| Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia. | |
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MedLine Citation:
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PMID: 8291529 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991) in their report of a patient with apparent manifestations of both AT-I and Boomerang dysplasia. We report on a male fetus of 31 weeks gestation whose clinical, radiologic and histologic findings are compared to reported cases of AT-I, Boomerang dysplasia and the patient of Hunter and Carpenter (Clin Genet 39(6): 471-480, 1991). From the documentation of clinical and radiologic findings we demonstrate overlap of AT-I and Boomerang dysplasia in our patient, and, from histologic examination, suggest a defect of cartilage and bone formation as the basic abnormality in this lethal bone dysplasia. |
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Authors:
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M T Greally; T Jewett; W L Smith; G D Penick; R A Williamson |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 47 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1993 Nov |
Date Detail:
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Created Date: 1994-02-24 Completed Date: 1994-02-24 Revised Date: 2004-11-17 |
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: 1086-91 Citation Subset: IM |
Affiliation:
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Department of Pediatrics/Division of Genetics, University of Iowa Hospitals and Clinics, Iowa City. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Bone Diseases, Developmental
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genetics*,
pathology,
ultrasonography Female Genes, Dominant Genes, Lethal Humans Infant, Newborn Male Pedigree Pregnancy Puberty, Precocious / genetics Ultrasonography, Prenatal |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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