Premium
Prenatal diagnosis of severe osteogenesis imperfecta
Author(s) -
Constantine G.,
McCormack J.,
McHugo J.,
Fowlie A.
Publication year - 1991
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970110205
Subject(s) - osteogenesis imperfecta , medicine , prenatal diagnosis , prenatal ultrasound , osteochondrodysplasia , pediatrics , ultrasound , radiology , surgery , fetus , pregnancy , pathology , genetics , biology
The ultrasound findings in a series of 15 prenatally diagnosed cases of severe osteogenesis imperfecta types IIA, IIB, IIC, and III are described, eleven being detected on routine scans of women with no relevant history. As most cases of osteogenesis imperfecta type IIA are dominant sporadic mutations, the importance of prenatal diagnosis during routine scanning at a local level is emphasized. In addition to characteristic broad, shortened and fractured long bones, striking features of the chest and head are highlighted which may be encountered during a routine scan, prompting further assessment.