Description of a case of Cornelia de Lange syndrome. Contribution to better ante-natal and post-natal diagnoses

Introduction: Cornelia of Lange syndrome is an unusual polimalformative disorder that shows facial hypertrichosis, thin upper lip, micromelic extremities, intra-uterine growth restriction and postnatal growth retardation. This syndrome shows wide phenotypical findings and its etiology remains unknown. Most of the cases are sporadic and the diagnosis is fundamentally a clinical one. Clinical case: This is the case of a new born product of a G1 P0 A0, 16 year-old mother on her third trimester of pregnancy. Ultrasound showed symmetrical and severe intra-uterine growth restriction, oligohydramnios and altered circulation of the umbilical and cerebral arteries. Because of these findings, a cesarean section was performed at the Hospital of Universidad del Valle. The new born died after twenty minutes, and the autopsy was done 6 hours later. Discussion: The findings of the autopsy, radiology, kariotype and mother’s clinical history indicated that this corresponded to a Cornelia of Lange syndrome type I or classic type. In accordance with literature review, features suggesting this entity in the obstetric sonography and in physical examination of the new born were selected since they can lead to an accurate diagnosis.