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Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis.
Author(s) -
Sanders R C,
Greyson-Fleg R T,
Hogge W A,
Blakemore K J,
McGowan K D,
Isbister S
Publication year - 1994
Publication title -
journal of ultrasound in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 91
eISSN - 1550-9613
pISSN - 0278-4297
DOI - 10.7863/jum.1994.13.9.691
Subject(s) - osteogenesis imperfecta , medicine , dwarfism , osteochondrodysplasia , in utero , prenatal diagnosis , dysplasia , pregnancy , pediatrics , anatomy , fetus , genetics , biology , gene , biochemistry , chemistry
The classic features of osteogenesis imperfecta and campomelic dysplasia typically are so specific that these two forms of skeletal dysplasia are among the few that can be diagnosed in the second trimester of pregnancy. We report a series of seven examples of osteogenesis imperfecta and one example of campomelic dwarfism to illustrate the difficulty of differentiating these two disorders in utero. The prenatal sonographic findings in three of the osteogenesis imperfecta cases mimicked campomelic dwarfism, whereas the case of campomelic dwarfism was antenatally diagnosed as osteogenesis imperfecta.