Developmental/Genetic Disorders

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.

A 2-year-old girl has been followed for developmental delays and slow weight gain by her pediatrician and early childhood intervention therapists. She was the product of the first pregnancy of a single mother, age 17, who had run away from home and who had avoided early prenatal care.

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.

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).

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.

A 4 1/2 year-old Hispanic boy is referred to the pediatric clinic because of failure to thrive and growth retardation. He was born at full-term in Mexico and weighed 1.9 kg at birth (lower than the 3rd percentile).

A 10-month old white child was admitted for evaluation of an enlarged abdomen, splenomegaly, and developmental delay. The child had a normal gestation and birth weight. He had a right hydrocele at birth and rapid scrotal enlargement at age 3 months that led to repair of a right inguinal hernia.

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.

Bernard B is 4-years-old and has been followed by his pediatrician for a diagnosis of motor and speech delay.

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.

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?