| Craniofrontonasal dysostosis with deafness and axillary pterygia. | |
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MedLine Citation:
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PMID: 2688423 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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V V Michels; D P Derleth; A D Hoffman; A S Goldston |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 34 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1989 Nov |
Date Detail:
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Created Date: 1990-01-12 Completed Date: 1990-01-12 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 445-50 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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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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