Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl

R.Ricci; L.Aulisa; D.AntuzziF.SerraG.SegniK.Kozlowski

首页> 外文期刊>pediatric radiology >Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl

【24h】

Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl

机译：

获取原文

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

A case of spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL) in an Italian girl is reported. This condition is mainly observed in the Afrikaans population of South Africa with an ancestral founder believed to be localized in West Germany. This case might support a link with the European origin of SEMDJL.

著录项

来源
《pediatric radiology》 |1995年第4期|303-305|共页
作者
R.Ricci; L.Aulisa; D.AntuzziF.SerraG.SegniK.Kozlowski;
展开▼
作者单位

Catholic University;

Children's Hospital;

展开▼
收录信息
原文格式 PDF
正文语种英语
中图分类
关键词

相似文献

外文文献
中文文献

1. Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue? [J] . PDaish, M JHardman, M ALamont journal of medical genetics . 1989,第1期

机译：Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis: a new inherited disorder of connective tissue?
2. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation [J] . Tuysuz Beyhan, Yilmaz Saliha, Erener-Ercan TugbaBilguvar KayaGunel Murat Pediatric radiology . 2015,第5期

机译：Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation
3. Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia [J] . Zannolli R, Inchingolo G, Serracca LMiracco Cde Santi MMMalandrini ABiagioli MPerotti RBaldi CNutti DPolito EGonnelli S american journal of medical genetics . 2002,第1期

机译：Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia

Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl

摘要

著录项

相似文献

相关主题

期刊订阅