| Autor: |
Mallesh Kariyappa, Varun Govindarajan, H. Anil Kumar, Pavan Kumar Karigoudar, Meghana Jagadish, Sahana Devadas |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Asian Journal of Pediatric Research. :24-29 |
| ISSN: |
2582-2950 |
| DOI: |
10.9734/ajpr/2022/v9i130257 |
| Popis: |
Background: Cornelia de Lange syndrome is a genetic syndrome characterized by intellectual disability, facial features with synorphrys or fused eyebrows, upper limb anomalies and atypical growth. It is caused by spontaneous mutations in genes responsible for structural or regulatory function of cohesin complex. Report: We present two newborns cases admitted to our NICU with characteristic dysmorphic features of microcephaly, ectrodactyly and thick eyebrows. One baby also had associated congenital heart defect and sensorineural hearing loss. Both babies are under followup with developmental early intervention programs. Parents were offered genetic counselling for future pregnancies. Conclusion: Cornelia de Lange is predominantly a clinical diagnosis by identifying typical dysmorphic features. Labelling a syndromic diagnosis helps to provide genetic counselling to the parents, identify associated co-morbidities at earlier stages and improve the quality of living of such children. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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