Barakat syndrome diagnosed decades after initial presentation.
Spennato U, Siegwart J, Hartmann B, Fischer EJ, Bracco C, Capraro J, Mueller B, Schuetz P, Jehle AW, Struja T.
Spennato U, et al.
Endocrinol Diabetes Metab Case Rep. 2023 Dec 20;2023(4):23-0018. doi: 10.1530/EDM-23-0018. Print 2023 Oct 1.
Endocrinol Diabetes Metab Case Rep. 2023.
PMID: 38116790
Free PMC article.
SUMMARY: Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). ...Her medical history included osteoporosis with hip/spine fractures, nephrolithiasis and a family histor …
SUMMARY: Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural de …