A case of Beals Syndrome in a Filipino child
https://doi.org/10.47895/amp.v51i3.574
- Author:
Ma-Am Joy R. Tumulak
1
;
Mary Ann R. Abacan
1
,
2
;
Carmencita D. Padilla
1
,
2
Author Information
1. Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
2. Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
- Publication Type:Case Reports
- Keywords:
Congenital contractual arachnodactyly;
Camptodactyly;
FBN2 gene
- MeSH:
Beals syndrome;
Marfan Syndrome
- From:
Acta Medica Philippina
2017;51(3):263-265
- CountryPhilippines
- Language:English
-
Abstract:
We report a case of a 12-year-old Filipino female with crumpled ears, arachnodactyly, camptodactyly, and congenital joint contractures, consistent with Beals syndrome. Marfan syndrome is a common differential diagnosis, since both are caused by mutations in two homologous genes, namely FBN1 and FBN2. Both syndromes share similar characteristics hence, it is essential to differentiate the two, since Marfan syndrome may develop fatal complications, not encountered in Beals Syndrome. Management of Beals syndrome is mainly supportive including physiotherapy and ophthalmologic and cardiovascular evaluation.
- Full text:574-Article Text-2212-1-10-20191126.pdf
