A Unique Clinical Presentation of Congenital Thumb Aplasia, Radioulnar Synostosis, and Chiari Malformation: A Potential Pediatric Syndromic Association.
| Autor: | Faust TF; Department of Research, Alabama College of Osteopathic Medicine, Dothan, USA., Carlyle J; Department of Research, Edward Via College of Osteopathic Medicine, Auburn, USA., Reitzel J; Department of Research, Alabama College of Osteopathic Medicine, Dothan, USA., Khan A; Department of Research, Alabama College of Osteopathic Medicine, Dothan, USA., Williams G; Department of Pediatrics, Decatur Morgan Hospital, Decatur, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 Aug 06; Vol. 16 (8), pp. e66274. Date of Electronic Publication: 2024 Aug 06 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.66274 |
| Abstrakt: | The medical literature does not currently report a case of co-occurring congenital thumb aplasia, radioulnar synostosis (RUS), and Chiari malformation with scoliosis. Furthermore, there is an overlap of clinical features with other documented syndromes and associations that have potential cardiac, gastrointestinal, hematologic, and nephrological implications, thus contributing to increased morbidity and mortality if left undetected. We describe an interesting case of congenital thumb aplasia, RUS, and Chiari malformation with scoliosis in the absence of non-musculoskeletal abnormalities. These findings prompted further investigation to determine whether this is a unique presentation of a previously described syndrome, due to teratogenic exposure in utero, or a syndromic association yet to be adequately identified by the scientific community. We also identified several candidate genes that may guide genetic testing in the future. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Faust et al.) |
| Databáze: | MEDLINE |
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