With genetic tests 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 follow 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.
Digital extension; joint hypermobility; skin elasticity with keloid scars; pectus and scoliosis from skeletal flexibility and deformation; these disparate symptoms and findings point to what diagnosis?
A 2-year-old girl has been followed for developmental delays and slow weight gain by her pediatrician and early childhood intervention therapists. The 17-year-old, first-time mother was also a runaway and had avoided early prenatal care. More details and questions for you, here.
Two-month-old boy with divot in the lower back, shown here with the gluteal crease relaxed (A) and spread (B). Infant is a product of an uncomplicated pregnancy and delivery. Nursery stay uneventful. Subsequent feeding and growth normal. Parents report no problems with urination or defecation.