Case Report of a Newborn with Cornelia de Lange Syndrome
Author Information
Author(s): Uzun Hakan, Senses Dursun Ali, Uluba Munevver, Kocabay Kenan
Primary Institution: Department of Pediatrics, Duzce University School of Medicine, Duzce, Turkey
Conclusion
The case highlights the importance of early recognition of Cornelia de Lange syndrome for appropriate medical aid and family advice.
Supporting Evidence
- The newborn exhibited distinctive facial features and multiple congenital anomalies characteristic of Cornelia de Lange syndrome.
- Laboratory analyses including echocardiography and chromosomal analysis were performed to assess the condition.
Takeaway
This study talks about a baby born with a rare condition called Cornelia de Lange syndrome, which affects how they look and grow.
Methodology
The case was presented based on clinical examination and laboratory analysis including echocardiography and chromosomal analysis.
Limitations
Genotype-phenotype correlation could not be performed due to unavailability of mutation analyses in Turkey.
Participant Demographics
One-day old female newborn from a non-consanguineous marriage.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website