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Syndrome
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This case report discusses a case treatment - conventional ventilation - of a case of pneumomediastinum in paediatric acute respiratory distress syndrome
Abstract:
An 18-month-old was transferred (intubated and ventilated) to our hospital with staphylococcal tracheitis, which progressed to a necrotizing pneumonitis, complicated by surgical emphysema and pneumomediastinum. Maximum conventional ventilation on a Servo 300 failed. Treatment with high frequency oscillatory ventilation (for 10 days) with a permissive hypercarbia and hypoxaemia strategy more...
International Classification:
Syndrome
Categories:
Acute respiratory distress syndrome
Geography:
Republic of Ireland
Paediatr Anaesth,
Vol: 11 Page: 366-9 May 2001
J. McGinley; T. Corcoran; G. Canny; B. O'Hare
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This case report discusses the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava
Abstract:
This report describes the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava. The child underwent successful Norwood and Glenn palliative procedures. At the age of 9 months, the genetic condition was recognized. This represents the first report describing this combination of more...
International Classification:
Syndrome
Categories:
Kabuki syndrome
Geography:
Republic of Ireland
Pediatr Cardiol,
Vol: 29 Page: 820-2 July 2008
R. Shahdadpuri; S. A. Lynch; H. Murchan; C. J. McMahon
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This case report discusses airway management in a baby with femoral hypoplasia-unusual facies syndrome
Abstract:
We report the successful fibreoptic intubation through a laryngeal mask airway (LMA) while maintaining spontaneous respiration in an anaesthetized 3-month-old female infant with femoral hypoplasia-unusual facies syndrome, in whom direct laryngoscopy and intubation proved impossible. more...
International Classification:
Syndrome
Categories:
femoral hypoplasia-unusual facies syndrome
Geography:
Republic of Ireland
Paediatr Anaesth,
Vol: 12 Page: 461-4 June 2002
G. Iohom; B. Lyons; W. Casey
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This case report discusses a patient whose clinical presentation closely resembles the profile of Malpuech syndrome, but whose radiological features are more in keeping with published observations in Juberg-Hayward patients.
Abstract:
Malpuech syndrome and Juberg-Hayward syndrome are considered to be distinct disorders of orofacial clefting. We present details of a patient whose clinical presentation closely resembles the profile of Malpuech syndrome, but whose radiological features are more in keeping with published observations in Juberg-Hayward patients. more...
International Classification:
Syndrome
Categories:
Juberg-Hayward syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 10 Page: 123-8 April 2001
W. Reardon; C. M. Hall; W. Gorman
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This case report discusses a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother
Abstract:
The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype. more...
International Classification:
Syndrome
Categories:
de Lange syndrome
Geography:
Northern Ireland
Clin Dysmorphol,
Vol: 12 Page: 241-4 October 2003
V. McConnell; T. Brown; P. J. Morrison
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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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This case report discusses a case of possible Kawasaki disease which presented with bilateral subdural collections
Abstract:
A case of possible Kawasaki disease presenting with bilateral subdural collections is reported. A 6-month-old boy was admitted to hospital following a prolonged partial seizure. He showed signs of worsening encephalopathy and was treated for presumed infective meningoencephalitis. Imaging revealed bilateral subdural collections. Pyrexia and irritability continued despite appropriate more...
International Classification:
Syndrome
Categories:
Kawasaki syndrome
Geography:
Republic of Ireland
Eur J Paediatr Neurol,
Vol: 5 Page: 79-81 2001
N. M. Bailie; O. J. Hensey; S. Ryan; D. Allcut; M. D. King
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These case reports discuss the cases of 2 related Irish families with clinically severe carbonic anhydrase II deficiency syndrome deficiency in whom the gene mutation has been fully elucidated
Abstract:
Carbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification with associated developmental delay. It is inherited in an autosomal recessive fashion and found most frequently in the Mediterranean more...
International Classification:
Syndrome
Categories:
Carbonic anhydrase II deficiency syndrome
Geography:
Republic of Ireland
Blood,
Vol: 97 Page: 1947-50 April 2001
C. McMahon; A. Will; P. Hu; G. N. Shah; W. S. Sly; O. P. Smith
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This case report discusses a selection of cases managed with botulinum toxin and review the current data on use of the toxin to treat salivary gland disorders - Frey's syndrome, excessive salivation, hyperhidrosis, lacrimation and chronic rhinitis.
Abstract:
SUMMARY: The use of botulinum toxin to treat disorders of the salivary glands is increasing in popularity in recent years. Recent reports of the use of botulinum toxin in glandular hypersecretion suggest overall favourable results with minimal side-effects. However, few randomised clinical trials means that data are limited with respect to candidate suitability, treatment dosages, more...
International Classification:
Syndrome
Categories:
botulinum toxin
Geography:
Republic of Ireland
J Plast Reconstr Aesthet Surg,
Vol: 61 Page: 1024-8 September 2008
T. A. Laing; M. E. Laing; S. T. O'Sullivan
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This case report discusses the clinical, radiological, and audiological features are described in a boy whose condition closely parallels the profile of patients previously described with Keipert syndrome
Abstract:
Clinical, radiological, and audiological features are described in a boy whose condition closely parallels the profile of patients previously described with Keipert syndrome. This case represents the fourth report of this rare disorder. more...
International Classification:
Syndrome
Categories:
Keipert syndrome
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 118A Page: 86-9 April 2003
W. Reardon; C. M. Hall
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This case report discusses the case of a 14-year-old boy who developed Kawasaki disease at 5 months of age and subsequent calcified occlusion of the right coronary artery in Kawasaki disease
Abstract:
We report the case of a 14-year-old boy who developed Kawasaki disease at 5 months of age. The patient developed severe aneurysmal disease of both the left and right coronary arteries. He eventually developed total calcified occlusion of the right coronary artery despite long-term treatment with aspirin. Catheterisation showed no antegrade flow into the right coronary artery, with more...
International Classification:
Syndrome
Categories:
Kawasaki syndrome
Geography:
Republic of Ireland
Arch Dis Child,
Vol: 91 Page: 926-8 November 2006
J. Beamish; M. J. O'Connell; A. El Khuffash; D. F. Duff; C. J. McMahon
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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 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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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 case report discusses a case of otherwise typical cutaneous Sweet syndrome accompanied by an extracutaneous manifestation in the ileum.
Abstract:
Acute febrile neutrophilic dermatosis, or Sweet syndrome, is a cutaneous eruption characterized clinically by the appearance of painful red plaques and nodules and histologically by an intense dermal neutrophilic infiltrate. Extracutaneous manifestations are rare. We report a patient in whom otherwise typical cutaneous Sweet syndrome was accompanied by an extracutaneous manifestation in more...
International Classification:
Syndrome
Categories:
Sweet syndrome
Geography:
Republic of Ireland
J Pediatr Hematol Oncol,
Vol: 23 Page: 59-62 January 2001
M. B. McDermott; M. T. Corbally; A. S. O'Marcaigh
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This case report discusses a pair of siblings affected by Prader-Wili Syndrome
Abstract:
Prader-Willi syndrome (PWS) is a neurobehavioural disorder arising through a number of different genetic mechanisms. All involve loss of paternal gene expression from chromosome 15q11q13. Although the majority of cases of PWS are sporadic, precise elucidation of the causative genetic mechanism is essential for accurate genetic counselling as the recurrence risk varies according to the more...
International Classification:
Syndrome
Categories:
Prader-Wili Syndrome
Geography:
Republic of Ireland
Clin Genet,
Vol: 58 Page: 216-23 September 2000
M. E. McEntagart; T. Webb; C. Hardy; M. D. King
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This case report discusses a case of dental treatment carried out successfully under local anaesthetic for a young child with Freeman-Sheldon syndrome.
Abstract:
BACKGROUND: Freeman-Sheldon Syndrome is a rare craniofacial syndrome that has not been described in the dental literature to date. The main feature of relevance is severe microstomia, which limits access for routine dental care. CASE REPORT: Dental treatment was carried out successfully under local anaesthetic for a young child with Freeman-Sheldon syndrome. A novel coloured compomer more...
International Classification:
Syndrome
Categories:
Freeman-Sheldon syndrome.
Geography:
Northern Ireland
Int J Paediatr Dent,
Vol: 16 Page: 440-3 November 2006
L. A. Corrigan; C. A. Duncan; T. A. Gregg
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This case report discusses a boy with an oligo array-cgh characterised small microdeletion involving EXT1 alone but with some features of Langer-giedion syndrome suggesting a functional disturbance of TRPS1
Abstract:
Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. This boy, in addition to a mild Langer-Giedion like phenotype, also had some more...
International Classification:
Syndrome
Categories:
Langer-giedion syndrome
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 146A Page: 1587-92 June 2008
J. McBrien; J. A. Crolla; S. Huang; J. Kelleher; J. Gleeson; S. A. Lynch
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This case report discusses the genitopatellar syndrome
Abstract:
Genitopatellar syndrome is a newly described condition, subject of a single literature report to date. The condition comprises absent patellae, genital and renal malformations, joint dislocation, and mental retardation. Recurrence has been recorded in two kindreds, consistent with autosomal recessive inheritance. more...
International Classification:
Syndrome
Categories:
Genitopatellar syndrome
Geography:
Republic of Ireland
Am J Med Genet,
Vol: 111 Page: 313-5 August 2002
W. Reardon
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This case report discusses gianotti-crosti syndrome following meningococcal septicaemia
International Classification:
Syndrome
Categories:
Gianotti-crosti syndrome; meningococcal septicaemia
Geography:
Republic of Ireland
Irish Medical Journal,
Vol: 100 Page: 2007
I. Khan; J. Gleeson; D. McKenna
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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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This case report discusses the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia
Abstract:
Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus-dystonia (M-D). We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may more...
International Classification:
Syndrome
Categories:
epsilon-sarcoglycan gene; Myoclonus-dystonia syndrome
Geography:
Republic of Ireland
Mov Disord,
Vol: 19 Page: 1456-9 December 2004
S. O'Riordan; L. J. Ozelius; P. de Carvalho Aguiar; M. Hutchinson; M. King; T. Lynch
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This case report discusses a case of Job syndrome masquerading as a non-accidental injury
Abstract:
Awareness of the rare condition of Job syndrome is low among both paediatricians and geneticists. Consequently, observation of the recurrent fractures in the majority of such cases can result in misdiagnosis of non-accidental injury in young children who have the syndrome. The case we report here represents an example of this diagnostic pitfall, which deserves wide recognition due to more...
International Classification:
Syndrome
Categories:
Job syndrome
Geography:
Republic of Ireland
Arch Dis Child,
Vol: 93 Page: 65-7 January 2008
J. Walsh; W. Reardon
[Preview]
[Read]
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This case report discusses Kallmann Syndrome presenting as congenital ptosis in brothers
International Classification:
Syndrome
Categories:
Kallmann syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 16 Page: 207-8 July 2007
W. Reardon
[Preview]
[Read]
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This case report discusses Katargener's Syndrome in pregnancy
International Classification:
Syndrome
Categories:
Katargener's syndrome in pregnancy
Geography:
Republic of Ireland
J Obstet Gynaecol,
Vol: 22 Page: 89-90 January 2002
S. Cooley; S. Lalchandani; D. P. Keane
[Preview]
[Read]
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This case report discusses Knobloch syndrome
International Classification:
Syndrome
Categories:
Knobloch syndrome
Geography:
Republic of Ireland
Int J Paediatr Dent,
April 2008
A. C. O'Connell; M. Toner; S. Murphy
[Preview]
[Read]
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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
[Preview]
[Read]
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This case report discusses Asperger's syndrome
International Classification:
Syndrome
Categories:
Asperger's syndrome
Geography:
Republic of Ireland
Ir J Med Sci,
Vol: 172 Page: 147-8 2003 Jul-Sep
H. O'Connell; M. Fitzgerald
[Preview]
[Read]
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This case report discusses Kabuki Syndrome with a confirmed diagnosis of a low grade fibromyxoid sarcoma.
International Classification:
Syndrome
Categories:
Kabuki syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 17 Page: 199-202 July 2008
R. Shahdadpuri; A. O'Meara; M. O'Sullivan; W. Reardon
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[Read]
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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
[Preview]
[Read]
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This case report discusses multiple airway abnormalities in a patient with Rothmund-Thomson syndrome
Abstract:
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder that is characterized by skin manifestations, juvenile cataracts, and extracutaneous manifestations. The presence of congenital airway abnormalities has not previously been documented in Rothmund-Thomson syndrome. We report the case of a child with Rothmund-Thomson syndrome suffering from multiple airway more...
International Classification:
Syndrome
Categories:
Rothmund-Thomson syndrome
Geography:
Republic of Ireland
Int J Pediatr Otorhinolaryngol,
Vol: 68 Page: 469-72 April 2004
M. A. Hafidh; P. Sheahan; J. D. Russell
[Preview]
[Read]
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This case report discusses neonatal abstinence syndrome due to prolonged administration of fentanyl in pregnancy
International Classification:
Syndrome
Categories:
Neonatal abstinence syndrome
Geography:
Republic of Ireland
Bjog,
Vol: 107 Page: 570-2 April 2000
J. Regan; F. Chambers; W. Gorman; R. MacSullivan
[Preview]
[Read]
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This case report discusses use of an Amplatzer Ductal Occluder Device to occlude a residual Sano shunt in an infant with a variant of hypoplastic left heart syndrome
Abstract:
The presence of a residual systemic-to-pulmonary shunt following a bidirectional Glenn operation may be necessary in patients with an elevated pulmonary vascular resistance. It is often possible to perform percutaneous occlusion of these shunts once the resistance has fallen. We report on the use of an Amplatzer Ductal Occluder Device to occlude a residual Sano shunt in an infant with a more...
International Classification:
Syndrome
Categories:
Hypoplastic left heart syndrome.
Geography:
Republic of Ireland
J Invasive Cardiol,
Vol: 20 Page: E64-5 February 2008
M. A. Walsh; C. J. McMahon; K. P. Walsh
[Preview]
[Read]
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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
[Preview]
[Read]
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This case report discusses the dental findings in a child followed up for 9 years: Parry-Romberg syndrome
Abstract:
INTRODUCTION: The incidence of Parry-Romberg syndrome (PRS) is very rare. CASE REPORT: A case report is presented highlighting the main dental aspects that include delayed eruption, root resorption, dilacerations, and a reduction in the height and width of the ramus and body of the mandible on the affected side. more...
International Classification:
Syndrome
Categories:
Parry-Romberg syndrome
Geography:
Republic of Ireland
Int J Paediatr Dent,
Vol: 16 Page: 297-301 July 2006
S. O'Flynn; M. Kinirons
[Preview]
[Read]
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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
[Preview]
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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
[Preview]
[Read]
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This case report discusses Moya Moya Syndrome in a child
International Classification:
Syndrome
Categories:
Moya Moya syndrome
Geography:
Republic of Ireland
Ir Med J,
Vol: 96 Page: 116-7 April 2003
Y. Najam; J. B. McMenamin
[Preview]
[Read]
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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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This case report discusses a cases of Turner's syndrome and benign intracranial hypertension with or without growth hormone treatment
International Classification:
Syndrome
Categories:
Turner's syndrome
Geography:
Republic of Ireland
J Pediatr Endocrinol Metab,
Vol: 17 Page: 1243-4 September 2004
P. Bala; J. McKiernan; C. Gardiner; G. O'Connor; A. Murray
[Preview]
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