PMID: 8599003Jan 1, 1996Paper

Antenatal diagnosis of short-limb dwarfism: sonographic approach

Pediatric Radiology
E F AvniE Cohen

Abstract

Based on the findings in 12 patients with skeletal dysplasia diagnosed antenatally, the authors propose a tailored approach to the evaluation of foetuses with shortened long bones, depending on the time of discovery, the degree of shortening and the associated findings. During the second trimester, a very short femur [2 standard deviations (SD) - 5 mm and less] most probably corresponds to a bone dysplasia, although the differential diagnosis is mainly early intra-uterine growth retardation, and the foetal skeleton should be surveyed completely in order to find supplementary features suggestive of dwarfism. Anomalies of long bones in their shape, thickness or contour, or spinal ossification disorders or undermineralisation (best evaluated at the level of calvarial bones) are most helpful in determining the type of dysplasia. A short femur (between 2 SD and 2 SD - 4 mm) may indicate growth retardation, a chromosomal anomaly or dwarfism. Follow-up examinations are mandatory in order to differentiate between them. During the third trimester a very short femur may indicate a bone dysplasia and the work-up should be the same as in the second trimester. A short femur may correspond to dwarfism of late development, a growth-retarded f...Continue Reading

References

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Citations

Mar 10, 2006·Pediatric Radiology·Rita L Teele
Feb 20, 2002·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·N KölbleJ Wisser
Feb 27, 2003·Journal of Pediatric Orthopedics·Liam KevernN M P Clarke

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