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Thanatophoric dysplasia has two genetic types, but it can often be diagnosed while a baby is developing in the womb visually using just an ultrasound. That’s because thanatophoric dwarfism is one of the most common lethal skeletal dysplasias. Babies with this type of dysplasia have a severe growth deficiency, and they will need a ventilator to help them breathe once they’re born. At Nemours Children's, our skeletal dysplasia experts work with palliative care specialists to focus on the comfort of seriously ill children. We create medical care plans and offer guidance for the whole family.

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Why Choose Us

Nemours has been recognized for delivering advanced pediatric orthopedic care since 1940. Families from all over the world travel to see our skeletal dysplasia experts. Our doctors have the experience to support families, while they care for even the most severe types of skeletal dysplasia, like thanatophoric dysplasia. Our pediatric teams work together to create a personalized care plan that addresses the needs of your child and family, delivered with compassion.

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