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Noonan Syndrome - American Family Physician

Jan 1, 2014 - Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high...

American Family Physician : Article

https://www.aafp.org/afp/2014/0101/p37.html

Expanded Newborn Screening: Information and Resources for the Family Physician - ...

Jun 1, 2017 - Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own ...

American Family Physician : Article

https://www.aafp.org/afp/2017/0601/p703.html

Role of the Family Physician in the Care of Children with Down Syndrome - American ...

Dec 15, 2014 - Down syndrome is the most common chromosomal abnormality, occurring in one in 691 live births in the United States each year. Prenatally, the sequential contingent test for aneuploidy screening is highly sensitive for Down syndrome and has a low false-positive rate. The diagnosis should...

American Family Physician : Article

https://www.aafp.org/afp/2014/1215/p851.html

Cerebral Palsy: An Overview - American Family Physician

Jan 1, 2006 - The presentation of cerebral palsy can be global mental and physical dysfunction or isolated disturbances in gait, cognition, growth, or sensation. It is the most common childhood physical disability and affects 2 to 2.5 children per 1,000 born in the United States. The differential ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0101/p91.html

Opportunities to Improve Outcomes in Sickle Cell Disease - American Family Physician

Jul 15, 2006 - Sickle cell disease represents a spectrum of inherited hemoglobin disorders. The pathophysiology involves abnormalities not just in red blood cells but also vascular endothelium, white blood cell function, coagulation, and inflammatory response. Known sequelae of sickle cell disease ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0715/p303.html

Down Syndrome: Prenatal Risk Assessment and Diagnosis - American Family Physician

Aug 15, 2000 - Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for Down syndrome must be voluntary. A nondirective approach should be used when presenting patients ...

American Family Physician : Article

https://www.aafp.org/afp/2000/0815/p825.html

Recognition and Management of Hereditary Hemochromatosis - American Family Physician

Mar 1, 2002 - Hereditary hemochromatosis is the most common inherited single-gene disorder in people of northern European descent. It is characterized by increased intestinal absorption of iron, with deposition of the iron in multiple organs. Previously, the classic description was combined diabetes ...

American Family Physician : Article

https://www.aafp.org/afp/2002/0301/p853.html

Primary Care of Infants and Young Children with Down Syndrome - American Family Physician

Jan 15, 1999 - Down syndrome is caused by triplicate material of chromosome 21. The syndrome has a variable physical expression, but congenital cardiac defects, transient myelodysplasia of the newborn and duodenal atresia are highly specific for this chromosomal disorder. Routine health maintenance is...

American Family Physician : Article

https://www.aafp.org/afp/1999/0115/p381.html

Screening for Genetic Risk of Breast Cancer - American Family Physician

Jan 1, 1999 - Approximately 10 to 15 percent of all breast cancers are thought to be familial and about one third of these cases are due to an inherited mutation in a BRCA1 or BRCA2 breast cancer-susceptibility gene. The lifetime incidence of breast cancer in mutation carriers is above 50 percent, ...

American Family Physician : Article

https://www.aafp.org/afp/1999/0101/p99.html

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