CORNELIA DE LANGE SYNDROME(CdLS) WITH TB ABDOMEN :A RARE CASE REPORT
| Main Author: | Dr. Manaswineesahoo, Dr. Sunil Kumar Agarwalla, Dr. Subhranshu Sekhar Dhal & Dr. Debasispatro |
|---|---|
| Format: | Article Journal |
| Terbitan: |
, 2017
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| Subjects: | |
| Online Access: |
https://zenodo.org/record/1066712 |
Daftar Isi:
- Cornelia de Lange syndrome(CdLS) also known as Brachmann de Lange syndrome is a very rare genetic disorder characterized by growth delays; distinctive facial features; malformations of the hands, feet, arms, and/or legs (limb anomalies); other physical abnormalities; intellectual disability; and/or developmental delay . Gastroesophageal reflux disease (GERD)is present in almost all patients.CdLS is genetically heterogeneous and usually sporadic occuring approximately one per 10,000 births.CdLS is caused by gene mutations affecting proteins involved in sister chromatid cohesion.Here we document a case of CdLS who presented to us with TB abdomen