点状软骨发育不良伴多发先天性异常：一种新综合征？

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

作者信息

Mortier G R, Messiaen L M, Espeel M, Smets K J, Vanzieleghem B D, Roels F, De Paepe A M

机构信息

Department of Medical Genetics, University Hospital of Ghent, De Pintelaan 185, B-9000 Ghent, Belgium.

出版信息

Pediatr Radiol. 1998 Oct;28(10):790-3. doi: 10.1007/s002470050466.

DOI:10.1007/s002470050466

PMID:9799302

Abstract

We report a male neonate with craniofacial dysmorphic features, multiple congenital anomalies and an unusual form of chondrodysplasia punctata. Radiographic examination revealed punctate epiphyses and coronal clefting of the thoracic spine. The hand radiographs showed some similarities to the brachytelephalangic type of chondrodysplasia punctata. However, the disorder did not fit well with any known entity of chondrodysplasia punctata or other condition characterized by punctate epiphyses.

摘要

我们报告了一名患有颅面畸形特征、多种先天性异常及一种不寻常形式点状软骨发育不良的男性新生儿。影像学检查显示骨骺点状钙化及胸椎冠状裂。手部X线片显示与短指型点状软骨发育不良有一些相似之处。然而，该病症与任何已知的点状软骨发育不良实体或其他以骨骺点状钙化为特征的病症均不太相符。