Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0494475 (tonic-clonic seizure)
 1,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Shortening of metacarpals is a useful diagnostic marker in patients with pseudohypoparathyroidism type Ia (PHP-Ia) with Albright's hereditary osteodystrophy (AHO) phenotype or pseudopseudohypoparathyroidism (PPHP). There are very rare reports of metacarpals shortening in idiopathic primary hypoparathyroidism (IPH) cases in the literature. Here we described a young woman with IPH who presented with hypocalcaemia and generalized tonic-clonic seizure. She had shortening of forth and fifth metacarpals which was prominent in her right hand. Based on our finding and other previous case reports we conclude that metarpals shortening is not a specific finding of PHP-Ia or PPHP and it may be found in IPH cases.
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PMID:Short fourth and fifth metacarpals in a case of idiopathic primary hypoparathyroidism. 2408 81