* Polish Mother’s Memorial Hospital, Department of Genetics, 281/289 Rzgowska St. 93-338 Lodz, Poland; Ph: 48 42 271 11 83;
** Department of Radiology, Polish Mother"s Memorial Hospital;
*** Department of Maternal-Fetal MedicineMother and Child Institute, Polish Mother’s Memorial HospitalDepartment of Diagnostic Imaging, Warsaw, Poland;
**** Department of Neonatal Medicine, District Specialist Hospital, Radom, 5 Aleksandrowicza street, 26-617 Radom.
Case report
This is a case of campomelic dysplasia in a third trimester fetus. A 23-year-old primigravida with unremarkable family, pregnancy and environmental history presented at 38 weeks because of shortening and bowing of the long bones and polyhydramnios, noticed in a different institution. Our examination confirmed these findings and additionally showed relatively normally sized rib cage circumference, abnormal cervical spine, with increased lordosis, micrognathia, hypertelorism with shallow orbits, hypoplastic clavicles, abnormal shape of the skull, abnormal position of the feet and suspicion of the abnormal position of fingers and toes. We looked also for a tibial skin dimple and suspected its presence in the image, however it does not look clear on the still image.
The baby was born at term in the Radom hospital and as expected required immediate intubation. The findings were confirmed after birth, and additionally 11 pairs of ribs were noted on the radiograph. All these findings together enabled setting the diagnosis of campomelic dysplasia. The baby died in the neonatal period as the result of respiratory insufficiency. SOX9 gene analysis will be performed.
A lesson from this case is that we consider skeletal dysplasias as of good prognosis, as far as survival is concerned, if the thorax is normal, but camptomelic dysplasia is unique in this regard, as the babies die of respiratory problems connected with abnormalities of bronchial and tracheal cartilages despite relatively normal rib"s length. The problem they have is that as they inhale, they tend to collapse their airways.
It is easy to diagnose campomelic dysplasia prenatally by scapular hypoplasia, which is actually a pathognomonic sign in the presence of bowed long bones.
Images 1 and 2: 38 weeks. Image 1 shows fetal shank with small dimple below the knee (not very well visible in static image); Image 2 shows bowed ulna of the fetus.