Freeman-Sheldon syndrome with cerebral venous thrombosis: Is it a coincidence?

Freeman Sheldon syndrome (FSS), a rare congenital syndrome with defined morphological features may be missed in view of its rarity and non identification of dysmorphic features [1] Its severity varies based on the degree of arthrogryposis, associated respiratory and swallowing difficulties, hearing...

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Published in:Journal of postgraduate medicine (Bombay) 2010-01, Vol.56 (1), p.37-39
Main Authors: Al-Sajee, D. M, Habbal, O. A, Reyes, Z. S
Format: Article
Language:English
Subjects:
Arthrogryposis
Case studies
Development and progression
Diagnosis
Venous thrombosis
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Habbal, O. A
Reyes, Z. S
description Freeman Sheldon syndrome (FSS), a rare congenital syndrome with defined morphological features may be missed in view of its rarity and non identification of dysmorphic features [1] Its severity varies based on the degree of arthrogryposis, associated respiratory and swallowing difficulties, hearing loss and brain anomalies [2] We describe a hitherto un-documented feature that might represent a severe form of FSS or it is just a chance observation of these two rare conditions. Serial serum electrolytes, bone profile, metabolic screen (TANDEM, serum lactate and ammonia, urine ketone, blood gases, very long chain fatty acid) as well as chromosomal studies and fundoscopic examination were normal.
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subjects Arthrogryposis
Case studies
Development and progression
Diagnosis
Venous thrombosis
title Freeman-Sheldon syndrome with cerebral venous thrombosis: Is it a coincidence?
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