Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

Abstract

A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried out at a local hospital at gestational age 12 weeks showed no signs of CCD. A 3D ultrasound examination in week 15+4 showed a fetus with typical CCD features including large fontanelles, lack of nasal bones, clavicles without the typical S-form, as well as severe delay in calvarial ossification, especially in the midline. Serial 3D ultrasound examinations during pregnancy confirmed the diagnosis, and over time the manifestations became even more distinct. The diagnosis was clinically confirmed at birth. This case suggests that the typical craniofacial CCD traits, including wide unmineralized areas in the calvarial midline and missing nasal bones, are easily recognizable using 3D ultrasound as early as in week 15.

Application of three‐dimensional computed tomography in craniofacial clinical practice and research

“…ventricle size) and other abnormalities in infants (e.g. cleidocranial dysplasia and craniosynostosis) …”

Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review

“…CCD spectrum disorder can be diagnosed prenatally. In case of a positive family history, prenatal ultrasound can be used to identify abnormal skull ossification combined with short clavicles in a fetus, to establish an early diagnosis (Hassan et al, 1997;Hermann et al, 2009). However, our patient was not diagnosed during antenatal care.…”

Sporadic Cleidocranial Dysplasia in a Newborn: A 4-Year Follow-up Study

“…The features of CCD are detectable on prenatal ultrasound examination 11) . A positive family history has been reported in most recorded cases of prenatally diagnosed CCD 5,11,12) . Nonetheless, in this case, there was no family history to predict hypoplastic bone disease, and the only unusual finding on prenatal examination was shorter length of the femur than that expected for the gestational age.…”