A type IV osteogenesis imperfecta family and pregnancy: a case report and literature review / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 1358-1360, 2012.
Article
in English
| WPRIM
| ID: wpr-269242
ABSTRACT
Osteogenesis imperfecta is a group of inherited connective-tissue disorders in which synthesis or structure of type I collagen is defective and causes osseous fragility. Type IV osteogenesis imperfecta is dominant inheritance. Here, we report a case of type IV osteogenesis imperfecta family and their female member's pregnancy. Abnormal sonographic findings (marked bowing and shortening of long bones) and family history made the diagnosis of fetus with osteogenesis imperfecta. The parents decided to give up rescuing the infant and a caesarean section at 27 weeks of gestation was implemented. In conclusion, it is possible to make a prenatal diagnosis of osteogenesis imperfecta by ultrasound. For the pregnant women with osteogenesis imperfecta, management decision should be made on an individual basis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Osteogenesis Imperfecta
/
Pregnancy Complications
/
Diagnostic Imaging
/
Ultrasonography
/
Gestational Age
/
Diagnosis
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
English
Journal:
Chinese Medical Journal
Year:
2012
Type:
Article
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