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Articles » Skeletal » Osteogenesis Imperfecta » Osteogenesis imperfecta type II
2007-05-11-08 Osteogenesis imperfecta, type II © Dudarewicz www.thefetus.net/
Osteogenesis imperfecta, type II

Lech Dudarewicz, MD, PhD*; Lucjusz Jakubowski, MD, PhD*; Tadeusz Biegañski MD, PhD**; Piotr Sieroszewski, MD, PhD***.

*

Polish Mother’s Memorial Hospital, Department of Genetics, 281/289 Rzgowska St. 93-338 Lodz, Poland; Ph: 48 42 271 11 83;

**

Polish Mother’s Memorial Hospital Research Institute. 93-338 £ódŸ, 281/289 Rzgowska St., Poland;

***

Department of Ob/Gyn Ultrasound, I Chair of Gynecology and Obstetrics of the Medical University in Lodz, Wilenska Str. 37, 94-029 Lodz, Poland.

 Case report

A 33-years-old low risk patient presented at our institution at 14+5 weeks of gestation. Head biometry was 14/15 weeks and shortening of long bones with fractures was noted. Echogenicity of calvaria was reduced. Limb long bones were equivalent to 12 weeks, rib fractures and shortening were noted and broken clavicles were visible. Narrow bell-shaped rib cage contributed to edema of head and neck. Nasal bones were weakly ossified - at first glance nuchal thickening and hypo-ossification of nasal bones might have been interpreted as signs of aneuploidy, but generalized bone pathology and narrow rib cage sufficiently explained the presence of the "markers of aneuploidy". The karyotype was normal. The fetus was born at 17 weeks and the babygram confirmed the findings. 

Image 1 and 2: 15th week of pregnancy. Image 1 - subcutaneous edema of the fetus. Image 2 - narrow thorax of the fetus.

 

Image 3 and 4: 15th week of pregnancy. Images show narrow thorax of the fetus with rib fractures (image 4).

 

Image 5 and 6: 15th week of pregnancy. Image 5 - upper limbs of the fetus. Image 6 - deformed clavicles (fractured).

 

Image 7 and 8: 15th week of pregnancy. Femurs of the fetus.

 

Image 9 and 10: 15th week of pregnancy. Humerus of the fetus.

 

Image 11: Radiogram of the baby.

Videos 1 and 2: 15th week of pregnancy. Video 1 - weakly ossified nasal bones of the fetus. Video 2 - upper limbs of the fetus.

 

 

 

 

 

Videos 3 and 4: 15th week of pregnancy. Video 3 - narrow thorax of the fetus. Video 4 - longitudinal view of the fetus with narrow thorax.

 

 

 

 

 

Videos 5 and 6: 15th week of pregnancy. Video 5 - hypomineralized skull and subcutaneous edema of the fetus. Video 6 - skull (face) of the fetus.

 

 

 

 

 

Videos 7 and 8: 15th week of pregnancy. Video 7 - clavicles (fractured, deformed) of the fetus. Video 8 - upper limbs and skull of the fetus.

 

 

 

 

 

 

 

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