| Autosomal recessive omodysplasia: report of three additional cases. | |
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MedLine Citation:
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PMID: 9716634 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in 1991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct and readily diagnosable autosomal recessive bone dysplasia with marked limb shortening and facial abnormalities. These cases bring the total reported to 17. Names used in earlier publications include rhizomelic bone dysplasia with club-like femora, familial generalised micromelia with dislocated radius and congenital micromelic dysplasia (Borochowitz type). |
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Authors:
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J P Masel; K Kozlowski; P Kiss |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric radiology Volume: 28 ISSN: 0301-0449 ISO Abbreviation: Pediatr Radiol Publication Date: 1998 Aug |
Date Detail:
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Created Date: 1998-11-30 Completed Date: 1998-11-30 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0365332 Medline TA: Pediatr Radiol Country: GERMANY |
Other Details:
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Languages: eng Pagination: 608-11 Citation Subset: IM |
Affiliation:
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Radiology Department, Royal Children's Hospital, Brisbane Queensland 4029, Australia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
radiography Consanguinity Craniosynostoses / genetics, radiography Facies Female Genes, Recessive* Humans Infant Infant, Newborn Limb Deformities, Congenital / genetics, radiography Male Osteochondrodysplasias / genetics*, radiography |
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