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Pubmed for Handhelds

PUBMED FOR HANDHELDS

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  • Title: Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?
    Author: Mortier GR, Messiaen LM, Espeel M, Smets KJ, Vanzieleghem BD, Roels F, De Paepe AM.
    Journal: Pediatr Radiol; 1998 Oct; 28(10):790-3. PubMed ID: 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.
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