Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature

Background: The Seckel syndrome is an autosomal recessive inherited disorder that characterized severe pre- and post-natal growth restriction, microcephaly and a bird-like fetal head appearance. A few clinical reports revealed prenatal sonographic findings in the literature.Case: A 29-year-old, Turkish, gravid 3, para 2, woman was referred to our center for further evaluation of a suspicion of microcephaly at 21 weeks' gestation. The couple was third degree consanguineous. Detailed 2- and 3-dimensional sonography scan revealed a bird-headed appearance, prominent eyes with hypotelorism, a severe microcephaly (bi-parietal diameter and head circumference were both <1. Percentile for 21 weeks' gestation), a beaked nose, and increased nuchal fold thickness measurement (>95th percentile), low-set and prominent ears. All sonographic findings suggested Seckel syndrome and the couple elected termination of pregnancy in the present case.Summary: Seckel syndrome should be kept in mind in the differential diagnosis of severe microcephaly, accompanied by fetal growth restriction. 3D ultrasound is a useful adjuvant to routine 2D sonography for prenatal diagnosis of the syndrome and can delineate abnormal fetal head appearance (a bird-headed profile).