Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
BMJ Case Rep ; 17(6)2024 Jun 05.
Article in English | MEDLINE | ID: mdl-38839405

ABSTRACT

A third gravida with osteogenesis imperfecta (OI) type 1, in her 20s, was referred from the Medical Genetics department at 12+ weeks with a prenatal diagnosis of OI type 1 in this fetus for further management. She was wheelchair-bound and keen to continue this pregnancy. She had medical termination in her two previous pregnancies for OI in the fetuses. Ultrasound at 12+ weeks revealed a short-bent femur with sparing of the long bones of the upper limb. Serial ultrasound revealed progressive affliction of the long bones with falling growth profile and polyhydramnios. She was delivered at 36 weeks by caesarean for breech in labour under regional anaesthesia.A multidisciplinary approach, patient determination, and good partner support helped in the successful management of this pregnancy.The neonate had blue sclera, dentigerous imperfecta, bowing of the femur and relatively spared upper limbs. Growth was on the third centile. The mother says she brings the girl for follow-up every 3-6 months to give injection zoledronate. The mother confirms her girl can stand with support, crawl, and speak two-syllable words. Her daughter had to undergo femur corrective osteotomy rush nailing and hip spice application for a closed fracture of the left femur.


Subject(s)
Osteogenesis Imperfecta , Humans , Osteogenesis Imperfecta/diagnosis , Female , Pregnancy , Infant, Newborn , Cesarean Section , Ultrasonography, Prenatal , Perinatal Care/methods , Adult , Femur/abnormalities , Femur/diagnostic imaging , Femur/surgery , Femoral Fractures/surgery , Femoral Fractures/diagnostic imaging
SELECTION OF CITATIONS
SEARCH DETAIL