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Hereditary deficiency of vitamin K-dependent coagulation factors with skeletal abnormalities

✍ Scribed by Boneh, Avihu; Bar-Ziv, Jacob

Book ID: 101214724
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 343 KB
Volume: 65
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961028)65:3<241::aid-ajmg13>3.0.co;2-o

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✦ Synopsis

W e describe a female infant who presented with severe intracranial bleeding and was found to have a hereditary deficiency of vitamin K-dependent coagulation factors. She also had mild stippling of the left femoral epiphysis and shortness of the distal phalanges of the fingers. W e studied the possible relationship between these abnormalities and a peroxisomal defect and followed their responses to treatment with vitamin K. The level of vitamin K-dependent clotting factors returned to near-normal following treatment with pharmacological doses of vitamin K, but there was no effect on the skeletal abnormalities.

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