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Journal Information

Online ISSN
1305-3124

Established
1993

Editors-in-Chief
​Cihat Şen, ​Nicola Volpe

Editors
Daniel Rolnik, Mar Gil, Murat Yayla, Oluş Api

Statistics Editor
Resul Arısoy

Congenital cataract as an only sign in Down Syndome: case report

Alev Atis, Burak Ozkose, Basak Kaya, Alper Gezdirici

Article info

Congenital cataract as an only sign in Down Syndome: case report. Perinatal Journal 2014;22(3):SE26 DOI: 10.2399/prn.14.S001084

Author(s) Information

Alev Atis1,
Burak Ozkose1,
Basak Kaya1,
Alper Gezdirici2

  1. Kanuni Sultan Suleyman Eğitim ve Araştırma Hastanesi, Kadın-Doğum Kliniği- İstanbul TR
  2. Kanuni Sultan Suleyman Eğitim ve Araştırma Hastanesi, Genetik Bölümü- İstanbul TR
Correspondence

Burak Ozkose, Kanuni Sultan Suleyman Eğitim ve Araştırma Hastanesi, Kadın-Doğum Kliniği- İstanbul TR,

Publication History
Conflicts of Interest

No conflicts declared.

Case 
42 year old pregnant woman has been sent to perinatology policlinic for double test. Her first trimester combined test result was 1/1240. She was appointed for second trimester detailed sonography for advanced maternal age.Bilateral opacities in orbital examination were seen on sonography. She was given genetic consultation for this but she opted to continue her pregnancy without karyotyping. Planned c/s section was done for previous c/s endication at 39th week. A female 3450 gr fetüs was born with an Apgar score 8-9. Her face was characteristic with upward slanting of the palpebral fissures, congenital cataract and macroglosi. Postnatal karyotype was concordant with Down syndome.
Conclusion
In high risk groups orbital examination should be included in prenatal sonography.
Keywords

Down syndome, eye, cataract