Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19856318.
- Also identified by DOI 10.1002/uog.7452.
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Abstract
Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia. Within the heterogeneous group of chondrodysplasia punctata, the brachytelephalangic type is noteworthy because it has a better prognosis than do the other types. We report a case of brachytelephalangic chondrodysplasia punctata diagnosed by ultrasound imaging at 30 weeks' gestation; it was associated with polyhydramnios and a normal cervical spinal canal. Imaging features are described and differential diagnosis with other forms of chondrodysplasia punctata is discussed.
Medical subject headings
- Chondrodysplasia Punctata
- Polyhydramnios