Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two siblings (a 24-year-old woman and a 14-year-old girl) with congenital woolly hair, epidermolytic palmoplantar keratoderma, and mitral valve regurgitation are described. An interesting additional feature in one of the patients (the 14-year-old girl) was posterior subcapsular cataract. The association of woolly hair and mitral valve regurgitation has not been reported previously. The occurrence of cataract in one of our patients is also a new ophthalmologic finding in this hair shaft anomaly.
 ...
PMID:A new cardiac manifestation associated with woolly hair: report of two cases of woolly hair, palmoplantar keratoderma, and mitral valve regurgitation. 1782