Tuberous sclerosis complex (TSC), Bourneville tuberous sclerosis
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tuberous sclerosis
15 December 2003 -
androgen insentivity syndrome
13 June 2003AIS, Reifenstein’s syndrome, complete androgen insensitivity
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chronic synovitis in Lyme disease
18 January 2010Images
Chronic Synovitis in Lyme Disease (WebPathology)
Definition: Lyme disease is a multisystems infectious disorder caused by the spirochete, Borrelia burgdorferi. Infection occurs by ticks feeding on mammalian hosts, including humans. The distribution of the tick and spirochete is world-wide and is especially prevalent where there are large deer populations.
Stages
The disease is seen in three stages:
Stage I is a cutaneous rash (erythema chronicum migrans) consisting of (...) -
childhood asymmetric labium majus enlargement
14 September 2005Childhood asymmetric labium majus enlargement (CALME) couldrepresent 22% of all pediatric vulvar soft tissue masses and 3% of all vulvar lesions biopsied. It is a distinctive clinicopathologic entity of pre- and early puberty.
Synopsis
Age range: 3.9 to 13.2 years
enlargement of 1 or occasionally both labia majora
expansion of the labium majus without definable borders
fibro-fatty tissue from 2 to 8 cm in greatest dimension
usual constituents of vulvar soft tissue, with expansion (...) -
Barth syndrome
22 October 20043-alphamethylglutaconicaciduria type II, MGA type II, type II X-linked 3-methylglutaconicaciduria, BTHS, X-linked cardioskeletal myopathy and neutropenia
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Huntington disease
22 September 2003Huntington’s disease, Huntington’s chorea
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incomplete androgen insensitivity
13 June 2003Macroscopical synopsis:
male phenotype with cryptorchidism
clitoromegaly
posterior labial fusion -
schizophrenia
22 September 2003Schizophrenia, which affects about 1.5 percent of the U.S. population, can result in a variety of symptoms that include disrupted thinking, hallucinations, delusions and abnormal speech. The disease is thought to have genetic links but usually does not manifest itself until adolescence or early adulthood.
Genetics
Initial gene links for schizophrenia were reported nearly a decade ago, after researchers at Julius-Maximilian University of Würzburg in Germany found a common mutation on the (...) -
campomelic dysplasia
14 January 2005campomelic dysostosis, camptomelic dysplasia, camptomelic syndrome, campomelic dwarfism
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Fryns syndrome
17 May 2004variable multiple congenital anomaly syndrome, MCA syndrome
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