Title
Chondrodysplasia punctata with multiple congenital anomalies : a new syndrome? Chondrodysplasia punctata with multiple congenital anomalies : a new syndrome?
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Berlin ,
Subject
Human medicine
Source (journal)
Pediatric radiology. - Berlin
Volume/pages
28(1998) :10 , p. 790-793
ISSN
0301-0449
ISI
000076745900010
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
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.
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