| Atelosteogenesis syndromes: a review, with comments on their pathogenesis. | |
| | |
MedLine Citation:
|
PMID: 9133349 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The clinical, radiographic, and morphological findings in 25 cases of atelosteogenesis and boomerang dysplasia have been reviewed. The review confirms the nosologic grouping of atelosteogenesis type I with boomerang dysplasia and the clinical and radiographic overlap of features between atel- osteogenesis I and atelosteogene- sis II (synonymous with De la Chapelle dysplasia) and a group of patients with atelosteogenesis type III. A common pathogenesis is suggested for atelosteogenesis type I and boomerang dysplasia. A marked excess of male fetuses with boomerang dysplasia was observed. Atelosteogenesis type II shows distinctive chondro-osseous histopathology with a major disturbance in cartilage matrix macromolecules. An overlap of phenotypic, radiographic, morphological, and cartilage histochemical features with those observed in diastrophic dysplasia and achondrogenesis type IB suggests that atelosteogenesis type II has common pathogenetic features with disorders of sulfation of connective tissue matrix macro- molecules. |
| | |
Authors:
|
D Sillence; S Worthington; J Dixon; R Osborn; K Kozlowski |
Related Documents
:
|
8357019 - Newly recognized autosomal dominant disorder with craniosynostosis. 2618629 - Colour vision in a family with sorsby's dystrophy. 17486589 - Angulated femurs and the skeletal dysplasias: experience of the international skeletal ... 7352819 - The genetics of fibromuscular dysplasia. 6509399 - Evidence that charcot-marie-tooth disease with tremor coincides with the roussy-levy sy... 20369369 - Evidence for inheritance in patients with vacterl association. 1410199 - The role of psychological factors in gastrointestinal conditions. a review pertinent to... 22985509 - Effects of the active constituents of crocus sativus l., crocins, in an animal model of... 12826919 - Diagnostic threshold for conduct disorder in girls and boys. |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
|
Title: Pediatric radiology Volume: 27 ISSN: 0301-0449 ISO Abbreviation: Pediatr Radiol Publication Date: 1997 May |
Date Detail:
|
Created Date: 1997-07-07 Completed Date: 1997-07-07 Revised Date: 2007-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 0365332 Medline TA: Pediatr Radiol Country: GERMANY |
Other Details:
|
Languages: eng Pagination: 388-96 Citation Subset: IM |
Affiliation:
|
Department of Clinical Genetics, The New Children's Hospital, P. O. Box 3515, Parramatta, NSW 2124, Australia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Bone Diseases, Developmental
/
pathology,
radiography* Congenital Abnormalities / classification Female Femur / abnormalities Humans Humerus / abnormalities Infant, Newborn Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Lateral clustering of the adhesive ectodomain: a fundamental determinant of cadherin function.
Next Document: Heterozygous manifestations in the heritable disorders of the skeleton.