Keyword Analysis & Research: syndrome de cornelia de lange

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Frequently Asked Questions

What does Cornelia de Lange Syndrome look like?

Cornelia de Lange Syndrome. Cornelia de Lange syndrome (CdLS) is a genetic condition present at birth. It’s characterized by numerous physical, intellectual and behavioral differences. Children with CdLS usually have low birth weight, are smaller in size and height and have a smaller head circumference (microcephaly).

What is Brachmann-de Lange syndrome?

The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it in 1933. It is often termed Brachmann de Lange syndrome or Bushy syndrome and is also known as Amsterdam dwarfism.

Which cardiologic findings are characteristic of Cornelia de Lange syndrome (CdLS)?

Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested. Cornelia de Lange syndrome: Congenital heart disease in 149 patients Med Clin (Barc).

Who is the director of the Cornelia de Lange Foundation?

NORD gratefully acknowledges Antonie Kline, MD, Medical Director, Cornelia de Lange Syndrome (CdLS) Foundation, Inc., Director of Pediatric Genetics, Harvey Institute of Human Genetics, Greater Baltimore Medical Center, for assistance in the preparation of this report.


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