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Campomelic dwarfism

โœ Scribed by Andrew K. Poznanski; John F. Holt


Book ID
118974411
Publisher
Elsevier Science
Year
1973
Tongue
English
Weight
59 KB
Volume
8
Category
Article
ISSN
0037-198X

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๐Ÿ“œ SIMILAR VOLUMES


Acampomelic campomelic syndrome
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Campomelic syndrome (or campomelic dysostosis, CD; MIM \*114290) is an autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of long bones, especially of the lower limbs. Additional radiological and clinical ยฎndings are 11 pairs of ribs and a bell-shaped thorax, hyp

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We report on 4 patients with the campomelic syndrome (CS) in whom postmortem angiog raphy of the lower limbs was performed. Of the 4 patients, 3 were phenotypic females (2 of them with a 46,XY karyotype) and one was a male with a normal 46,XY karyotype. Three fulfilled the criteria of CS, and one (p

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