Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.
ABSTRACT The mesomelic chondrodysplasias are a heterogeneous group of dwarfing disorders characterized by shortness of the middle segments of limbs. We report on a 25-week fetus with disproportionate shortness of limbs with an apparently distinct form of mesomelic dysplasia. Radiographic findings at necropsy included ulnar deviation of hands, talipes equinovarus, distal tapering of the humeri, and hypoplastic fibulae, radii, and ulnae. Chondro-osseous morphology showed mild shortness of the physeal columns, overgrowth of perichondral bone, peripheral ingrowth of mesenchymal cells into the physis, and numerous areas of fibrillar degeneration with rings of collagen surrounding the chondrocytes. Ultrastructural findings included a degenerated territorial matrix, pericellular halos of collagen, and dilated loops of rough endoplasmic reticulum in chondrocytes. The radiographic appearance of the long bones is distinct from that of previously described mesomelic dysplasias. The chondro-osseous morphologic findings and the distal tapering of the humerus are somewhat reminiscent of atelosteogenesis type II, but the pattern of matrix degeneration and the presence of inclusion bodies in the chondrocytes distinguish it from disorders of sulfate transport.
- [show abstract] [hide abstract]
ABSTRACT: Four cases of neonatal death dwarfism resembling atelosteogenesis but with some distinctive radiographic and characteristic histopathologic features are reported. The name atelosteogenesis II is proposed for this entity.Pediatric Radiology 02/1987; 17(2):112-8. · 1.57 Impact Factor
Article: Atelosteogenesis.[show abstract] [hide abstract]
ABSTRACT: The name atelosteogenesis is proposed for a lethal chondrodysplasia characterized by deficient ossification of various bones, notably the humerus, femur, thoracic spine, and hand bones. Clinically, the patients have micromelic dwarfism with incurvated legs, club feet, often dislocation of the elbows, and, rarely, a cleft palate. The most characteristic radiographic signs are incomplete ossification of the vertebral bodies with coronal clefts of the lumbar and hypoplasia of the upper thoracic vertebral bodies, a distal hypoplasia and club shape of the humerus and the femur, and the lack of ossification of single phalanges and metacarpals in most patients. Histologically, there are clusters of chondrocytes surrounded by fibrous capsules and, more frequently, degeneration zones containing degenerated chondrocytes and copious amounts of metachromatic material in the epiphyses and the basal zone of the growth plate.American Journal of Medical Genetics 10/1982; 13(1):15-25.
- [show abstract] [hide abstract]
ABSTRACT: A new form of rhizo-mesomelic dwarfism in an 8 1/2-year-old gypsy Slovakian girl is reported. This patient shows some superficial similarity to patients with Robinow syndrome. However, different facies, normal external genitalia and absence of radiographic abnormalities characteristic of Robinow syndrome (malsegmentation of the spine and ribs, short, small tubular bones and bifid terminal phalanges) as well as mesomelic hypoplastic/dysplastic changes in the forearm bones allow us to separate this disorder as a distinctive entity.Pediatric Radiology 02/1995; 25(4):300-2. · 1.57 Impact Factor