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Germaine L. Defendi, MD, MS




Hypopigmented Patches in Infant With a History of Seizures

December 01, 2008

Four-month-old Hispanic boy brought for evaluation because of hypopigmented patches on his skin and a history of seizures. Infant was the product of an uncomplicated pregnancy; born at 40 weeks' gestation to a 16-year-old gravida 1, para 1 mother who received appropriate prenatal care. At birth, he had multiple hypopigmented patches on his face, torso, and extremities. At age 2 months, he was hospitalized for new-onset seizures.

Genetic Disorders: Tetany in a 9-Year-Old Girl

September 01, 2006

A 9-year-old girl presented with a 3-hour history of unremitting severe cramping in her hands and legs. A similar episode occurred a month earlier, but it resolved with massage.

WHAT'S YOUR DIAGNOSIS? Six-month-old girl with dysmorphic appearance referred for genetic evaluation

February 01, 2006

Six-month-old girl with dysmorphic appearance referred for genetic evaluation. Child is a product of a fraternal twin pregnancy; born at 41 weeks gestational age. Mother, age 32, received no prenatal care. Paternal age, 41 years.