represent a continuum of one disease characterized by IL-1-mediated inflammation. Until recently, these conditions have been difficult to treat; however, with the advent of more...
International Classification:
Syndrome
Categories:
cold auto-inflammatory syndrome
Geography:
Republic of Ireland
Pediatr Dermatol,
Vol: 24 Page: 85-9 2007 Jan-Feb
S. M. O'Connell; G. M. O'Regan; T. Bolger; H. M. Hoffman; A. Cant; A. D. Irvine; R. M. Watson
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This case report discusses a 3 year old boy with Septo-optic dysplasia and digital anomalies
Abstract:
A distinct form of septo-optic dysplasia (SOD) comprises limb malformations in addition to the characteristic CNS and ocular abnormalities. To date, there have been 4 reports, citing 5 affected patients with this combined phenotype. We now add a further case and present neuroradiological images of the CNS findings in this condition. The striking consistency of the limb malformations and more...
International Classification:
Diseases of the eye and adnexa - Report
Categories:
Septo-optic dysplasia
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 131 Page: 82-5 November 2004
I. M. Harrison; D. Brosnahan; E. Phelan; R. J. Fitzgerald; W. Reardon
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This article discusses Shwachman-Diamond syndrome
Abstract:
Shwachman-Diamond syndrome (SDS), described just under 40 years ago, is a rare, autosomal-recessive disorder usually manifest in infancy and characterized by exocrine pancreatic insufficiency, short stature, and bone marrow dysfunction. Additional clinical features include metaphyseal dysostosis, epiphyseal dysplasia, immune dysfunction, liver disease, growth failure, renal tubular more...
Geography:
Republic of Ireland
Semin Hematol,
Vol: 39 Page: 95-102 April 2002
O. P. Smith
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This case report discusses a case of a giant oropharyngeal teratoma diagnosed in a fetus of 19 weeks gestation
Abstract:
Large fetal neck masses can present a major challenge to securing an airway at birth, with associated risks of hypoxia, brain injury and death. The authors report a case of a giant oropharyngeal teratoma diagnosed in a fetus of 19 weeks gestation. The fetus was delivered by the ex utero intrapartum treatment procedure allowing sufficient time on placental support for bronchoscopy and more...
International Classification:
Diseases of the digestive system - Report
Categories:
oropharyngeal teratoma
Geography:
Republic of Ireland
Irish Medical Journal,
Vol: 99 Page: 242-243 2006
F. Glynn; P. Sheahan; J. Hughes; J. Russell
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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
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This article discusses the behavioural phenotype in velo-cardio-facial syndrome
Geography:
Republic of Ireland
J Intellect Disabil Res,
Vol: 48 Page: 524-30 September 2004
K. C. Murphy
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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
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The aim of this study was to describe the natural history of early onset scoliosis before 10 years of age
Abstract:
A retrospective analysis of the natural history and treatment outcome of scoliosis, both idiopathic and syndromic, presenting before age 10 years was undertaken. The pattern was generally one of relentless progression, with little discernible benefit from orthotic treatment and surgical correction as the outcome for the majority. This result makes imperative a properly constructed study more...
International Classification:
Diseases of the musculoskeletal system and connective tissue - Dorsopathies - Scoliosis
Categories:
scoliosis
Geography:
Republic of Ireland
Stud Health Technol Inform,
Vol: 91 Page: 68-70 2002
C. J. Goldberg; D. P. Moore; E. E. Fogarty; F. E. Dowling
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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
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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
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This case report discusses Walker-Warburg phenotype and genotype among Irish Travellers
International Classification:
Syndrome
Categories:
Walker-Warburg syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 17 Page: 119-20 April 2008
A. M. Murphy; M. Sheridan; M. B. O'Neill; A. Green
[Preview]
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