Camera G, Piccinini A, Zucchinetti P, Pozzolo S
Centro di genetica umana, Ospedali Galliera di Genova.
Pathologica. 1991 May-Jun;83(1085):365-72.
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.
报告了4例HOOD综合征家族病例。一名女性新生儿出生时表现为拇指指甲发育不良、指甲小且半月痕呈三角形、左手轴后多指畸形以及髌骨发育不全。母亲及其兄弟表现为甲发育异常、发育不全性髌骨脱位、关节挛缩、髂角、双手双侧轴后多指畸形以及肘前翼状胬肉。该患者同父异母的妹妹表现为甲骨发育异常,无翼状胬肉和多指畸形。讨论了HOOD综合征的可变表达及其与多指畸形、翼状胬肉和肾病的关联。