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.

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.

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 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).

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.