title: Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III.
abstract: OBJECTIVE
  this paper reports an association between an increased Nuchal Translucency (NT) and Osteogenesis Imperfecta (OI), a type of skeletal dysplasia. Measurement of fetal NT at 10-14 weeks of gestation is a sensitive and effective screening method for chromosomal abnormalities.
  
  
  METHODS
  a 35-year- old Caucasian woman in her fourth pregnancy was referred to our clinic for an ultrasound scan at 12 weeks of gestation, that confirmed increased Nuchal Translucency. Chorionic villi sampling was performed, showing a normal karyotype. The patient was evaluated by a team of experienced ultra sonographers for pregnancy follow-up at our Department, that is a tertiary center.
  
  
  RESULTS
  in our case the ultrasound scan at 12 week of gestation revealed only an increased NT (3 mm). Cytogenetic analysis on chorionic villi demonstrated a normal male karyotype. US follow-up, performed every 3-4 weeks, confirmed normal anthropometric parameters except for shortening of both femurs, but at 23 weeks an incorrect attitude of the feet was revealed. A clinical and radiographic diagnosis of OI type III was made only at birth, and through follow-up continuing to date.
  
  
  CONCLUSIONS
  NT screening was successful for chromosomal abnormalities at 11-14 weeks of gestation. An increased NT thickness is also associated with numerous fetal anomalies and genetic syndromes in a chromosomally normal fetus. In our case there were no sonographic signs of imperfect osteogenesis in the first trimester, although there was an increased NT with a normal karyotype.
  
  
  CONCLUSIONS
  currently, in literature, there are not other cases of OI type III associated with an increased NT. Our report is the first to suggest an association between an increased nuchal translucency, short femur length and osteogenesis imperfecta type III.
authors.affiliation: Department of Gynaecology, Obstetric and Neonatology, University of Bari "Aldo Moro", Policlinico of Bari, Bari, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Vimercati
authors.forename: Mariantonietta
authors.initials: M
authors.lastname: Panzarino
authors.forename: Ilaria
authors.initials: I
authors.lastname: Totaro
authors.forename: Annarosa
authors.initials: A
authors.lastname: Chincoli
authors.forename: Luigi
authors.initials: L
authors.lastname: Selvaggi
keywords: nuchal translucency; osteogenesis imperfecta; skeletal dysplasia; ultrasound scan