Developmental/Genetic Disorders

The children shown here have the same congenital condition. This disorder presents with increased birth weight, length, and head size, with subsequent rapid growth

Identification of this disorder can be difficult because of the wide range of effects of prenatal alcohol exposure. Here: tips on how to recognize its clinical manifestations and neurodevelopmental features and behaviors.

Three-month-old boy with multiple birthmarks and hypertrophic left arm. Infant was born at 38 weeks’ gestation to a 33-year-old gravida 2, para 1 after an uncomplicated pregnancy and normal spontaneous vaginal delivery. Birth weight, 3.45 kg; length, 53 cm. Both parents healthy, nonconsanguineous. No family history of growth abnormalities. Father had port-wine stains on nape and chest.

Otherwise healthy 9-year-old African American boy seen for first time for complaints of frequent exhaustion, particularly when climbing stairs or walking for long periods. He could no longer participate in sports because of inability to keep up with his peers. He had been toe walking and had become clumsier over the past year, tripping and falling more frequently. Besides a mild delay in walking (around 16 months), his mother had reported no outstanding gross motor delays in infancy. He was in a regular class in school, although he did receive extra help in math and reading.

A 6-year-old girl presented with tender mass on the left side of her neck that had enlarged over the past week. Her primary care doctor initially prescribed amoxicillin/clavulanate for suspected bacterial lymphadenitis. The swelling progressed, and a CT scan was ordered.

A 16-year-old boy presented for evaluation of his worsening behavior at school. He was very hyperactive and had difficulty in paying attention. He had always required help with reading and language. Maternal pregnancy and birth history were unremarkable.

A 16-year-old girl presented to the emergency department (ED) with an anaphylactic reaction to a bee sting on the right side of her neck. Within 15 minutes of her arrival, swelling, numbness, and pain developed at this site. She also had headache, shortness of breath, and vague abdominal pain associated with nausea.

A 20-month-old boy brought to the emergency department with swelling on the right side of the neck and fever (temperature, 39.3°C [102.7°F]) of 1 day’s duration. The parents reported that the child had had intermittent fevers and poor weight gain for the past 3 months but no vomiting, diarrhea, rash, drooling, or difficulty in swallowing.

A 6-month-old boy with dysmorphic facial features, ear anomalies, and hypospadias brought for evaluation of elevated temperature and generalized seizure. Infant born at term to a 37-year-old mother via uncomplicated cesarean delivery.

A 6-year-old boy presents with tall stature (97th percentile for age), motor delays (walking at 16 months), speech delays (expressive vocabulary of 30 to 40 words with recent use of 2-word phrases), and behavioral differences (poor eye contact, lack of pointing, hyperactive behavior with hand-flapping).

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.

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.

Screening tests of maternal blood for fetal genetic disorders have proliferated. What is the current role of these tests in pregnancy planning?