title: Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.
abstract: OBJECTIVE
  Seckel syndrome is a rare form of primordial dwarfism and most of the previous reports have been limited to postnatal findings. We report on a fetus showing severe microcephaly, intrauterine growth restriction and a few gyri with shallow sulci on the fetal brain suggesting cortical dysplasia, followed by ultrasound and magnetic resonance imaging in the prenatal period.
  
  
  RESULTS
  Cardiotocograph revealed a reassuring fetal status throughout the whole pregnancy period. A male infant weighing 1,556 g was delivered at 39 weeks' gestation, and a diagnosis of Seckel syndrome was made based on postnatal typical findings. Although previous reports on prenatal findings of Seckel syndrome are quite limited, we think that our case presents typical features of a fetus affected by this syndrome.
  
  
  CONCLUSIONS
  When prenatal ultrasound shows severe microcephaly and intrauterine growth restriction, this rare syndrome should be included in the differential diagnosis. Moreover, magnetic resonance imaging of the affected fetal brain provides further diagnostic clues.
authors.affiliation: Department of Obstetrics, Center for Perinatal Medicine, Nagano Children's Hospital, Nagano, Japan.
authors.forename: Keiko Miyachi
authors.initials: KM
authors.lastname: Takikawa
authors.forename: Akihiko
authors.initials: A
authors.lastname: Kikuchi
authors.forename: Akiko
authors.initials: A
authors.lastname: Yokoyama
authors.forename: Kyoko
authors.initials: K
authors.lastname: Ono
authors.forename: Yuki
authors.initials: Y
authors.lastname: Iwasawa
authors.forename: Sorahiro
authors.initials: S
authors.lastname: Sunagawa
authors.forename: Kimiyo
authors.initials: K
authors.lastname: Takagi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawame
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Nakamura
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D005317:Fetal Growth Retardation / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D012720:Severity of Illness Index; D013577:Syndrome; D016216:Ultrasonography, Prenatal