Prenatal 3D ultrasound diagnostics in cleidocranial dysplasia
Research output: Contribution to journal › Journal article › Research › peer-review
Standard
Prenatal 3D ultrasound diagnostics in cleidocranial dysplasia. / Hermann, Nuno Vibe; Hove, H D; Jørgensen, C; Larsen, P; Darvann, T A; Kreiborg, S; Sundberg, K.
In: Fetal Diagnosis and Therapy, Vol. 25, No. 1, 2009, p. 36-9.Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Prenatal 3D ultrasound diagnostics in cleidocranial dysplasia
AU - Hermann, Nuno Vibe
AU - Hove, H D
AU - Jørgensen, C
AU - Larsen, P
AU - Darvann, T A
AU - Kreiborg, S
AU - Sundberg, K
N1 - Keywords: Adult; Cleidocranial Dysplasia; Female; Humans; Pregnancy; Ultrasonography, Prenatal
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
U2 - 10.1159/000195634
DO - 10.1159/000195634
M3 - Journal article
C2 - 19169035
VL - 25
SP - 36
EP - 39
JO - Fetal Diagnosis and Therapy
JF - Fetal Diagnosis and Therapy
SN - 1015-3837
IS - 1
ER -
ID: 19952213