Perinatal findings of Seckel syndrome: A case report of a fetus showing primordial dwarfism and severe microcephaly

Keiko Miyachi Takikawa, Akihiko Kikuchi, Akiko Yokoyama, Kyoko Ono, Yuki Iwasawa, Sorahiro Sunagawa, Kimiyo Takagi, Hiroshi Kawame, Tomohiko Nakamura

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

Objective/Methods: 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.

Original languageEnglish
Pages (from-to)405-408
Number of pages4
JournalFetal diagnosis and therapy
Volume24
Issue number4
DOIs
Publication statusPublished - 2009 Jan 1
Externally publishedYes

Keywords

  • Intrauterine growth restriction
  • Magnetic resonance imaging
  • Microcephaly
  • Seckel syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynaecology

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