Fabry Disease: eMedicine Pediatrics: Genetics and Metabolic Disease

Noonan Syndrome: eMedicine Pediatrics: Genetics and Metabolic Disease

emedicine.medscape.com — “Overview: Noonan syndrome was first recognized as a unique entity in 1963 when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. These patients were previously thought to ...” View full resource at emedicine.medscape.com

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

Carnitine Deficiency: eMedicine Pediatrics: Genetics and Metabolic Disease

emedicine.medscape.com — “Overview: Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and derived from meat and dairy products in the diet. It plays an essential role in the transfer of long-chain ...” View full resource at emedicine.medscape.com

Most Recently Shared on April 15, 2010 at 9:23 pm By:

Check out our updated article on Carnitine Deficiency at http://bit.ly/chiaUG. #pediatrics #health #medicine

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:

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:

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:

New information has been added to the Kearns-Sayre Syndrome topic at eMedicine. http://bit.ly/bRQBkj

Thanatophoric Dysplasia: eMedicine Pediatrics: Genetics and Metabolic Disease

emedicine.medscape.com — “Overview: Thanatophoric dysplasia (TD) is the most common form of skeletal dysplasia that is lethal in the neonatal period. The term, thanatophoric, derives from the Greek word thanatophorus, which means death bringing or death bearing. Some salient ...” View full resource at emedicine.medscape.com

Most Recently Shared on November 9, 2009 at 10:27 pm By:

New information added to the eMedicine topic Thanatophoric Dysplasia at eMedicine http://bit.ly/3dgTa9

Osteogenesis Imperfecta: eMedicine Pediatrics: Genetics and Metabolic Disease

emedicine.medscape.com — “Overview: Osteogenesis imperfecta (OI) is disorder of congenital bone fragility caused by mutations in the genes that codify for type I procollagen (ie, COL1A1 and COL1A2). The following 4 types of osteogenesis imperfecta have been reported:1Type ...” View full resource at emedicine.medscape.com

Most Recently Shared on October 16, 2009 at 9:39 pm By:

Differentiating between child abuse and Osteogenesis Imperfecta can be a challenge. Check out the article at eMedicine http://bit.ly/3jClXz

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:

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:

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:

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:

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:

The Lowe Syndrome eMedicine topic has been updated with new information for 2009. http://bit.ly/bWZqq #pediatrics #health #medicine