Document Detail

Chondrodysplasia punctata, humero-metacarpal type: a second case.
MedLine Citation:
PMID:  8862628     Owner:  NLM     Status:  MEDLINE    
We report on a boy with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Radiographs documented short and wide humeri, symmetrical brachymetacarpy, coronal clefts of the veretebrae, and punctate calcifications in the spine, sacrum, shoulder, feet, and trachea. Borochowitz [1991] described a similar patient with an apparently new syndrome of chondrodysplasia punctata (CP), distinct from previously described forms. He suggested the term "chondrodysplasia punctata, humero-metacarpal (HM)" type. We present our patient as a second case of this form of CP.
J S Fryburg; T E Kelly
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  64     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Aug 
Date Detail:
Created Date:  1996-12-27     Completed Date:  1996-12-27     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  493-6     Citation Subset:  IM    
Department of Pediatrics, University of Virginia Health Science Center, Charlottesville 22908, USA.
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MeSH Terms
Chondrodysplasia Punctata, Rhizomelic* / radiography
Humerus / radiography
Infant, Newborn

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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