Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis.

OBJECTIVE: The purpose of the paper was to assess the morphometric parameters to improve the specificity of the ultrasound (US) signs for the early differential diagnosis between two lethal dysplasias, as thanatophoric dysplasia (TD) and osteogenesis imperfecta type 2 (OI-2). METHOD: The diaphyseal length and the bowed shape of long bones associated with vertebral body dimension assessment were investigated in a group of 14 pregnancy terminations carried out in the time period 2007-2013. The definitive diagnosis was established after pregnancy termination by means of skeletal standardized X-rays, histopathology and gene analysis. RESULTS: TD and OI-2 long bones were significantly shorter than controls. No significant differences were observed between the two dysplasias. The bowing angle was higher in OI-2; a true angulation or eventually axial displacement was present only in the latter. Furthermore, they did not show any evidence of vertebral collapse. The thanatophoric dysplasia presented less bowed long bones, and never true angulation. The spine was steadily characterized by flattened anterior vertebral bodies. CONCLUSION: Long bone shortening is not a sufficient and accurate sign for early sonographic differential diagnosis between TD and OI-2. Angled diaphysis, axial diaphyseal displacement and a conserved vertebral body height in the prenatal period support the diagnosis of osteogenesis imperfecta type 2, while moderately regular bowed diaphysis associated with platyspondyly that of thanatophoric dysplasia.

A review of the actual knowledge of the processes governing growth and development of long bones.

Autoptic samples of human bones (from 8 weeks of gestation to 12 years of age) and a second group of serial, skeletal x-rays (required for pathologies not related to bone dysplasia in children from 4 months to 17 years of age) provided the material for the analysis of the physes normal growth mechanism presented in this review. Before the appearance of the ossification centers epiphyseal growth rests exclusively on chondrocytes proliferation (interstitial growth), without any detectable differentiated cellular organization. When endochondral ossification starts a defined spatial disposition of chondrocytes and a corresponding organization of the intercellular matrix is set up, so that it is possible to identify a growth vector corresponding to the columns of piled chondrocytes with direction from hypertrophic toward the proliferative cell layers. The complexity of the tubular bones growth process is well represented by the spatial arrangement of the growth vectors. In the late epiphyseal growth another mechanism is active in addition to endochondral ossification, namely, articular cartilage interstitial growth and subchondral remodelling. The knowledge of the normal mode of organization of the physis and its temporal sequence can help to better understand of the deviaton from the normal development of metaphyseal and epiphyseal dysplasias.

The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hünermann syndrome.

The chondrodysplasia punctatas (CDP) are a group of genetic diseases presenting with the common hallmark of epiphyseal calcific deposits. A 21.3 week female fetus with a clinical and molecular diagnosis of X-linked dominant CDP (CDPX2 or Conradi-Hunermann syndrome) has been investigated with particular attention to the morphology of the calcific deposits (stipplings). A variable combination of normal endochondral ossification centers, calcific deposits, and a mixture of these two were observed in the lumbar spine. The calcific deposits were characterized by a growing phase, corresponding to the expansion of calcification, a steady phase, and a resorbing/remodeling phase, when calcification was progressively reduced through different biological mechanisms. The pathological mechanism of cartilage matrix calcification seemed to influence the morphology and the distribution pattern of vessels inside the epiphysis. These findings fit well with the radiographic observations of progressive regression of stippling with advancing age of the child and also give a morphological correlation.

The surgical treatment of isolated mason type 2 fractures of the radial head in adults: comparison between radial head resection and open reduction and internal fixation.

OBJECTIVES: To compare the outcomes of two different surgical treatments for the management of isolated closed Mason Type 2 radial head fractures. DESIGN: Retrospective study. The Student t test and McPearson chi-square test were used to evaluate whether there was a significance difference between the groups. PATIENTS: Fifty-nine patients with isolated Mason Type 2 radial head fractures. INTERVENTION: Twenty-four patients treated with radial head excision (Group I) and 35 treated with open reduction and internal fixation (Group II). MAIN OUTCOME MEASUREMENTS: Clinical outcomes were assessed using the Broberg and Morrey functional rating scores and the Disabilities of the Arm, Shoulder and Hand (DASH) questionnaire. Orthogonal radiographs were performed on both the elbow and the wrist; these were assessed for the presence of arthritis, heterotopic ossification, and the degree of proximal radial migration. RESULTS: The length of postoperative follow-up was 157 ± 61.84 months (Group I) and 125 ± 39.09 months (Group II). The Broberg and Morrey functional rating score was 86.21 ± 6.10 points and 95.09 ± 4.78 points, respectively. The DASH score was 21.82 ± 6.01 points and 2.81 ± 2.73 points, respectively. Radiologically moderate or severe osteoarthritis was present in the elbows of nine patients in Group I and only two patients in Group II. CONCLUSIONS: Patients with isolated Mason Type 2 radial head fractures treated by open reduction and internal fixation (Group II) had less residual pain, greater range of motion, and better strength than patients treated by radial head excision (Group I). Additionally, Group II had a lower incidence of severe posttraumatic arthritis, which contributed to improved DASH and Broberg and Morrey functional scores. These results support open reduction and internal fixation as the treatment of choice for these fractures. LEVEL OF EVIDENCE: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.

An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia.

We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child.