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. 2019 Aug;39(9):701-719.
doi: 10.1002/pd.5501. Epub 2019 Jul 14.

A sonographic approach to the prenatal diagnosis of skeletal dysplasias

Eva Pajkrt  1 , Lyn S Chitty  2
Affiliations

A sonographic approach to the prenatal diagnosis of skeletal dysplasias

Eva Pajkrt et al. Prenat Diagn. 2019 Aug.

Abstract

Skeletal dysplasias are a heterogeneous group of conditions, many of which present unexpectedly in the prenatal period with a variety of ultrasound findings. Accurate prenatal diagnosis can now be facilitated using exome sequencing approaches, but in order to interpret results, accurate and detailed phenotyping is required. Here, we describe the sonographic approach to the prenatal diagnosis of skeletal abnormalities and illustrate how taking a systematic approach can facilitate diagnosis.

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References

REFERENCES

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