Diastrophic dwarfism.
نویسنده
چکیده
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 bones and flattened epiphyses which appear late. The major orthopedic problem in diastrophic dwarfism is correction of the recalcitrant clubfoot deformity; cervical spine subluxation or kyphoscoliosis may also require intervention. This disorder is inherited as an autosomal recessive condition.
منابع مشابه
Total 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 کاملHealth-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland.
OBJECTIVE The purpose of the present study was to gain a comprehensive view of the quality of life and socio-economic conditions in a more representative sample of patients with diastrophic dysplasia than previously presented. METHODS The study sample comprised 115 patients with diastrophic dysplasia, aged over 18 years. The patients were contacted, and 68 patients (59%) agreed to participate...
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 کاملThe knee joint in diastrophic dysplasia. A clinical and radiological study.
We examined clinically and radiologically the knees of 46 patients (27 females and 19 males) with diastrophic dysplasia. The age of the patients varied from newborn to 38 years. A total of 18 patients was followed during their growth until adolescence. The knees of two legally aborted fetuses appeared on examination to be macroscopically normal and congruous. Excessive valgus deformity of the t...
متن کاملCartilage Disorders: The importance of being sulphated
Mutations within a gene encoding a novel sulphate transporter cause diastrophic dysplasia. This finding has implications for the management of the disorder and for understanding the structure and function of cartilage.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Developmental medicine and child neurology
دوره 11 2 شماره
صفحات -
تاریخ انتشار 1969