2009-10-28-10 Osteogenesis imperfecta, type II © Cerekja www.thefetus.net/
Osteogenesis imperfecta, type II
Albana Cerekja, MD, PhD, Juan Piazze MD, PhD.
A 28-year old G2P1 with non contributive history was referred to our unit at 22 weeks of pregnancy. Her first ultrasound examination at 12 weeks was reported normal. Another examination performed at 17 weeks was also done elsewhere, and only biometry revealing a small for gestational age fetus was described.
Our ultrasonographic evaluation at 22 weeks revealed:
hypomineralized fetal skull resulting in better visualization of the proximal intracranial structures;
bell-shaped, narrow thorax with irregular fractured ribs and formation of calluses;
normal four-chamber view of the heart;
short upper limbs (humerus 24 mm), short and fractured radius and ulna, club hand and redundant soft tissues in the forearm;
short lower limbs (femurs 20 mm - lower than 5th percentile), club feet with short toes;
normal amniotic fluid volume (polyhydramnios could develop later in pregnancy);
decreased fetal movements.
Diagnosis of the osteogenesis imperfecta was suspected. The pregnancy was interrupted at 23 weeks of gestation and following pathological examination confirmed the diagnosis.
Images 1, 2, and 3: The images show transverse scans of the fetal head with increased tranparency due to hypomineralization of the cranial bones.
Images 4, 5, and 6: The image 4 compares transverse abdominal size (left part of the image) with the narrow thorax (right part of the image). Note the irregular shape of the ribs due to intrauterine fractures. The images 5 represents sagittal scan of the fetal narrow, bell-shaped thorax. The image 5 shows normal four chamber view of the heart.
Images 7, 8, 9, 10, 11, and 12: The images show short, fractured bones of the upper and lower extremities, redundant soft tissues of the forearm, and club feet with short toes.