Biomedical subjects

L O Langer

Publications and source records attributed to L O Langer.

At least 55 records · Page 3Linked to original sources

PubMed1978

Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity.

A two-year-old girl with spondylocostal dysostosis and urinary tract anomalies is described. Genetic counselling to the healthy non-consanguineous parents is based on the hypothesis of autosomal recessive inheritance. At birth this type of spondylocostal dysostosis can be differentiated radiographically from related conditions by the severe and generalized anomaly of the entire vertebral column, and by the typical configuration of the posteriorly-fused ribs. Only the cardinal clinical features of a short trunk and a short, immobile neck are consistently present in all patients. In one group of patients the severe thoracic malformation and lordosis contribute to cardiopulmonary problems with a fatal outcome in early infancy. The roentgenographic changes are less marked in other patients, whose subsequent clinical course is usually without major problems but remains at present insufficiently known.

Abnormalities, Multiple↗

PubMed1978

Dyssegmental dwarfism. A lethal anisospondylic camptomicromelic dwarfism.

Dyssegment dwarfism is a lethal anisospondylic camptomicromelic form of growth retardation that appears to have autosomal recessive inheritance. It is characterized by short neck, cleft palate, narrow chest, severe shortening of long bones and trunk, reduced joint mobility, inguinal hernia, and probably hirsutism and hydroureter/hydronephrosis. Some cases are seen with occipital exencephalocele. The long bones are short and bent with metaphyseal flaring. The vertebral bodies are of different size and many consist of separate ossified masses. The iliac bones are small with hypoplasia of the horizontal and inferior margina. Maturation of cartilage cells at the epiphyseal plates is grossly disturbed and there are puddle-like spaces among the resting cartilage cells.

Abnormalities, Multiple↗

PubMed1978

Melnick-Needles syndrome: radiographic alterations in the mandible.

After the adventitious finding of bilateral loculations in the mandibular rami and erosion of the coronoid processes of the mandible of a patient with Melnick-Needles syndrome (osteodysplasty), the jaws of four other individuals with the same disorder were examined for similar changes. The coronoid process of the mandible was grossly hypoplastic in all patients, and the rami were markedly abbreviated. In four of the five patients the angle was rounded. In three of five patients, loculations of unknown nature were found in the mandibular rami. Several patients exhibited impacted molar teeth.

Adolescent↗

PubMed1978

Dyssegmental dwarfism (?s): lethal anisospondylic camptomicromelic dwarfism.

Explore the source record for details and available documents.

Bone Diseases, Developmental↗

PubMed1977

Acromesomelic dwarfism: manifestations in childhood.

Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.

Achondroplasia↗

PubMed1977

Neurological symptoms in achondroplastic dwarfs--surgical treatment.

Fourteen patients who had neurological symptoms associated with achondroplastic dwarfism and who had spine surgery were analyzed, as were an additional twenty-nine cases reported in the literature. Four types of neurological patterns emerged, based on the onset, symptoms, and physical examination. Some etiological correlation between the anatomical lesion and the result was made in each category, and a reliable prognosis related to the pattern is now possible. Early and appropriately extensive surgery may well be recommended, based on the patients treated.

Achondroplasia↗

PubMed1976

Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.

Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immature shape of pelvis, and disappearance of the punctate calcifications with advancing age. The histologic changes of the resting cartilage include areas of degenerating cartilage which had become partially calcified, cystic changes with severe disturbance of the maturation of the cartilage at the physial plate, and the formation of cancellous bone directly on resting cartilage. Ultrastructural changes are characterized by degeneration of chondrocytes, delicate collagenous fibrils without visible periodicity, and the presence of flocculent material within greatly distended endoplasmic reticulum.

Bone and Bones↗

PubMed1976

A severe infantile micromelic chondrodysplasia which resembles Kniest disease.

This paper describes 3 infants with a severe, generalized chondrodysplasia with short limbs, shortness of stature, relative micrognathia and neonatal respiratory distress in all cases, cleft palate in two and dislocation of lenses in one. They died at 7 and 10 weeks and at 17 months respectively. No autopsy was performed on any of the 3 patients. Roentgenological manifestations include short, broad tubular bones with metaphyseal widening, bowing of leg, thigh and forearm bones, neonatal accelerated carpal bone maturation, short, broad pelvis with wide, flared iliac wings, many gross vertebral abnormalities including most prominently coronal clefts of almost any vertebral body, and short ribs with flared anterior ends. Roentgenographically the condition has some similarities with Kniest disease, or more correctly, the Kniest chondrodysplasia. However, we think that the clinical and roentgenological manifestations are sufficiently unique to permit delineation of the condition of our 3 patients as a "new" entity different from the Kniest chondrodysplasia. Similar cases have been described by Rolland et al. from France and by Dinno et al. from the U.S.A. The later case and our 3 patients were sporadic cases, but the former had a probably affected sibling, suggesting that this disorder is an autosomal recessive trait.

Cleft Palate↗

PubMed1976

The acro-osteolysis syndrome: Morphologic and biochemical studies.

The acro-osteolysis syndrome consists of dissolution of terminal phalanges of the hands and feet, dolichocephaly with multiple wormian bones, delayed closure of cranial sutures, absence of frontal sinuses, a prominent occipital ridge, skeletal demineralization, vertebral and extremity fractures, joint laxity, and coarse hair. Studies of bone morphology reveal diminished bone density and bone formation. Osteoblasts have widely dilated smooth endoplasmic reticulum. It is postulated that an abnormality of a structural protein is the pathogenic basis of this disease.

Abnormalities, Multiple↗

PubMed1975