An echo-poor spine at 13 weeks: an early sign of cleidocranial dysplasia.
OBJECTIVE
Early prenatal diagnosis of cleidocranial dysplasia (CCD) in a case in which molecular genetic analysis of the RUNX2 gene was non-informative.


METHODS
2D ultrasound examination.


RESULTS
At week 13+6, a 2D ultrasound examination revealed a fetus with severely delayed ossification of the vertebral spine. The clavicles were barely seen and the calvarial bones were significantly less ossified than expected for gestational age. The fetus had otherwise normal anatomy and biometry. Serial ultrasound examinations during pregnancy confirmed the diagnosis, but the manifestations became less distinct. The diagnosis was confirmed clinically at birth.


CONCLUSIONS
This case illustrates an early easily recognizable pattern of severely delayed ossification of the vertebral spine, which is probably a characteristic of CCD.
Hove
H D
HD
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark. hanne.dahlgaard.hove@rh.regionh.dk
Hermann
N V
NV
Jørgensen
C
C
Kreiborg
S
S
Sundberg
K
K
D000328:Adult; D002585:Cesarean Section; D002968:Clavicle / Q000000981:diagnostic imaging; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D050498:Live Birth; D010012:Osteogenesis; D010375:Pedigree; D011247:Pregnancy; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging* / Q000196:embryology; D016216:Ultrasonography, Prenatal
D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human