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Cornelia de Lange syndrome - characteristics and laparoscopic treatment modalities of reflux based on own material.

Wideochir Inne Tech Maloinwazyjne

September 2011

Department of General, Thoracic and Vascular Surgery, 10 Military Teaching Hospital and Clinics, Bydgoszcz, Poland ; Chair of Public Health, Department of Health Sciences, Collegium Medicum , Nicolaus Copernicus University, Bydgoszcz, Poland.

Cornelia de Lange syndrome (typus degenerativus amstelodamensis, CdLS, Brachmann syndrome) is a complex, congenital, multi-gene anomaly characterized by mental retardation. Its features include growth inhibition, hirsutism, structural anomalies of the limbs and abnormal development of osseous structures of the face. Independent of the phenotype of the disease, 85% of patients are assumed to have symptoms of gastroesophageal reflux disease (GERD).

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Five cases with Brachmann-de Lange's syndrome are reported. The main idea is to point out the most important clinical, radiological, anatomico-pathological and genetic characteristics. The first three cases were studied at the Hospital de Especialidades of the I.

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