Document Detail

Chondrodysplasia punctata: another possible X-linked recessive case.
MedLine Citation:
PMID:  1481849     Owner:  NLM     Status:  MEDLINE    
A 22-week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of chondrodysplasia punctata (CP), and metacarpal shortness and tiny pyramidal phalanges. The several causally different forms of CP are tabulated. Differential diagnosis suggests that the present case, which does not have limb shortness, could be a case of X-linked recessive brachytelephalangic chondrodysplasia punctata.
C P Bennett; A C Berry; D J Maxwell; M J Seller
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  44     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1992 Dec 
Date Detail:
Created Date:  1993-02-08     Completed Date:  1993-02-08     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:  795-9     Citation Subset:  IM    
Division of Medical and Molecular Genetics, Guy's Hospital, London, UK.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chondrodysplasia Punctata / etiology,  genetics*
Face / abnormalities
Fetal Death / genetics*
Fingers / abnormalities
Genes, Recessive
Infant, Newborn
Penis / abnormalities
X Chromosome*

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