Golder Wilson, MD, is Professor of Pediatrics and Obstetrics & Gynecology at Texas Tech University Health Sciences Center, Amarillo and Lubbock (Pediatrics) and has a KinderGenome private practice in Dallas.
Infant with Hypotonia, Hypogonadism, and Developmental Delay
March 9, 2012
You have been following a 9-month-old with low muscle tone, delayed motor milestones, and failure to gain weight. Her family and gestational histories are normal except that her mother was 38 at the time of pregnancy; the child has 4 healthy siblings.
Premature Infant with Motor Delays
August 1, 2011
This 1-year-old African-American boy is being followed for developmental delays. His 35-year-old mother has no known health problems, and this was her third pregnancy.Premature delivery at 27 weeks was uncomplicated, yielding appropriate birth weight and Dubowitz scores for gestational age.
July 1, 2011
This 7-year-old boy was brought in for a routine well-child visit. His history included profound sensorineural hearing loss, (for which he had received cochlear implants) and congenital heart disease (a small ventricular septal defect, subaortic ridge, right ventricular conduction delay, and mild left ventricular dilatation).
Ear Anomalies and Neck Sinuses in a Newborn
July 1, 2011
A newborn male had "cup-shaped ears" and draining neck sinuses that were partially closed by age 3 months. At birth, the child weighed 8 lb 4 oz after a 39-week gestation that was complicated by a single abnormal diabetes screen.
Genetic Disorders: Recognition and (Yes!) Therapy
June 24, 2011
Genetic diseases are individually rare but common in the aggregate. They account for over 60% of early miscarriages and underlie most cases of developmental delays. Genetic changes predispose to common multifactorial disorders, such as diabetes mellitus or schizophrenia, and are present in every cancer.
December 20, 2010
This 16-year-old boy with nailpatella syndrome (NPS) presented for routine follow-up. As an infant, he had surgical correction for clubfeet. For the past month, he had had intermittent bilateral foot and ankle pain and some knee and hip discomfort.
Podcast: Guide to the New NIH Online Directory of Genetic Tests
April 12, 2012
With genetic tests are rapidly entering medical practice, and some patients even ordering them on their own, the NIH has launched a Genetic Testing Registry to help doctors interpret and following up on these tests. In this interview, the director of the new Genetic Testing Registry tells why you need it, and what's there for your reference.
Podcast: New Codeine Guideline and More Help With Pharmacogenomics
April 6, 2012
A consortium called CPIC has issued a new guideline on genetic tests that can mean the difference between toxic reactions or unrelieved pain for some patients on codeine. Dr. Mary Relling tells why primary care doctors need good information right now about the links between genes and drug response, and where you can find it.
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