ReviewPediatric radiology2017
Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.
Review in Pediatric radiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.Frontiers in genetics · 2025Pooled it
- Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports.Prenatal diagnosis · 2026Review
- Article
- Antenatal ultrasound cannot detect all congenital Anomalies: Clinical limitations, India-specific barriers, and medicolegal perspectives.Journal of hand and microsurgery · 2025Review
- Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study.Acta obstetricia et gynecologica Scandinavica · 2025Article
- Article
- 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
- Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.Scientific reports · 2024Article
- AAJP reports · 2024Article
- Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia.Pediatric radiology · 2024Article
- Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.International medical case reports journal · 2024Article
- Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports.Annals of medicine and surgery (2012) · 2023Article
- Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.World journal of clinical cases · 2023Review
- Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.Prenatal diagnosis · 2022Article
- Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients.BMC pediatrics · 2022Article
- Article
- Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.Molecular genetics & genomic medicine · 2021Article
- Current Overview of Osteogenesis Imperfecta.Medicina (Kaunas, Lithuania) · 2021Review
- Whole Exome Sequencing with Comprehensive Gene Set Analysis Identified a Biparental-Origin Homozygous c.509G>A Mutation inDiagnostics (Basel, Switzerland) · 2020Article
- Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several sonographic parameters. Degree of femoral shortening, lung volumes, femur length to abdominal circumference ratio, and chest circumference to abdominal circumference ratio are the most sensitive and specific predictors. Although there are more than 450 different skeletal dysplasias, only a few are lethal in the perinatal period. We review current fetal US literature and present an updated algorithmic approach to first establish lethality and, second, evaluate for hallmark sonographic features to help determine a specific diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.