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D J Eteson

Publications and source records attributed to D J Eteson.

7 recordsLinked to original sources
PubMed1993

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.

We report the seventeenth case of the recessive form of the DOOR syndrome. The parents were Guatemalan and not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2-oxoglutarate excretion was normal. The patient was among a subset of DOOR syndrome patients without seizures in infancy. This observation may be useful in discussing the prognosis for newly identified cases.

Abnormalities, Multiple↗
PubMed1986

Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia.

Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of clinical, radiographic, and chondro-osseous histopathologic findings. In addition to the rhizomelic shortening of the limbs and severe clubfoot deformity, which suggest the diagnosis of diastrophic dysplasia, distinguishing features are elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis, which are observed in infancy. This disorder has been reported previously in three infants, all of whom died in the first year of life. Two of these were sisters, suggesting autosomal recessive inheritance. We report four new patients with this distinct skeletal dysplasia, including two children now older than 4 years of age. In both of these patients neonatal contractures have improved with physical therapy and scoliosis has progressed significantly.

Bone Diseases, Developmental↗
PubMed1985

The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia.

We have studied the light microscopic, transmission, and scanning electron microscopic (SEM) findings in 13 cases of thanathophoric dysplasia (TD) and 4 control infants. In the TD growth plate, areas with less abnormal cartilage and bone alternated with areas of severely abnormal cartilage and bone. These latter abnormal areas were always found around tongues of apparent mesenchymal tissue that appeared to penetrate from the investing perichondrium and periosteum. The ultrastructure of the less abnormal areas was similar to that of the control infants, including cell and matrix structure as well as mineralization. The abnormal cartilage and bone had many ultrastructural abnormalities that were also found in the adjacent mesenchymal tissue. The mesenchymal cells, adjacent chondrocytes, and osteoblasts contained dilated endoplasmic reticulum and moderately large intracytoplasmic vacuoles. In the area adjacent to the cartilage, the matrix of the apparent mesenchyme contained thin collagen fibers and proteoglycan granules, whereas the matrix adjacent to the bone contained thick bundles of short collagen fibers. The matrix of the surrounding cartilage and bone resembled the adjacent matrix in the mesenchyme. In addition, many vesicular structures or osmiophilic particles were found in the matrix of the mesenchyme and adjacent cartilage and bone. SEM examination showed normal and abnormal bone trabeculae adjacent to each other. In the abnormal trabeculae, there were large, densely packed osteoblastic and osteocytic lacunae. The calcified collagen fibers had a random orientation, in contrast to the longitudinal orientation in the relatively normal bone. Chemical studies of collagen in the metaphyses of bones from five infants with TD showed a small amount of collagen type III (less than 5%), which was not found in three control infants. Thus, a basic pathogenetic mechanism in the skeletal abnormalities of TD appears to be the focal replacement of the growth plate and periosteum by persisting abnormal mesenchymal-like tissue from which the abnormal bone originates.

Bone Development↗
PubMed1984

Fibrochondrogenesis: radiologic and histologic studies.

Fibrochondrogenesis is a distinct, neonatally lethal, short-limb skeletal dysplasia which was first described in a single patient in 1978. We report the radiographic and morphologic studies of 2 additional unrelated stillborn infants with fibrochondrogenesis. This syndrome has distinct radiographic and chondro-osseous morphologic defects different from those seen in the other known skeletal dysplasias. The long bones are short and dumbbell-shaped with metaphyseal flare. The spine is platyspondylic with superior-inferior clefting defects, and the ribs are short and distally cupped. The growth-plate cartilage is grossly disorganized and has a densely fibrous collagenous matrix when examined by light and electron microscopy. Light, transmission, and scanning electron microscopy shows diaphyseal and metaphyseal trabecular bone to be normal.

Abnormalities, Multiple↗
PubMed1984

Craniofacial defects in the human skeletal dysplasias.

Many of the human skeletal dysplasias are accompanied by significant alterations in craniofacial growth. Several specific disorders have been discussed which show the effects of endochondral and membranous defects in the craniofacial complex. The craniofacial and other skeletal abnormalities observed in the skeletal dysplasias may indicate the sites and timing of the primary defects and provide direction to investigative efforts. In addition, a careful review of known pathogenetic and histomorphologic mechanisms in the skeletal dysplasias can provide valuable clues to the complex interactions necessary for normal craniofacial growth.

Achondroplasia↗