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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

When to Suspect a Genetic Syndrome - American Family Physician

Nov 1, 2012 - Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. General themes that can alert family ...

American Family Physician : Article

https://www.aafp.org/afp/2012/1101/p826.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

Inborn Errors of Metabolism in Infancy and Early Childhood: An Update - American Family...

Jun 1, 2006 - Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0601/p1981.html

Issues in Newborn Screening for Phenylketonuria - American Family Physician

Oct 1, 1999 - The blood sample for phenylketonuria (PKU) screening should be obtained at least 12 hours after the infant's birth. Newborn screening for PKU has largely eliminated mental retardation caused by this disease. If the first phenylalanine test demonstrates positive results, a repeat test ...

American Family Physician : Article

https://www.aafp.org/afp/1999/1001/p1462.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

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