[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.
Centro di genetica umana, Ospedali Galliera di Genova.
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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.