Noonan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease
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Noonan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease
View full resource at emedicine.medscape.com
Tags: Heart, Heart Disease, Congenital Heart Defect, Genetic, Metabolic, Noonan Syndrome, Disease and Condition, Children's Health
Most Recently Shared on April 16, 2010 at 9:23 pm By:
We've updated our Noonan Syndrome article at http://bit.ly/b4v8vy. #pediatrics #genetics #geneticdisease
Down Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease
emedicine.medscape.com — “Overview: In 1866, Down described clinical characteristics of the syndrome that now bears his name.In 1959, Lejeune and Jacobs et al independently determined that trisomy 21 is the cause.1, 2Down syndrome is by far the most ...” View full resource at emedicine.medscape.com
Most Recently Shared on March 23, 2010 at 9:53 pm By:
Medscape Pediatrics Health Site and Pediatrics
New information added to the eMedicine article on Down Syndrome at http://bit.ly/d5mijZ
Turner Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease
emedicine.medscape.com — “Overview: In 1938, Henry Turner first described Turner syndrome, which is one of the most common chromosomal abnormalities.1 More than 95% of adult women with Turner syndrome exhibit short stature and infertility.{{mediatitle:949774_1}}{{media:949774_1}}{{mediacaption:949774_1}} {{mediatitle:949775_2}}{{media:949775_2}}{{mediacaption:949775_2}} {{mediatitle:949776_3}}{{media:949776_3}}{{mediacaption:949776_3}} Pathophysiology Turner ...” View full resource at emedicine.medscape.com
Most Recently Shared on March 4, 2010 at 10:35 pm By:
Medscape Pediatrics Health Site and Pediatrics
Turner Syndrome, one of the most common chromosomal abnormalities, is explored in the eMedicine article at http://bit.ly/b8vxvC
Kearns-Sayre Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease
emedicine.medscape.com — “Overview: Kearns-Sayre syndrome (KSS) is characterized by the onset of ophthalmoparesis and pigmentary retinopathy before age 20 years. Other frequently associated clinical features include cerebellar ataxia, cardiac conduction block, raised cerebrospinal fluid (CSF) protein content, and proximal ...” View full resource at emedicine.medscape.com
Most Recently Shared on February 8, 2010 at 8:54 pm By:
Medscape Pediatrics Health Site and Pediatrics
New information has been added to the Kearns-Sayre Syndrome topic at eMedicine. http://bit.ly/bRQBkj
Chromosomal Breakage Syndromes: eMedicine Pediatrics: Genetics and Metabolic Disease
emedicine.medscape.com — “Overview: Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. In culture, cells from affected individuals exhibit elevated rates of chromosomal breakage or instability, leading to chromosomal ...” View full resource at emedicine.medscape.com
Most Recently Shared on August 24, 2009 at 9:49 pm By:
Medscape Pediatrics Health Site and Pediatrics
The eMedicine topic Chromosomal Breakage Syndrome has been updated! Check it out at http://bit.ly/imaB3!
Prader-Willi Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease
emedicine.medscape.com — “Overview: Prader-Willi syndrome (PWS) is a disorder caused by a deletion or disruption of genes in the proximal arm of chromosome 15 or by maternal disomy in the proximal arm of chromosome 15. Commonly associated characteristics of ...” View full resource at emedicine.medscape.com
Most Recently Shared on July 29, 2009 at 8:42 pm By:
Medscape Pediatrics Health Site and Pediatrics
Some new evidence and information added to the Prader-Willi Syndrome eMedicine article. http://bit.ly/dgiLJ #genetics #health #pediatrics
Klippel-Trenaunay-Weber Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease
emedicine.medscape.com — “Overview: Numerous rare congenital defects of skin, blood vessels, and underlying soft tissue are noted. Klippel-Trenaunay syndrome (KTS) is defined by the presence of a combined vascular malformation of the capillaries, veins, and lymphatics, congenital venous abnormalities, ...” View full resource at emedicine.medscape.com
Most Recently Shared on July 27, 2009 at 5:17 pm By:
Medscape Pediatrics Health Site and Pediatrics
Klippel-Trenaunay-Weber Syndrome is a rare syndrome but the eMedicine article has been updated with new info at http://bit.ly/rjkWF. #health
Mucopolysaccharidosis Type II: eMedicine Pediatrics: Genetics and Metabolic Disease
emedicine.medscape.com — “Overview: Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders collectively termed mucopolysaccharidoses (MPSs). The MPSs are caused by a deficiency of lysosomal enzymes required for the degradation ...” View full resource at emedicine.medscape.com
Most Recently Shared on July 15, 2009 at 9:36 pm By:
Medscape Pediatrics Health Site and Pediatrics
Mucopolysaccharidosis Type II article over at eMedicine has been updated. http://bit.ly/VTYYW #genetics #pediatrics #health #medicine
Oculocerebrorenal Dystrophy (Lowe Syndrome): eMedicine Pediatrics: Genetics and Metabolic Disease
emedicine.medscape.com — “Overview: In 1952, Lowe and colleagues described an infant with congenital cataracts and mental retardation. When more patients were described, the phenotype was expanded to include the renal tubular defects that comprise Fanconi syndrome, and an X-linked ...” View full resource at emedicine.medscape.com
Most Recently Shared on July 15, 2009 at 7:45 pm By:
Medscape Pediatrics Health Site and Pediatrics
The Lowe Syndrome eMedicine topic has been updated with new information for 2009. http://bit.ly/bWZqq #pediatrics #health #medicine
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