[Pterygium of the elbow and post-axial polydactyly on the hands as sign of hereditary onyco-osteodysplasia: 4 familial cases].
Four familial cases of HOOD syndrome are reported. A female newborn showed at birth dysplastic thumb-nails, small nails with triangular lunulae, post-axial polydactylyl at left hand, and hypoplasia of the patella. The mother and the mother's brother showed onycodysplasia, hypoplastic dislocated patella, joint contractures, iliac horns, bilateral post-axial polydactyly on the hand and antecubital pterygium. The patient's sister, born to another man, showed onico-osteo dysplasia without pterygium and polydactyly. The variable expressivity of the HODD syndrome and its association with polydactyly, pterygium and nephropathy are discussed.
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Centro di genetica umana, Ospedali Galliera di Genova.
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Zucchinetti
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Pozzolo
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D000328:Adult; D003286:Contracture / Q000235:genetics; D004550:Elbow / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D009261:Nail-Patella Syndrome / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
Pterigio dei gomiti e polidattilia post-assiale alle mani come segni di onico-osteo displasia ereditaria: quattro casi famigliari.