Disease

Articles

• Goldberg-Shprintzen syndrome
  25 June 2005

  Definition: 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 (...)

• hereditary hemorrhagic telangiectasia
  3 October 2003

  HHT, Osler-Weber-Rendu disease, Rendu-Osler disease

• chalazion
  11 March 2004

  meibomian gland lipogranuloma

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• trisomy 22
  9 May 2005

  Trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality.
  Types
  non-mosaic (...)

• juvenile nephronophthisis
  27 October 2003

  Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
  Synopsis
  medullary cystic disease renal medullary cysts renal corticomedullary cysts renal interstitial fibrosis renal tubular atrophy relatively spared glomeruli
  nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis
  Variants (...)

• congenital hyperinsulinism
  24 April 2004

  congenital hyperinsulinisms, CHI, PHHI, Persistent Hyperinsulinemic Hypoglycemia of Infancy

• Rosai-Dorfman disease
  16 December 2003

  sinus histiocytosis with massive lymphadenopathy

• adenovirus-associated intestinal intussusception
  11 May 2005

  References
  Montgomery EA, Popek EJ. Intussusception, adenovirus, and children: a brief reaffirmation. Hum Pathol. 1994 Feb;25(2):169-74. PMID: #8119717#
  Porter HJ, Padfield CJ, Peres LC, Hirschowitz L, Berry PJ. Adenovirus and intranuclear inclusions in appendices in intussusception. J Clin Pathol. 1993 Feb;46(2):154-8. PMID: #8384641#

• tufting enteropathy
  14 December 2006

  intestinal epithelial dysplasia; DIAR5; congenital tufting enteropathy; intestinal epitelial cell dysplasia
  Definition: Intestinal epithelial dysplasia, or tufting enteropathy, is a clinicopathologic entity associated with refractory diarrhea in infants. This rare congenital enteropathy is present in the first few months of life with chronic watery diarrhoea and impaired growth. The molecular basis for this condition is not known.
  Congenital tufting enteropathy (CTE) can be caused by (...)

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