fetal chromosomal anomalies
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Group of diseases
Articles
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constitutional chromosomal anomalies
20 April 2004 -
proteoglycans defects
6 October 2003proteoglycan defects
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fetopathies
22 November 2004fetal systemic diseases
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myelodysplastic/myeloproliferative neoplasms
8 December 2003myelodysplastic syndrome, myelodysplastic diseases; myelodysplasia; (MDS/MPN) myelodysplastic syndromes
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retinitis pigmentosa
20 October 2003RP
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primary ciliary dyskinesia
23 November 2003PCD, immotile cilia syndrome
Digital case (Digital slides)
HPC:366 : Bronchiectasis in ciliary dyskinesia
Definition: Autosomal recessive chronic pulmonary disease.
Synopsis
bronchiectasis
immotile cilia
ciliary dyskinesia
chronic rhinitis
sinusitis
nasal polyps
abnormal dynein arms by electron microscopy
Etiology: 5 loci have been identified. DNAI1 CILD1 MIM.242650 9p21-p13 unknown CILD2 MIM.606763 19q13.3-qter DNAH5 CILD3 MIM.608644 5p15-p14 unknown CILD4 (...) -
mitochondrial diseases
28 May 2003mitochondrial cytopathy, mitochondriopathies, mitochondrial defects, mitochondrial cytopathies, mitochondrial disorders
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primary leiomyopathies
12 November 2003primary visceral myopathies
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arboviroses
6 February 2006Exemples
yeloow fever
dengue
chikungunya
Kyasanur Forest disease
PAthogeny
Etiologic agents of arboviral diseases are primarily zoonotic pathogens that are maintained in nature in cycles involving arthropod transmission among a variety of susceptible reservoir hosts.
In the simplest form of human exposure, spillover occurs from the enzootic cycle when humans enter zoonotic foci and/or enzootic amplification increases circulation near humans.
Examples include Eastern equine (...) -
digestive angiomatosis
27 October 2003Classification
blue rubber bleb nevus syndrome
Klippel-Trenaunay syndrome