منابع مشابه
Diastrophic dwarfism.
Diastrophic dwarfism is an unusual variety of short-limb dwarfism characterized by the pathognomic triad of ear calcifications, hitch-hiker thumbs, and severe clubfoot. Other clinical features include joint contractures and subluxations, symphalagism of the fingers, kyphoscoliosis, hip dysplasia, and occasional cleft palate. Radiographic findings include flaring of the metaphyses of tubular bon...
متن کاملTotal knee arthroplasty in a patient with diastrophic dwarfism.
Diastrophic dwarfism is an autosomal recessive disease that predominantly occurs in the Finnish population (1 in 33,000) but has been known to occur worldwide. Affected patients present with multiple cartilaginous anomalies and early degeneration of weight-bearing joints. Once past infancy, life expectancy is favorable and patients may undergo multiple surgical procedures throughout their lifet...
متن کاملDiastrophic dysplasia: case report.
This report describes the clinical features of an 11-yearold male whose genetic evaluation supports the diagnosis of diastrophic dysplasia. A professional team evaluated and treated him with regard to facial development, various physical problems, and pediatric dental management of his intraoral conditions. Cardiopulmonary function often is compromised because of kyphoscoliosis. This along with...
متن کاملThanatophoric dwarfism.
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified elements of the vertebral bodies. Perhaps the m...
متن کاملDevelopment of the hip in diastrophic dysplasia.
We examined 50 patients with diastrophic dysplasia both clinically and radiologically. Two legally aborted fetuses were dissected. The mean age of the patients was 16.2 years (newborn to 38) and the mean follow-up was 11.4 years (3 months to 34 years). The fetal hips and MRI of newborn infants showed congruity and no significant joint deformity. Flexion contracture of the hip became evident lat...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1969
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.44.233.48