A case of four subsequently Escobar syndrome

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Presentation transcript:

A case of four subsequently Escobar syndrome Dr S.Ozge Korkmaz Istanbul University Cerrahpasa Medical Faculty Department of Perinatology

Escobar or multiple pterygia syndrome(MPS) autosomal recessive form of arthrogryposis multiplex

excessive webbing (pterygia) of the elbows or knees congenital contractures (arthrogryposis) short stature, craniofacial abnormalities, clubfoot, kyphoscoliosis, cardiac abnormalities and intrauterine growth restriction (IUGR)

A 29-year-old G7P3L2A3 women 15 weeks gestation spontaneous abortion neonatal exitus two subsequently medical abortions

, increased fetal nuchal translucency

CHRNG (cholinergic receptor nicotinic gamma subunit gene) Amniocentesis CHRNG (cholinergic receptor nicotinic gamma subunit gene)

CHRNA1, CHRND, CHRNG (cholinergic receptor nicotinic gamma subunit gene), CNTN1, DOK7 and SYNE1

Genetic counceling was made and PGD (preimplantation genetic diagnosis ) was offered for future pregnancies.

Thank you

A case of four subsequently Escobar syndrome Dr S.Ozge Korkmaz Istanbul University Cerrahpasa Medical Faculty Department of Perinatology