Cornelia de Lange syndrome.Case reviewin a neonatology service patient of l Carlos Andrade Marín Hospita in the year 2018.

Abstract

Abstract

Cornelia de Lange Syndrome (CLS) is a cohesinopathy. Mutations associated with this group of syndromes alter the repair and regulation of the genetic expression of DNA.  It is a syndrome of low prevalence, which varies between 1:10.000 to 1:62:000 live births. ⁽¹⁾ In Ecuador there is no national CLS registry, so it´s prevalence an incidence are unknown.

It is important to point out that the syndrome has a wide variability in phenotypic expression that ranges from mild to severe symptoms, which leads to subdiagnosis , in both prenatal and postnatal stages,  representing a challenge for its early identification. It is essential to recognize this syndrome early to provide timely and comprehensive management to the patient.

I will carry out the case report of a male patient, newborn, first pregnancy product of 38,4 weeks gestation, diagnosed intrauterine growth restriction, presence of single umbilical artery, cerebellar vixal hypoplasia and megacistercal magna. At the physical examination, after birth, clinical features consistent with Cornelia de Lange Syndrome were observed. The patient remained hospitalized to complement his studies an corroborate the diagnosis.