Article
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.
Prenatal diagnosis - 1 Dec 2006
Colombani Marina, Laurent Nicole, Le Merrer Martine, Delezoide Anne-Lise, Thauvin-Robinet Christel, Huet Frédéric, Sagot Paul, Couvreur Stéphanie, Rousseau Thierry, Robertson Stephen P, Faivre Laurence
Abstract excerpt
BACKGROUND: We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester. METHODS AND RESULTS: Cytogenetic studies performed on amniocytes revealed a normal female karyotype. Autopsy after termination of pregnancy showed facial dysmorphism, cleft palate, bowed, shortened limbs,...
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