Short-rib-polydactyly syndrome presenting with increased nuchal translucency in a high-risk family
G Daskalakis1, A P Souka, I Kavalakis
11st Department of Obstetrics and Gynaecology, Alexandra Maternity Hospital, University of Athens, Athens, Greece.
Fetal Diagnosis and Therapy
|August 17, 2006
Abstract:
Short-rib-polydactyly syndrome represents a group of rare, autosomal recessive, lethal skeletal dysplasias characterized by hypoplastic thorax, short ribs, short limbs, polydactyly, and visceral abnormalities. We describe an affected fetus from a high-risk family presenting with increased nuchal translucency at 13 weeks of pregnancy. The diagnosis was established in the 2nd trimester.
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