Division of Human Genetics News and Updates

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Unexplained Childhood Obesity? Consider Genetic Causes

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James is a 3-year-old male with developmental delay and rapid weight gain/obesity. Prenatal history was unremarkable. His birth weight was 50th percentile and length was 90th percentile at birth. Soon after birth, he started showing feeding difficulties, poor suck/coordination, and aspiration.

Uncovering Lysosomal Storage Diseases Beyond Newborn Screening

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Jaden was a 4-year-old who presented to his PCP’s office with a persistent cough following an upper respiratory infection. Parents reported Jaden also had easy bruising, a symptom they had also noted after he had started walking.