diagnose apert s syndrome

schaaf · Newbie Joined: 02 Jun 2005 Posts: 19

My very good friend just delivered baby boy. He has been diagnosed with Apert syndrome. I am very sad and concerned about him and her too. How is it possible that they didn’t predict this? As I know this is a congenital disease. I want to know on what base diagnose are made for Apert syndrome if there is no reports of disease in medical history?

mabry · Newbie Joined: 10 Jul 2005 Posts: 18

Apert Syndrome can be diagnosed directly at birth. It is mostly owing to the appearance of the face, but particularly of the hands and feet. The combination of skull and face malformations with fusions of the fingers and toes distinguishes this syndrome from other craniofacial malformation syndromes; prenatal diagnostics is possible.

diagnose apert s syndrome

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