Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly.
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.
Takikawa
Keiko Miyachi
KM
Department of Obstetrics, Center for Perinatal Medicine, Nagano Children's Hospital, Nagano, Japan.
Kikuchi
Akihiko
A
Yokoyama
Akiko
A
Ono
Kyoko
K
Iwasawa
Yuki
Y
Sunagawa
Sorahiro
S
Takagi
Kimiyo
K
Kawame
Hiroshi
H
Nakamura
Tomohiko
T
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