Biomedical subjects
Publications and source records attributed to R K Beals.
This report describes a 14-year-old girl presenting with unilateral distal leg edema which developed on the basis of popliteal vein compression by a large osteochondroma of the distal femur. Excision of the osteochondroma relieved the venous obstruction, and the leg returned to normal. Lesions of tibial arteries and veins caused by osteochondromas of the distal femur are discussed.
A genetic study of 50 Maori kindreds suggests club foot to be inherited as a polygenic trait as in Caucasians. A higher incidence of right foot involvement was present in the Maori. Empiric risk data indicated that if the index patient was female, the chance of subsequent children being affected was four percent. If the index patient was male, the chance of subsequent children being affected was nine percent, and if parent and child were affected, the chance of subsequent children being affected was 30 percent. These risks are much higher than found in Caucasians.
Three infants with generalized joint laxity and a negative family history had painful episodes of snapping of one or both knees caused by involuntary, momentary lateral subluxation of the tibia. These episodes of subluxation appeared to be due to involuntary contraction of the biceps femoris muscle. Older children learned to produce the phenomenon voluntarily. Treatment should be symptomatic, since the two children who were followed gradually stopped having involuntary subluxations.
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.
Three brothers with mannosidosis were studied, and their clinical and biochemical manifestations are compared with those of 41 cases in the literature. All three boys have psychomotor and growth retardation, characteristic facies, recurrent respiratory infections, sensorineural deafness, craniosynostosis, protuberant abdomens, and thin limbs. Roentgenographic findings of mild dysostosis multiplex, thick calvaria, abnormally contoured vertebrae, coarse trabeculi and thin cortices are consistent with those of reported cases. The lymphocytes of peripheral blood and bone marrow are vacuolated. Alpha-mannosidase deficiency in leukocytes and cultured skin fibroblasts and glycoproteinuria have been documented. The biochemistry of this glycoproteinosis and the pitfalls in diagnosis, such as improper assay conditions of pH and substrate concentration, are discussed. Extrapolation of in vitro and animal model studies suggest that trace metal therapy may be more effective than attempts at enzyme replacement to treat this hereditary storage disease.
Hereditary Arthro-ophthalmopathy (The Stickler Syndrome) is a relatively common dominantly inherited disorder of connective tissue. A wide range of musculoskeletal involvement occurs including marfanoid habitus, kyphosis, scoliosis, slipped epiphyses, joint laxity and degenerative arthritis. Congenital myopia and micrognathia are the most characteristic non-skeletal features. An affected family is reported who also exhibit protrusio acetabuli. It is important to recognize this syndrome for both diagnostic and therapeutic purposes.
The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.
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Dyschondrosteosis is a syndrome of Madelung's deformity, mesomelia and mild short stature that is transmitted by autosomal dominant inheritance. Most examples of Madelung's deformity are due to Dyschondrosteosis. Three affected kindreds are described, two having radiographically proven male to male transmission. A possible association with mental retardation has been postulated on the basis of its presence in four of eleven affected individuals in three kindreds. Dyschondrosteosis exhibits little functional impairment or cosmetic deformity suggesting that therapy is usually unnecessary.
Twenty-five patients with unilateral partial absence of the pectoral major muscle were reviewed to determine the presence of fetal insult, associated anomalies, neoplasia, and prognosis. Fifteen had ipsilateral synbrachydactyly (the Poland Anomaly) which varied in severity from minimal findings to nearly complete absence of the hand. The pattern of abnormality was remarkably uniform with maximal involvement of the midhand and least involvement of the thumb and small finger. The etiology of this condition remains unknown although fetal insult is suggested in some cases. Although reports in the literature suggest a relationship with childhood leukemia, no malignancies were found in these children. None was found to have serious associated anomalies and all were judged to be of normal intelligence, suggesting a generally good prognosis.
A radiographic study of the carrying angle in 422 patients demonstrated that the carrying angle increased with age, but there were no real differences in males and females. Apparent differences may be explained by increased joint laxity in females, permitting a greater degree of extension.
Echocardiographic and phonocardiographic findings in 35 patients with Marfan's Syndrome and ten patients without Marfan's or other clinically apparent connective tissue disorders but with angiographic and echocardiographic evidence of mitral prolapse are reported and compared. Echocardiography revealed aortic root dilatation and/or mitral valve prolapse in 97% of the patients with Marfan's Syndrome. Aortic root dilatation was found in 60% of this group (74% of males, 33% of females) while mitral valve prolapse was found in 91% (87% of males, 100% of females). The incidence of aortic dilatation and mitral prolapse in patients with Marfan's syndrome was essentially equal in children and adults of the same sex. None of the nine adults or one child with mitral prolapse but without evidence of Marfan's Syndrome or other clinically apparent connective tissue disorder had aortic root enlargement. Ausculatory examination and phnocardiography revealed abnormalities in 54% of the patients with Marfan's Syndrome. Aortic regurgitation was found in 23% of this group (35% of males, 0% of females) while mitral regurgitation and/or mitral clicks were found in 46% (39% of males, 58% of females). Aortic regurgitation was much more frequent in adult males with Marfan's Syndrome (7/14, 50%) than male children (1/9, 11%), while the incidence of abnormal mitral sounds was essentially the same in adults (33% of males, 60% of females) and children (43% of males, 57% of females) of the same sex with Marfan's Syndrome. Abnormal mitral sounds were more frequent in patients without Marfan's who had mitral prolapse (90%) than in those with Marfan's (46%). It appears that cardiac abnormalities are a consistent manifestation of Marfan's Syndrome and that ultrasound is a more sensitive indicator of these abnormalities in such patients than ausculation or phonocardiography.
A 19-year-old girl with carpal and tarsal osteolysis has been presented. The clinical course was characterized by normal early growth and motor development followed by the insidious onset in early childhood of a progressive, peripheral joint destruction, especially in the tarsal and carpal bones. The patient's course was complicated by acquired spasticity from platybasia, scoliosis, generalized muscle weakness, mild growth failure and corneal clouding.
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