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» Congenital malformations, deformations and chromosomal abnormalities - Report
Congenital malformations, deformations and chromosomal abnormalities - Report
Your search returns 25 documents
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This case report discusses recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital atrichia
Geography:
Republic of Ireland
Br J Dermatol,
Vol: 156 Page: 744-7 April 2007
G. M. O'Regan; J. Zurada; A. Martinez-Mir; A. M. Christiano; A. D. Irvine
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This case report discusses agenesis of the corpus callosum with interhemispheric cyst, hepatic haemangioma and trisomy 21
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
agenesis of the corpus callosum
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 15 Page: 149-51 July 2006
A. M. Murphy; C. Brenner; S. Ann Lynch
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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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This case report discusses the autoamputation of a congenital oropharyngeal hairy polyp
Abstract:
Hairy polyps or dermoids are rare, benign congenital tumours of the oronasopharynx containing elements of both ectodermal and mesodermal origin. They occur most commonly in young infants and can cause respiratory distress or failure to thrive due to feeding difficulties. Computed tomography, magnetic resonance imaging, and barium video fluoroscopy can be useful in delineating the origin more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital oropharyngeal hairy polyp
Geography:
Republic of Ireland
Pediatr Surg Int,
Vol: 18 Page: 548-9 September 2002
D. De Caluwe; S. M. Kealey; R. Hayes; P. Puri
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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 a 5-year-old boy with presented with an infected left-sided branchial fistula
Abstract:
A 5-year-old boy presented with an infected left-sided branchial fistula. Despite antibiotic treatment and repeated excision of the fistula, purulent discharge from the wound persisted. Three-dimensional computed tomography (3D CT) reconstruction greatly facilitated the diagnosis and management of this case by showing the course of the fistulous tract. The complexity of the tract more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
infected left-sided branchial fistula
Geography:
Republic of Ireland
J Pediatr Surg,
Vol: 36 Page: 1087-8 July 2001
D. De Caluwe; R. Hayes; M. McDermott; M. T. Corbally
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This case report discusses congenital depression of the neonatal skull
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital depression of the neonatal skull
Geography:
Republic of Ireland
Arch Dis Child Fetal Neonatal Ed,
Vol: 91 Page: F272 July 2006
L. Hanlon; B. Hogan; D. Corcoran; S. Ryan
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This case report discusses a case a congenital erosive and vesicular dermatosis evident only 8-year after diagnosis
Abstract:
An 8-year-old boy born prematurely at 26 weeks' gestation presented with a reticulate scar on the left cheek. This started as an eroded area on day 3 postpartum, followed by crusting and scarring. There were also linear scars on the left forearm, left lower back and abdomen. The clinical picture fits the entity of congenital erosive and vesicular dermatosis. This retrospective case more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital erosive
Geography:
Republic of Ireland
Clin Exp Dermatol,
Vol: 30 Page: 146-8 March 2005
Y. Y. Vun; M. M. Malik; G. M. Murphy; B. O'Donnell
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This case report discusses the case of a patient with congenital insensitivity to pain that presented with self-mutilation injuries to his hands and oral tissues caused by biting
Abstract:
Pain is a protective mechanism for the body. Absence of pain is a symptom in several disorders, both congenital and acquired. The congenital types are present at birth and affect the number and distribution of types of nerve fibers. At present, 5 types of hereditary sensory and autonomic neuropathies have been identified. The various disorders within this group are classified according more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital insensitivity to pain
Geography:
Republic of Ireland
Oral Surg Oral Med Oral Pathol Oral Radiol Endod,
Vol: 101 Page: 58-62 January 2006
J. Butler; P. Fleming; D. Webb
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This case report discusses a congenital methaemoglobinaemia Type I in a Turkish infant due to a novel mutation, Pro144Ser, in NADH-cytochrome b5 reductase
Abstract:
A baby centrally cyanosed from birth was investigated for a congenital cardiac defect. Echocardiography and angiography revealed patent foramen ovale without any other cardiac abnormality. Congenital methaemoglobinaemia was considered as the methaemoglobin level was 27%, suggesting either Hb M or a deficiency of the NADH-cytochrome b5 reductase (cytb5r) enzyme. Measurement of the cytb5r more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital methaemoglobinaemia Type I
Geography:
Northern Ireland
Hematol J,
Vol: 5 Page: 367-70 2004
M. J. Percy; H. Oren; G. Savage; G. Irken
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This case report discusses two brothers congenital ptosis and esotropia, one of whom also has polythelia
Abstract:
Two brothers are reported with congenital ptosis and esotropia, one of whom also has polythelia. This particular constellation of clinical features has not previously been described, although comparison with recorded families does show significant overlap with the pedigree reported by Frydman et al. more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital ptosis and esotropia
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 12 Page: 115-7 April 2003
A. L. Madasseri; P. Mullaney; C. Costigan; W. Reardon
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This case reports a female infant of 42 weeks gestation with diaphragmatic hernia and hypoplastic left heart. A double vagina, absent uterus & abnormal male gonads were found in the presence of normal external female genitalia - Meacham Syndrome
Abstract:
We report a female infant of 42 weeks gestation with a left sided diaphragmatic hernia and a hypoplastic left heart. A true double vagina, absent uterus and abnormal male gonads were found in the presence of normal external female genitalia. Conventional G band karyotyping of skin samples revealed a normal male karyotype. The aetiology and inheritance are unknown. We believe this to be more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
diaphragmatic hernia; hypoplastic left heart
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 11 Page: 25-8 January 2002
O. G. Killeen; P. Kelehan; W. Reardon
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This case report discusses an unusual case of optic disc pseudoduplication with colobomata
Abstract:
PURPOSE: To present an unusual case of optic disc pseudoduplication with colobomata. METHODS: Clinical evaluation, fundus photography and literature review. RESULTS: Optic disc duplication is a rare clinical entity. CONCLUSIONS: We report what we believe to be the first case of pseudoduplication of the optic disc with coexistent bilateral optic disc colobomata. more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
pseudoduplication with colobomata
Geography:
Northern Ireland
Eur J Ophthalmol,
Vol: 14 Page: 163-5 2004 Mar-Apr
E. M. McLoone; T. A. Buchanan
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This case report discusses the clinical and pathological findings in two siblings in whom the 4977 base pair mitochondrial DNA deletion was identified in muscle-derived mitochondrial DNA
Abstract:
The common 4977 base pair mitochondrial deletion has been identified in association with a number of distinct clinical phenotypes. These include the Kearns-Sayre syndrome, the Pearson marrow-pancreas syndrome, and chronic progressive external ophthalmoplegia. We report the clinical and pathological findings in two siblings in whom the 4977 base pair mitochondrial DNA deletion was more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
4977 base pair mitochondrial DNA deletion
Geography:
Republic of Ireland
Am J Med Genet,
Vol: 111 Page: 191-4 August 2002
D. G. McDonald; J. B. McMenamin; M. A. Farrell; O. Droogan; A. J. Green
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This case report discusses the fatal late-onset presentation of ornithine transcarbamylase deficiency in a 62-year-old man with the V337L mutation, also in his grandson and negative clinical and biochemical screening of the proband's three daughters
Abstract:
Ornithine transcarbamylase deficiency (OTCD) resulting from deficiency of the mitochondrial enzyme OTC shows extensive phenotypic heterogeneity influenced by allelic heterogeneity and modifying environmental influences such as protein intake. We report the fatal late-onset presentation of OTCD in a 62-year-old man with the V337L mutation, a previous presentation in his grandson and more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
ornithine transcarbamylase deficiency
Geography:
Republic of Ireland
J Inherit Metab Dis,
Vol: 27 Page: 285-8 2004
T. Rohininath; D. J. Costello; T. Lynch; A. Monavari; M. Tuchman; E. P. Treacy
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These case reports discuss a novel G to A mutation at position 15,635 in the DIAI gene of a 4-month-old baby that results in a glycine to serine substitution at codon 75 in the cytochrome b(5) reductase protein
Abstract:
NADH-cytochrome b(5) reductase deficiency results clinically in either type I or type II recessive congenital methemoglobinemia. The more severe type II form is associated with a global deficiency of cytochrome b(5) reductase and is characterized by cyanosis with neurological dysfunction. In contrast, the only symptom for type I is cyanosis. We have identified a novel G to A mutation at more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
genetic mutation
Geography:
Northern Ireland
Blood Cells Mol Dis,
Vol: 36 Page: 81-90 2006 Jan-Feb
M. J. Percy; L. J. Crowley; D. Roper; T. J. Vulliamy; D. M. Layton; M. J. Barber
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This case report discusses a case of isolated bilateral orbital neurofibromatosis in a twelve-year-old
Abstract:
A patient with bilateral orbital neurofibromatosis is described. This patient had no other dysmorphic features and no systemic stigmata indicative of Von Recklinghausen's disease or endocrine syndromes. To our knowledge, this is the first report in the literature of isolated bilateral orbital neurofibromatosis in an otherwise normal patient. more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
orbital neurofibromatosis
Geography:
Republic of Ireland
Br J Plast Surg,
Vol: 54 Page: 162-4 March 2001
M. J. Earley; P. Moriarty; L. H. Yap
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This case report discusses a case of Moebius sequence and hypogonadotrophic hypogonadism with detailed neurologic, endocrine, and autopsy findings
Abstract:
A distinct form of Moebius sequence is associated with hypogonadotrophic hypogonadism. There have been five such cases to date. We now add a further case with detailed neurologic, endocrine, and autopsy findings and offer a hypothesis drawing parallels with the already established basis of hypogonadotrophic hypogonadism in the X-linked form of Kallman syndrome. more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
Moebius sequence; hypogonadotrophic hypogonadism
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 123A Page: 107-10 November 2003
J. E. Jennings; C. Costigan; W. Reardon
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This case report discusses the authors experience with ultrasound (US)-guided aspiration and injection of a congenital splenic cyst
Abstract:
Congenital splenic cysts are a rare entity. They are more frequent in children and young adults. They are true cysts, lined by epithelium with a typical trabeculation. Aspiration and injection with antibiotics (minocycline-tetracycline) or pure alcohol has been reported sparsely with variable results. The purpose of this case study is to report our experience with ultrasound (US)-guided more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital splenic cyst
Geography:
Republic of Ireland
J Pediatr Surg,
Vol: 38 Page: 629-32 April 2003
D. De Caluwe; E. Phelan; P. Puri
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This case report 2 mutations, E255- and G291D, identified in the nicotinamide adenine dinucleotide -binding lobe of cytb(5)r in previously reported patients, and detection of a further novel mutation, D239G, in this lobe in two unrelated Irish families
Abstract:
Type I recessive congenital methaemoglobinaemia (RCM), caused by the reduced form of nicotinamide adenine dinucleotide (NADH)-cytochrome b(5) reductase (cytb(5)r) deficiency, manifests clinically as cyanosis without neurological dysfunction. Two mutations, E255- and G291D, have been identified in the NADH-binding lobe of cytb(5)r in previously reported patients, and we have detected a more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
mutations of the nicotinamide adenine dinucleotide -binding lobe of cytb(5)r
Geography:
Northern Ireland
Br J Haematol,
Vol: 129 Page: 847-53 June 2005
M. J. Percy; L. J. Crowley; C. A. Davis; M. F. McMullin; G. Savage; J. Hughes; C. McMahon; R. J. Quinn; O. Smith; M. J. Barber; T. R. Lappin
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This case report discusses a case of recurrent congenital haemangiopericytoma in a child
Abstract:
A five-day-old boy was referred with a soft-tissue mass in his right upper arm. Plain radiographs and ultrasound demonstrated a lesion extending from the axilla to the elbow on the posterolateral aspect of the humerus. Open biopsy confirmed the diagnosis of congenital haemangiopericytoma. After MRI and selective angiography, excision biopsy was carried out, but no adjuvant therapy was more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital haemangiopericytoma
Geography:
Republic of Ireland
J Bone Joint Surg Br,
Vol: 83 Page: 269-72 March 2001
T. M. O'Donnell; A. T. Devitt; S. Kutty; E. E. Fogarty
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This case report discusses the use of posterior cervical locking plate fixation after apical vertebral excision for congenital lumbar kyphosis in a 3-year-old male myelomeningocoele patient
Abstract:
We report the use of posterior cervical locking plate fixation after apical vertebral excision for congenital lumbar kyphosis in a 3-year-old male myelomeningocoele patient. At 4-year follow-up the fixation was secure and the correction was well preserved. more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital lumbar kyphosis
Geography:
Republic of Ireland
J Spinal Disord Tech,
Vol: 19 Page: 292-4 June 2006
A. J. Laing; A. Walsh; P. O'Grady; M. Nelligan; D. McCormack
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This case report discusses three patients presenting to paediatric services with symptoms attributed initially to symptomatic anal stenosis/atresia.
Abstract:
Deletion of chromosome 22q11 is a common genetic condition with varying clinical presentation ranging from neonatal fatality to patients whose presentation to medical services will be prompted after a few years by speech delay or mild developmental concerns. While most published data relating to patients with 22q11 deletions has focused on the "classical" presentation of the more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
symptomatic anal stenosis/atresia
Geography:
Republic of Ireland
Pediatr Surg Int,
Vol: 22 Page: 384-6 April 2006
M. Al-Mudaffer; P. Puri; W. Reardon
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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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This case report discusses a child with stiff baby syndrome who underwent open reduction and femoral shortening of congenital dislocated hip under general anaesthesia
Abstract:
A case is described of a child with stiff baby syndrome who underwent open reduction and femoral shortening of congenital dislocated hip under general anaesthesia. Neuromuscular function was measured electromyographically and demonstrated a great degree of train of four fade (57%) after sevoflurane inhalational induction of anaesthesia. The response to suxamethonium (2 mg x kg(-1)) was more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital dislocated hip
Geography:
Republic of Ireland
Paediatr Anaesth,
Vol: 10 Page: 567-9 2000
C. Murphy; G. Shorten
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