Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis

Am J Med Genet A. 2011 Jul;155A(7):1756-8. doi: 10.1002/ajmg.a.34052. Epub 2011 Jun 10.

Authors

Antonella Giancotti¹, Marco Castori, Antonella Spagnuolo, Francesco Binni, Valentina D'Ambrosio, Gaia Pasquali, Antonio Pizzuti, Paola Grammatico

Affiliation

¹ Department of Obstetrics and Gynecology, Sapienza University, Policlinico Umberto I Hospital, Rome, Italy.

PMID: 21671381
DOI: 10.1002/ajmg.a.34052

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Base Sequence
Female
Heterozygote
Humans
Karyotyping
Mutation / genetics
Pregnancy
Pregnancy Trimester, First*
Prenatal Diagnosis*
Receptor, Fibroblast Growth Factor, Type 3 / genetics
Thanatophoric Dysplasia / diagnostic imaging*
Thanatophoric Dysplasia / genetics*
Ultrasonography

Substances

Receptor, Fibroblast Growth Factor, Type 3