Leonard O. Langer

Apnea and sudden unexpected death in infants with achondroplasia

Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection. Most were initially thought to have died from sudden infant death syndrome. However, historical and pathologic findings suggest that many of these infants had apnea and sudden unexpected death secondary to acute or chronic compression of the lower brainstem or cervical spinal cord. Infants with achondroplasia evidently are at considerably increased risk for such deaths between 1 month and 1 year of age. Appropriate intervention, given these previously unrecognized risks, may include cervical restraint, polysomnographic evaluation, and apnea monitoring.

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.

Narrow trachea in mucopolysaccharidoses

Nine of 56 patients with mucopolysaccharidoses (MPS) showed small tracheal diameters on their frontal chest radiographs. Autopsy of an MPS I-H (Hurler disease) patient demonstrated that the small calibre was secondary to deposition of glycosaminoglycan (mucopolysaccharide). Autopsies of two patients with other storage diseases, one with geleophysic dysplasia and one with mucolipidosis II, also exhibited compromise of their airways because of storage material accumulation.

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.

Congenital generalized fibromatosis. Case report and literature review.

A typical case of congenital generalized fibromatosis (CGF) is presented and the literature on this entity is reviewed. CGF is a rare condition which is probably heritable. It is manifested in infancy. Because of the unusual biological behavior of the fibromata, two clinical courses occur-death, if vital viscera are involved, or regression of the lesions and survival without significant disability. Including the present example, 63 cases have been reported.

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.

Morquio's disease and mucopolysaccharide excretion

A study of Morquios disease, a heritable disorder of connective tissue, showed good correlation between clinical and radiologic data and urinary excretion of mucopolysaccharides. Patients who had the radiologic criteria of this disorder excreted 2 to 3 times the normal amount of keratosulfate. The rate of excretion appears to decrease with age in patients, as well as in normal children. Although a number of skeleton abnormalities can be confused with those of Morquios disease on the basis of clinical data alone, they can be differentiated by careful radiologic studies and by the rate of keratosulfate excretion.

Nomenclature for the Constitutional (Intrinsic) Diseases of Bone

A nomenclature for the constitutional (intrinsic) diseases of bone was formulated in Paris in November 1969. The purpose of this nomenclature is to standardize the terminology used to designate the different entities which comprise this group of diseases.

Diagnosis of cruciate ligament injury using single contrast arthrography

To evaluate the accuracy of arthrography for assessing the status of the anterior cruciate ligament (ACL), 212 arthrograms from 212 knees in 205 consecutive pa tients undergoing single contrast arthrography and sub sequent arthroscopy or arthrotomy were reviewed. Cri teria for evaluation of the ACL included the clarity of its radiographic appearance as well as the anterior laxity of the knee as seen on manual stress views. Of the 111 knees having intact ACLs at surgery, 98 (88%) were evaluated correctly by arthrography. Of the 101 knees having a damaged ACL, 85 were read as torn or attenuated on the arthrogram. When the torn and at tenuated ligaments were considered separately, accu racy was decreased. Of the 87 ligaments actually torn, 68 (78%) were read as torn and 9 (10%) as attenuated. Of the 14 actually attenuated, 5 (36%) were read as attenuated and 3 (21 %) as torn. Of 114 arthrograms read as intact, 98 (86%) were correct. Of 77 arthro grams read as torn, 68 (88%), were correct. Of 21 arthrograms read as attenuated, 5 (24%) were correct. Of 114 torn medial menisci, 112 (98%) were correctly diagnosed, as were 38 (69%) of 55 torn lateral menisci. Sixteen of the 17 missed lateral meniscus tears were in knees with torn medial menisci. Single contrast ar thrography is, therefore, highly accurate in distinguish ing intact from damaged ACLs. The distinction between torn and attenuated ligaments, however, is not valua ble.