Document Detail

Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs.
MedLine Citation:
PMID:  14679588     Owner:  NLM     Status:  MEDLINE    
Three unrelated patients affected by a characteristic metaphyseal chondrodysplasia with cup-shaped metaphyses of the knees are described. Lower femoral and upper tibial cone-shaped epiphyses were embedded in the metaphyses. Main clinical features are short stature, shortening of the lower limbs, limitation of knee extension, and normal hands length. Radiographs of skull, spine, and hands showed no abnormality. This particular appearance of the knees has been seldom described in acquired disease such as repeated injuries, meningococcemia, scurvy, and hypervitaminosis A. Metaphyseal dysplasias with these distinctive radiological findings of the knees are uncommon. Differential diagnosis includes trichoscyphodysplasia and acroscyphodysplasia among others. Two other cases reported by Kozlowski showed the most similarities to our three cases and defined a new form of metaphyseal dysplasia with specific lower limbs involvement and cup-shaped metaphyses.
Anne Dieux-Coëslier; Alexandre Moerman; Muriel Holder; Odile Boute; Pierre Maroteaux; Sylvie Manouvrier; Martine Le Merrer
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  124A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2003-12-17     Completed Date:  2004-07-13     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  60-6     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Service of Genetics, Hôpital Jeanne de Flandre, CHRU 59037 de Lille, France.
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MeSH Terms
Body Height
Child, Preschool
Diagnosis, Differential
Growth Plate / abnormalities*
Hand / anatomy & histology
Knee Joint / abnormalities*,  radiography*
Leg / abnormalities*
Osteochondrodysplasias / complications,  diagnosis*,  pathology*

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