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Genetic evaluation of suspected osteogenesis imperfecta (OI).

Byers PH, Krakow D, Nunes ME, Pepin M, American college of medical geneti - Genet. Med. (2006)

Bottom Line: The term OI encompasses a broad range of clinical presentations that may be first apparent from early in pregnancies to late in life, reflecting the extent of bone deformity and fracture predisposition at different stages of development or postnatal ages.Depending on the age of presentation, OI can be difficult to distinguish from some other genetic and nongenetic causes of fractures, including nonaccidental injury (abuse).The strategies for evaluation and the testing discussed here provide guidelines for evaluation that should help to distinguish among causes for fracture and bone deformity.

View Article: PubMed Central - PubMed

Affiliation: University of Washington, Seattle, USA.

ABSTRACT
Osteogenesis imperfecta (OI) is probably the most common genetic form of fracture predisposition. The term OI encompasses a broad range of clinical presentations that may be first apparent from early in pregnancies to late in life, reflecting the extent of bone deformity and fracture predisposition at different stages of development or postnatal ages. Depending on the age of presentation, OI can be difficult to distinguish from some other genetic and nongenetic causes of fractures, including nonaccidental injury (abuse). The strategies for evaluation and the testing discussed here provide guidelines for evaluation that should help to distinguish among causes for fracture and bone deformity.

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Strategies for Prenatal Diagnosis (weeks gestation). From Pepin M, Atkinson M, Starman BJ, Byers PH. Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 1997;17:559–570. ©John Wiley & Sons Limited. Reproduced with permission.
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f1-16778601: Strategies for Prenatal Diagnosis (weeks gestation). From Pepin M, Atkinson M, Starman BJ, Byers PH. Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 1997;17:559–570. ©John Wiley & Sons Limited. Reproduced with permission.

Mentions: Fetal Ultrasound Examination: Ultrasound examination, trans-abdominal (TA) or trans-vaginal (TV)7,8 should be offered as early as 13–14 weeks gestation for a pregnancy at risk for the severe, lethal form of OI (OI type II) and 16–20 weeks for one at risk for OI type III. Ultrasound identification of OI type I and OI type IV has been reported infrequently after 20 weeks gestation on the basis of fetal fracture, but cannot be relied upon.8 (Table 1, Fig. 1)


Genetic evaluation of suspected osteogenesis imperfecta (OI).

Byers PH, Krakow D, Nunes ME, Pepin M, American college of medical geneti - Genet. Med. (2006)

Strategies for Prenatal Diagnosis (weeks gestation). From Pepin M, Atkinson M, Starman BJ, Byers PH. Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 1997;17:559–570. ©John Wiley & Sons Limited. Reproduced with permission.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3110960&req=5

f1-16778601: Strategies for Prenatal Diagnosis (weeks gestation). From Pepin M, Atkinson M, Starman BJ, Byers PH. Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies. Prenat Diagn 1997;17:559–570. ©John Wiley & Sons Limited. Reproduced with permission.
Mentions: Fetal Ultrasound Examination: Ultrasound examination, trans-abdominal (TA) or trans-vaginal (TV)7,8 should be offered as early as 13–14 weeks gestation for a pregnancy at risk for the severe, lethal form of OI (OI type II) and 16–20 weeks for one at risk for OI type III. Ultrasound identification of OI type I and OI type IV has been reported infrequently after 20 weeks gestation on the basis of fetal fracture, but cannot be relied upon.8 (Table 1, Fig. 1)

Bottom Line: The term OI encompasses a broad range of clinical presentations that may be first apparent from early in pregnancies to late in life, reflecting the extent of bone deformity and fracture predisposition at different stages of development or postnatal ages.Depending on the age of presentation, OI can be difficult to distinguish from some other genetic and nongenetic causes of fractures, including nonaccidental injury (abuse).The strategies for evaluation and the testing discussed here provide guidelines for evaluation that should help to distinguish among causes for fracture and bone deformity.

View Article: PubMed Central - PubMed

Affiliation: University of Washington, Seattle, USA.

ABSTRACT
Osteogenesis imperfecta (OI) is probably the most common genetic form of fracture predisposition. The term OI encompasses a broad range of clinical presentations that may be first apparent from early in pregnancies to late in life, reflecting the extent of bone deformity and fracture predisposition at different stages of development or postnatal ages. Depending on the age of presentation, OI can be difficult to distinguish from some other genetic and nongenetic causes of fractures, including nonaccidental injury (abuse). The strategies for evaluation and the testing discussed here provide guidelines for evaluation that should help to distinguish among causes for fracture and bone deformity.

Show MeSH
Related in: MedlinePlus