Irish Child Health Database - Peer Reviewed Papers
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Genes, Dominant
Your search returns 4 documents
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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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The aim of this study was to characterise an Irish kindred with apparent autosomal dominant peripheral retinal lesions and peripapillary crescents associated with retinal breaks and uveitis to examine the association with altered homocysteine metabolism
Abstract:
PURPOSE: To characterise an Irish kindred with apparent autosomal dominant peripheral retinal lesions and peripapillary crescents associated with retinal breaks and uveitis and assess whether these findings were associated with altered homocysteine metabolism. METHODS: Family members were followed prospectively and regularly examined. Molecular genetic analysis was performed on family more...
International Classification:
Diseases of the eye and adnexa - Disorders of sclera, cornea, iris and ciliary body - uveitis
Categories:
peripheral retinal lesions; uveitis
Geography:
Republic of Ireland
Graefes Arch Clin Exp Ophthalmol,
Vol: 239 Page: 102-8 February 2001
M. Cahill; P. Gallagher; A. Whitehead; R. Acheson
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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 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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