Offered by: Nemours Children's
Location: Delaware Valley
Costello Syndrome: Clinical and Molecular Investigations
This study is to learn how Costello syndrome affects patients and the genetic cause. This information may help develop better patient treatment plans.
Both males and females with Costello syndrome, or some findings seen in Costello syndrome, can be included in this study. For the developmental testing, the participants have to be at least 2 years old.
Study participation will include ongoing collection of medical record information, physical exam, parent and patient interviews and developmental testing, collection of tissue samples from surgical procedures already being performed, collection of blood or spit for genetic testing. We expect to interview, examine and test most of the participants at the time of the International Costello Syndrome Meeting. We will also enroll additional participants through the Costello Program at Nemours Children's Hospital, Delaware, and by referral of colleagues.
Trial Name: Costello Syndrome: Clinical and Molecular Investigations
IRB#: 82077
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