ArticleAmerican journal of medical genetics. Part A2008
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.
Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 87 citations in OpenAlex.
- Pathways to enhancing prenatal diagnosis of skeletal dysplasias.Pregnancy (Hoboken, N.J.) · 2026Review
- The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia.Prenatal diagnosis · 2025Article
- Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia.Pediatric radiology · 2024Article
- Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports.Annals of medicine and surgery (2012) · 2023Article
- Prenatal diagnosis of bone dysplasias.The British journal of radiology · 2023Review
- Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.BMC medical genomics · 2021Article
- Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.Pediatric radiology · 2019Review
- Fetal Skeletal Lethal Dysplasia: Case Report.Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia · 2017Review
- Skeletal Dysplasias: Growing Therapy for Growing Bones.Frontiers in pharmacology · 2017Review
- Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Prenatal diagnosis of hypophosphatasia congenita using ultrasonography.Ultrasonography (Seoul, Korea) · 2016Article
- Skeletal dysplasias.Clinics in perinatology · 2015Review
- Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia.Journal of medical ultrasonics (2001) · 2015Article
- Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.Skeletal radiology · 2014Article
- Advances in evaluating the fetal skeleton.International journal of women's health · 2014Review
- Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.Prenatal diagnosis · 2013Article
- Outcome of fetuses with diagnosis of isolated short femur in the second half of pregnancy.ISRN obstetrics and gynecology · 2012Article
- Neonatal skeletal dysplasias.Pediatric radiology · 2012Review
- Low-dose fetal CT for evaluation of severe congenital skeletal anomalies: preliminary experience.Pediatric radiology · 2012Article
- The skeleton and musculature on foetal MRI.Insights into imaging · 2011Article
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7 authors at 2 institutions in 2 countries.
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Abstract
The osteochondrodysplasias or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal period, making them amenable to ultrasound prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred to the International Skeletal Dysplasia Registry (ISDR) to determine the relative frequency of specific osteochondrodysplasias and correlation of ultrasound versus radiographic diagnoses for these disorders. Within the retrospective cohort of 1,500 cases, 85% of the referred cases represented well-defined skeletal dysplasias, and the other 15% of cases were a mixture of genetic syndromes and probable early-onset intrauterine growth restriction. The three most common prenatal-onset skeletal dysplasias were osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2, accounting for almost 40% of the cases. In a prospective analysis of 500 cases using a standardized ultrasound approach to the evaluation of these disorders, the relative frequencies of osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2 were similar to the retrospective analysis. This study details the relative frequencies of specific prenatal-onset osteochondrodysplasias, their heterogeneity of prenatal-onset skeletal disorders and provides a standardized prenatal ultrasound approach to these disorders which should aid in the prenatal diagnosis of fetuses suspected of manifesting skeletal dysplasias.
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