An Echo-Poor Spine at 13 Weeks: An Early Sign of Cleidocranial Dysplasia
| Autor: | Hanne Hove, Connie Jørgensen, S. Kreiborg, Karin Sundberg, Nuno V. Hermann |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Embryology Core Binding Factor Alpha 1 Subunit Gestational Age Prenatal diagnosis Ultrasonography Prenatal Osteogenesis Pregnancy Humans Medicine Radiology Nuclear Medicine and imaging Rachis Fetus Cleidocranial Dysplasia Cesarean Section business.industry Ossification Skull Obstetrics and Gynecology General Medicine Anatomy medicine.disease Clavicle Osteochondrodysplasia Spine Pedigree Vertebra medicine.anatomical_structure Pediatrics Perinatology and Child Health Female medicine.symptom business Live Birth |
| Zdroj: | Fetal Diagnosis and Therapy. 24:103-105 |
| ISSN: | 1421-9964 1015-3837 |
| DOI: | 10.1159/000142137 |
| Popis: | 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. Conclusion: This case illustrates an early easily recognizable pattern of severely delayed ossification of the vertebral spine, which is probably a characteristic of CCD. |
| Databáze: | OpenAIRE |
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