Prenatal Diagnosis of Cornelia de Lange Syndrome (CLS)

1. Prefeitura Municipal de Porto Alegre Secretaria Municipal de Saúde Hospital Materno Infantil Presidente Vargas Prenatal Diagnosis of Cornelia de Lange Syndrome (CLS) Authors: Telles, J A B; Cunha, A; Schwartz, I; Fauth, M; Silva, A A CLS is a rare disease with multiple congenital anomalies that has well knew characteristics. Its incidence has been reported to vary between 1:30000 and 1:50000 of live births. It has been considered to be due to a new dominant mutation. The Case: E.B.L.S, 20 years old, white, married, resident in the metropolitan region of Porto Alegre, Rio Grande do Sul, Brazil. The patient was directed from a basic unit to the Sector of Fetal Medicine of the President Vargas Hospital with a ultrasound scan made at 23 week where it were described shortened inferior members, deformities in forearm and hands, polihydramnius and just one umbilical artery. Morphologic Study Fetal at 37 weeks was carried through that evidenced short long bones, with hypotrophy of bones of forearm and hands, micrognathia, ambiguous genital, polihydramnius and asymmetry in the cut of 4 chambers. The fetal echocardiography evidenced stenosis of pulmonary artery has identified. The CLS hypothesis was suspected. The patient interned 5 days later in labor and was submitted to a cesarean. The prenatal findings had been confirmed in the examination of the newborn. Porto Alegre – RS – Brazil - Contact: jorge@telles.med.br