technologies in the dysmorphology screen

• Equipment:

  Faxitron X-ray Model MX-20 (Specimen Radiography System, Illinois, USA), NTB Digital X-ray Scanner EZ 40 (NTB GmbH, Diepholz, Germany)

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• Parameters:

  Skull shape, Orbit, Mandible, Maxilla, Teeth, Vertebrae (cervical, thoracic, lumbar, sacral, caudal), Scapulas, Clavicle, Humerus, Ulna, Radius, Ribs, Pelvis, Femur, Tibia, Fibula, Digits, Joints.

  
  

• Equipment:

  pDEXA Sabre X-ray Bone Densitometer (Norland Medical Systems. Inc., Basingstoke, Hampshire, UK; distributed by Stratec Medizin-technik GmbH, Pforz-heim, Germany).

• Parameters:

  Total-body bone mineral density (BMD), partial bone mineral density (pBMD = BMD excluding skull), specific bone mineral density (sBMD = BMD related to the body weight), total-body bone mineral content (BMC), bone content (BMC related to the body weight), body length, body weight, fat mass, fat content (fat mass related to the body weight), bone-free lean tissue mass, lean content (lean mass related to the body weight).

• Equipment:

  Stratec XCT Research SA+ (Stratec Medizintechnik GmbH, Pforzheim, Germany).

• Parameters:

  Total volumetric bone mineral density, content and area of the trabecular, cortical, and total bone. Measurement of the distal femoral metaphysis and diaphysis in vivo and ex vivo.

• Equipment:

  VAMP Tomoscope 10010 m, Version 1.2 (VAMP GmbH, Erlangen, Germany). For analysis of data, ImpactView 3.0 (VAMP GmbH, Erlangen, Germany) is used. ImpactView is an image viewer with 3D capabilities.

• Equipment:

  Tecan GENios Pro Plate Reader, Tecan Columbus Pro Plate Washer (Tecan Deutschland GmbH, Crailsheim, Germany). For analysis of the data, Magellan Software package (Version V 5.03) from Tecan was used. Magellan is a universal reader control and data reduction software for analysing data generated from microplate tests using Tecan measuring devices.

• Parameters:

  Measurement of markers of bone metabolism and hormonal regulation like osteocalcin, C-terminal telopeptide (CTX), sRANKL, tartrate-resistant isoenzyme of acid phosphatase (TRAP5b) by ELISA.

• Equipment:

  Servo-hydraulic test machine from Instron Model 3342

• Parameters:

Measurement of plastic and elastic stability or fracture parameters of bones.

• Equipment:

  Staining with alcian blue (cartilage) and alizarin red (bone).

• Parameters:

  Enables the observation of the endochondral ossification process in order to assess any cartilage or bone malformations.