In:
Journal of Pediatric Genetics, Georg Thieme Verlag KG, Vol. 10, No. 02 ( 2021-06), p. 126-130
Abstract:
Bardet–Biedl syndrome (BBS) is a rare ciliopathy affecting multiple organ systems. Patients with BBS are usually diagnosed later in childhood when clinical features of the disease become apparent. In this article, we presented a case of BBS discovered by whole genome sequencing in a newborn with heterotaxy, duodenal atresia, and complex congenital heart disease. Early diagnosis is important not only for prognostication but also to explore ways to mitigate the cone–rod dysfunction and for exploring newer therapies. Our case highlights the importance of a high index of suspicion and the utility of advanced genetic testing to provide an early diagnosis for a rare disease.
Type of Medium:
Online Resource
ISSN:
2146-4596
,
2146-460X
DOI:
10.1055/s-0040-1708844
Language:
English
Publisher:
Georg Thieme Verlag KG
Publication Date:
2021
detail.hit.zdb_id:
2660767-0
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