These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.
    Author: Takikawa KM, Kikuchi A, Yokoyama A, Ono K, Iwasawa Y, Sunagawa S, Takagi K, Kawame H, Nakamura T.
    Journal: Fetal Diagn Ther; 2008; 24(4):405-8. PubMed ID: 18984961.
    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.
    [Abstract] [Full Text] [Related] [New Search]