Document Detail

Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia.
MedLine Citation:
PMID:  8291529     Owner:  NLM     Status:  MEDLINE    
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.
M T Greally; T Jewett; W L Smith; G D Penick; R A Williamson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  47     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1994-02-24     Completed Date:  1994-02-24     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:  1086-91     Citation Subset:  IM    
Department of Pediatrics/Division of Genetics, University of Iowa Hospitals and Clinics, Iowa City.
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MeSH Terms
Bone Diseases, Developmental / genetics*,  pathology,  ultrasonography
Genes, Dominant
Genes, Lethal
Infant, Newborn
Puberty, Precocious / genetics
Ultrasonography, Prenatal

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