| Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. | |
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MedLine Citation:
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PMID: 3275766 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Achondrogenesis has traditionally been divided into type I (Parenti-Fraccaro) and type II (Langer-Saldino). We studied the clinical, radiologic, and morphologic features of 17 cases previously diagnosed as achondrogenesis type I to define whether there is even further heterogeneity. On radiographic analysis, two distinct groups of patients were defined based on the presence or absence of rib fractures and ossification of the vertebral pedicles, ischium, and fibula. Two distinct chondroosseous morphologic patterns were observed that directly correlated with the radiographic grouping. One group had round vacuolated chondrocytes with inclusion bodies; the other had collagenous rings around the chondrocytes. We conclude that achondrogenesis type I (Parenti-Fraccaro) consists of two distinct disorders: type IA, which corresponds to the cases originally published by Houston et al. and Harris et al., and type IB, which corresponds to the case originally published by Fraccaro. Analysis of Parenti's case suggests the diagnosis of achondrogenesis type II. All three types of achondrogenesis appear to be inherited as autosomal recessive traits. |
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Authors:
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Z Borochowitz; R Lachman; G E Adomian; G Spear; K Jones; D L Rimoin |
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Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S.; Review |
Journal Detail:
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Title: The Journal of pediatrics Volume: 112 ISSN: 0022-3476 ISO Abbreviation: J. Pediatr. Publication Date: 1988 Jan |
Date Detail:
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Created Date: 1988-02-23 Completed Date: 1988-02-23 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 23-31 Citation Subset: AIM; IM |
Affiliation:
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Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Enchondromatosis
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classification*,
genetics,
pathology,
radiography Female Humans Infant, Newborn Male Osteochondrodysplasias / classification* Phenotype |
| Grant Support | |
ID/Acronym/Agency:
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HD 22657-01/HD/NICHD NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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