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

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

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

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

5. , increased fetal nuchal translucency

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

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

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

13. Thank you

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