Document Detail


Craniofrontonasal dysostosis with deafness and axillary pterygia.
MedLine Citation:
PMID:  2688423     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Craniofrontonasal dysostosis (CFND) is an inherited disorder previously referred to as craniofrontonasal dysplasia. However, there is no evidence of tissue dysplasia and, therefore, the term dysostosis has been substituted. The disorder is characterized by frontonasal dysostosis, coronal craniostenosis, and the variable presence of other skeletal defects, including short webbed neck, sloping shoulders, polydactyly, syndactyly, and broad first toes. Here we report an affected mother and daughter who also have limited hip abduction. In addition, the mother had an axillary pterygia, congenital footplate fixation of the left ear, and right sensorineural hearing loss; these manifestations have not been reported previously in CFND and expand the phenotype of this syndrome. Both patients had marked restriction of shoulder abduction, and the mother had limited forearm pronation; these manifestations have been reported in only one other patient with CFND. Awareness of the possibility of these abnormalities may allow for early intervention by physical therapy and hearing aides in infants and young children with these manifestations as a component of CFND.
Authors:
V V Michels; D P Derleth; A D Hoffman; A S Goldston
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  34     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1989 Nov 
Date Detail:
Created Date:  1990-01-12     Completed Date:  1990-01-12     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  445-50     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Craniofacial Dysostosis / genetics*
Female
Genes, Dominant
Hearing Loss, Sensorineural / genetics*
Humans
Infant, Newborn
Mental Retardation / genetics*
Pelvic Bones / abnormalities
Shoulder / abnormalities
Syndrome

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


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