The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2017
Prenatal diagnosis of Seckel syndrome at 21 weeks' gestation and review of the literature.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Akkurt Mehmet Ozgur, Pakay Kaan, Akkurt Iltac, Temur Muzaffer, Korkmazer Engin
Аннотация
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).
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).