Abstract
Brachydactyly short-stature hypertension syndrome, also known as hypertension-with-brachydactyly (HTNB) syndrome, is a rare autosomal dominant disorder that was first described by Bilginturan and colleagues in 1973. Many familial cases of HTNB have been reported, but the first sporadic case of this condition was published only recently. This article describes a case of HTNB syndrome in a 16-year-old boy. Although Doppler ultrasonography of the kidneys and renal arteries showed normal findings, magnetic resonance angiography showed an aberrant right posterior inferior cerebellar artery, early bifurcation of the left renal artery, and irregularity and stenosis of the inferior dominant branch of this artery. The patient’s father was in chronic renal failure of which the primary pathology was unknown. We speculate that the described case is the second documented sporadic case of HTNB syndrome. This disorder should be included in the differential diagnosis of patients with short stature and hypertension of unknown aetiology. Such individuals should be carefully examined for brachydactyly and for cerebral–cerebellar and renal vascular malformations.
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This study was presented as a poster at the European Human Genetics Conference in Munich, Germany, on 12–15 June 2004
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Derbent, M., Baskın, E., Ağıldere, M. et al. Brachydactyly short-stature hypertension syndrome: a case with associated vascular malformations. Pediatr Nephrol 21, 390–393 (2006). https://doi.org/10.1007/s00467-005-2111-6
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DOI: https://doi.org/10.1007/s00467-005-2111-6