Autosomal dominant disease.
Synopsis
systemic anomalies
perinatal death
premature birth
nonimmune hydrops
low birth weight
ocular anomalies
blue sclerae
craniofacial anomalies
beaked nose
large fontanelles
platyspondyly
skeletal anomalies
short limb dwarfism
beaded ribs
numerous multiple fractures present at birth
soft calvaria
absent calvarial mineralization
hips usually flexed and abducted (frog-leg position)
flattened acetabulae and iliac wings (...)
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Disease
Articles
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osteogenesis imperfecta
26 May 2004 -
Griscelli disease
17 September 2003Griscelli syndrome
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celiac disease
6 April 2004coeliac disease; celiac sprue; gluten-sensitive enteropathy
Definition: Celiac disease is a common autoimmune condition triggered by ingesting one of several related proteins found in wheat, barley, and rye: the gliadins, hordeins, and secalins.
In susceptible persons, ingestion of these proteins leads to infiltration of the intestinal mucosa by both intraepithelial CD8+ lymphocytes and CD4+ lamina propria lymphocytes and, ultimately, to crypt hyperplasia and villous atrophy.
Symptoms (...) -
Goldberg-Shprintzen syndrome
25 June 2005Definition: Goldberg-Shprintzen syndrome associates microcephaly, mental retardation, Hirschsprung disease, bilateral generalized polymicogyria.
The Goldberg-Shprintzen syndrome is an autosomal recessive MCA-MR syndrome combining Hirschsprung disease, moderate mental retardation, microcephaly, polymicrogyria, facial dysmorphic features (hypertelorism, prominent nose, synophrys, sparse hair), cleft palate and iris coloboma.
GSS is a rare condition within the group of patients with MR and (...) -
Tay-Sachs disease
18 June 2005Tay-Sachs disease, the most common form of GM2 gangliosidosis, results from mutations that affect the α-subunit locus on chromosome 15 and cause a severe deficiency of hexosaminidase A. This disease is especially prevalent among Jews, particularly among those of Eastern European (Ashkenazic) origin, in whom a carrier rate of 1 in 30 has been reported.
Etiology
Tay-Sachs disease is caused by mutation in the alpha subunit of the hexosaminidase A gene (HEXA) (MIM.606869)
Tay-Sachs Disease (...) -
Pick disease
23 April 2005Definition: Pick disease (lobar atrophy) is a rare, distinct, progressive dementia characterized clinically by early onset of behavioral changes together with alterations in personality (frontal lobe signs) and language disturbances (temporal lobe signs).
While most cases of Pick disease are sporadic, there have been some familial forms identified and linked to mutations in tau.
Pick disease belongs to a class of neurodegenerative diseases known as frontotemporal dementia (FTD) (...) -
invasive aspergillosis
9 June 2004Invasive Aspergillus infection
Digital cases
HPC:421 : cerebral aspergillosis
HP:11369 : Pulmonary aspergillosis
Synopsis
remote localizations cerebral aspergillus abcess -
ranula
17 July 2003ptyalocele, sialocele, sublingual cyst
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granulomatosis with polyangiitis
8 July 2005Wegener granulomatosis; GPA
Definition: Wegener granulomatosis is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera.
Images
mastoid
https://twitter.com/chioseasi/status/700798795068538880
Wegener’s Granulomatosis in lung with vasculitis (...) -
giant cell arteritis
15 April 2005giant-cell arteritis; temporal arteritis
Images
Temporal arteritis https://twitter.com/dmlarsonpath1/status/862295348177448962
Digital slides
UI:623 - Temporal arteritis: Vasculitis, giant cell arteritis
Synopsis
abundant multinucleate giant cells
mononulear cell inflammatory infiltrate
parietal fibrosis with marked narrowing of the lumen
Etiology
- temporal arteritis
References
Salvarani C, Cantini F, Boiardi L, Hunder GG. Polymyalgia rheumatica and giant-cell (...)