Cornelia de Lange syndrome: a case report

Abstract

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder, caused by variants of cohesin complex genes. The disease is characterized by multiple congenital anomalies, which include distinctive facial features, prenatal and postnatal growth deficiency, neuropsychomotor delay, gastroesophageal reflux disease and upper limb malformations. We describe the case of a male patient who presented phenotypic alterations compatible with the classic form of CdLS. The diagnosis can be clinically determined even in the absence of molecular confirmation. Orogastric tube and admission to a neonatal Intensive Care Unit were necessary due to difficulties with suction. Subsequently, the patient underwent gastrostomy. In patients with CdLS, strict monitoring of weight gain, cardiac and urinary tract malformations and visual and hearing deficits is essential.