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Noor Niyar N. Ladhani, David Chitayat, Marjan M. Nezarati, Mittaz Crettol Laureane, Sarah Keating, Rachel J. Silver, Sheila Unger, Lea Velsher, Wilma Sirkin, Ants Toi and Phyllis Glanc Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis Prenatal Diagnosis 33

Version of Record online: 4 AUG 2013 | DOI: 10.1002/pd.4193

What's already known about this topic?

  • The DD-SH is a rare skeletal dysplasia. Most cases in the literature describe the diagnosis in the second or third trimesters or in the immediate postnatal period.

What does this study add?

  • This series describes the first reported cases of DD-SH diagnosed in the first trimester and one of the few molecularly confirmed cases in the literature.

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