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Genetic Disorders

Genetic Disorders

Early identification of childhood disorders is essential for achieving the best possible outcomes. This week’s photo quiz tests your ability to recognize some of the possible presentations.

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?

Low muscle tone, delayed motor milestones, and failure to gain weight. The mother was 38 at the time of delivery, but nothing else is noteworthy about this 9-month-old.

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.

A baby boy born after normal vaginal delivery at 36 weeks’ gestation was noted to have a distinct abdominal wall lesion. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively.

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.

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