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.
Toddler With Elfin Face, Cardiovascular Abnormalities, Hypercalcemia,
and Developmental Delays
November 23, 2009
Four-year-old boy born at 35 weeks’ gestation to a gravida 2, para 1, 23-year-old mother via emergency cesarean delivery because of fetal distress. Birth weight, 1670 g (3 lb 11 oz). Apgar scores, 8 and 9 at 1 minute and 5 minutes, respectively. At birth, child found to have supravalvular aortic stenosis, peripheral pulmonary stenosis, and ventricular septal defect. Gastroesophageal reflux, laryngomalacia, bilateral inguinal hernias, hypothyroidism, hypercalcemia, growth retardation, and developmental delays noted at various times during the first 4 years of life. Family history, unremarkable.
Newborn With Wrinkled Abdomen and Other Anomalies
September 20, 2009
A 1909-g (4.3-lb) boy born at 29 weeks' gestation to a 14-year-old gravida 1, para 0 mother via cesarean delivery because of fetal bradycardia. Results of antenatal screening were negative. Mother denied substance abuse. Prenatal ultrasonography showed bilateral hydronephrosis, dilated fetal bladder, bilateral clubbed feet, and polyhydramnios.
Happy 4-Year-Old Girl With Developmental Delays, Hand Flapping
October 31, 2008
This 4-year-old girl was born to a 27-year-old gravida, 1 para 0 mother at 37 weeks' gestation via vaginal delivery. The pregnancy was uncomplicated. Apgar scores were 8 at 1 minute and 9 at 5 minutes. The child's birth weight, head circumference, and length were 3045 g, 33 cm, and 50 cm, respectively. Her mother noted global developmental delays (particularly in the areas of speech and fine motor skills), abnormal sleep habits, obstructive sleep apnea, and seizure disorder. Family history was unremarkable.
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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