Suppr超能文献

[肘部翼状胬肉和手部轴后多指畸形作为遗传性甲-骨发育异常的体征:4例家族病例]

[Pterygium of the elbow and post-axial polydactyly on the hands as sign of hereditary onyco-osteodysplasia: 4 familial cases].

作者信息

Camera G, Piccinini A, Zucchinetti P, Pozzolo S

机构信息

Centro di genetica umana, Ospedali Galliera di Genova.

出版信息

Pathologica. 1991 May-Jun;83(1085):365-72.

PMID:1923637
Abstract

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.

摘要

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。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验