PubMed · 11528890
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G Nishimura. 2001. [Pyle disease].. https://pubmed.ncbi.nlm.nih.gov/11528890/
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OBJECTIVE: Recognition of prenatal-onset skeletal dysplasias has improved with advances in ultrasound imaging. Skeletal abnormalities can be recognized by two-dimensional (2D) ultrasound, but generating a precise diagnosis can be challenging. We aimed to determine whether three-dimensional (3D) imaging conferred any advantages over 2D imaging in these cases. METHODS: We studied five women with fetuses of 16-28 gestational weeks referred for abnormal ultrasound skeletal findings. First 2D and then 3D sonography was performed and the results compared. RESULTS: The pregnancies resulted in the following skeletal dysplasias: thanatophoric dysplasia, achondrogenesis II/hypochondrogenesis, achondroplasia, chondrodysplasia punctata (rhizomelic form) and Apert's syndrome. For all five fetuses, the correct diagnosis was made in the prenatal period by analysis of the 2D images. In each case the 3D images confirmed the preliminary diagnosis and for many findings it improved the visualization of the abnormalities. CONCLUSION: The 3D imaging had advantages over the 2D imaging when it came to evaluation of facial dysmorphism, relative proportion of the appendicular skeletal elements and the hands and feet. Most importantly, the patient and referring physician appreciated the 3D images of the abnormal findings more readily which aided in counseling and management of the pregnancy.
We encountered a rare case of bilateral juvenile Blount's disease diagnosed as unilateral at the onset. The patient was a 9-year-old girl who visited our outpatient clinic with pain and deformity in the left knee. Examination of the left knee showed severe varus deformity. Correction of the varus deformity and tibial shortness was carried out at the same time by the callotasis method using an Orthofix external fixator. During follow-up the varus deformity in her right knee gradually progressed. At 18 months after the initial surgery, the right varus deformity and tibial shortness were corrected at the same time by the callotasis method using an Orthofix external fixator; proximal epiphysiodesis was also performed. The coronal-plane alignment of both knees remains good. In cases with bilateral involvement of Blount's disease, the onset of the deformity is usually nearly synchronous. In some cases, however, it begins unilaterally, as with this patient, so it is essential to check both sides by means of tomography or magnetic resonance imaging and not just radiography. Moreover, we must be careful to plan the treatment in such a case so as to anticipate possible leg-length discrepancy problems.