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Prenatal diagnosis of achondroplasia and hypochondroplasia using three-dimensional computed tomography: a case series at a single institution.
Quant Imaging Med Surg
December 2024
Department of Obstetrics and Gynecology, Graduate School of Medicine Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Background: Fetal skeletal dysplasia (FSD) is a group of systemic bone and cartilage disorders that develop prenatally and can be detected using fetal ultrasonography. However, it is unsuitable for skeletal analysis because it is reflected by supersonic waves in the bone cortex. Three-dimensional computed tomography (3D-CT) is a suitable alternative and has improved the differential diagnosis of FSD during pregnancy.
View Article and Find Full Text PDFDysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).
Congenit Anom (Kyoto)
November 2014
Department of Obstetrics & Gynecology, AUSL Reggio Emilia, Guastalla, Italy.
Prenatal diagnosis of thanatophoric dysplasia (TD) type II presenting in the first trimester with increased nuchal translucency (NT) and cloverleaf skull (Kleeblattschaedel) have been scantly reported in the medical record. Abnormal choroid plexus has been seen in association with fetal anomalies. Here we described a case of increased NT associated with indented choroid plexuses, early onset hydrocephalus and cloverleaf skull in a fetus subsequently diagnosed at early second trimester to carry a de novo mutation encoding for TD type II.
View Article and Find Full Text PDFAchondroplasia: 3D-CT evaluation of the cervical spine.
Stud Health Technol Inform
January 2005
Radiology Dept, Papageorgiou General Hospital, Thessaloniki, Greece.
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