[Complex bone abnormalities with fatal outcome: a new familial syndrome].
作者信息
Saint-Martin J, Péborde J, Dupont H, Béguère A, Labès A
出版信息
Arch Fr Pediatr. 1979 Feb;36(2):188-93.
PMID:220926
Abstract
A new lethal disorder affecting two brothers is described. The features were curvature of the long bones, multiple fractures, dysmorphic facies, syndactyly and absence of ossification in the cranial vault. The condition could be inherited as an autosomal recessive or sex linked condition.
摘要
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[Complex bone abnormalities with fatal outcome: a new familial syndrome].
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引用本文的文献
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Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.
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