✨
AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
We discuss whether these are coincidental or overlapping findings or whether this is a possible new clinical entity.
📌 3 Key Takeaways
🎯
Objective & Hypothesis:We report a case with broad, deviated thumb and big, duplicated, deviated toes resembling Rubinstein-Taybi syndrome.
📊
Key Findings & Data:But the patient did not have severe mental retardation as in Rubinstein-Taybi syndrome and had no microdeletions on chromosome 16 by FISH-based assay.
💡
Conclusion & Impact:We discuss whether these are coincidental or overlapping findings or whether this is a possible new clinical entity.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
We report a case with broad, deviated thumb and big, duplicated, deviated toes resembling Rubinstein-Taybi syndrome. But the patient did not have severe mental retardation as in Rubinstein-Taybi syndrome and had no microdeletions on chromosome 16 by FISH-based assay. This patient had mild webbing as seen in multiple pterygium syndrome, but broad-deviated thumb has not been reported in this syndrome. We discuss whether these are coincidental or overlapping findings or whether this is a possible new clinical entity.
🔖
Cite This Article
KARGI, A. E., KARGI, Ş., ERDOĞAN, B., BALCI, S., AKÖZ, T. (2022). A case with some clinical findings overlapping to Rubinstein-Taybi, Rubinstein-Taybi-like syndrome or multiple pterygium syndrome: Coincidental findings or a new entity. Turkish Journal of Pediatrics, Cilt: 43 - Sayı: 2, 166–171. https://ajindex.com/articles/613292