DIASTROPHIC DWARFISM

被引:39
作者
WILSON, DW
CHRISPIN, AR
CARTER, CO
机构
[1] Royal National Orthopaedic Hospital, London
[2] Hospital for Sick Children, London, Great Ormond Street
[3] Clinical Genetics Research Unit, Institute of Child Health, London
关键词
D O I
10.1136/adc.44.233.48
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Four cases of diastrophic dwarfism are presented. This is an autosomal recessive syndrome with a 1 in 4 risk to sibs. The condition has been confused with achondroplasia and Morquio's disease. Clinical features are a normal head, short limbs, scoliosis, club foot, and joint contractures. There may be also a generalized joint laxity which influences the prognosis. Some patients have a cleft palate and develop swellings of the ears. The main radiological features are dislocations, and delay in appearance and poor development of many limb epiphyses. Spinal changes permit a distinction from achondroplasia and Morquio's disease. Persistent treatment of the contractures and scoliosis is necessary but is both difficult and disappointing.
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页码:48 / &
相关论文
共 15 条
[1]   DIASTROPHIC DWARFISM [J].
AMUSO, SJ .
JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 1968, A 50 (01) :113-&
[2]  
CATEL W, 1951, DIFFERENTIALDIAGNOST
[3]  
Cobb J. R., 1948, OUTLINE STUDY SCOLIO, P261
[4]  
HELWEGLARSEN HF, 1945, ACTA PATHOL MIC SC, V22, P335
[5]   AN IRREGULAR, FAMILIAL CHONDRO-OSSEOUS DEFECT - WITH SUGGESTIONS CONCERNING THE NOMENCLATURE OF THE GENERALISED OSSEOUS DYSTROPHIES [J].
JACKSON, WPU .
JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME, 1951, 33 (03) :420-429
[6]  
KAPLAN M, 1961, ARCH FR PEDIATR, V18, P981
[7]  
KRATZ ROBERT C., 1956, LARYNGOSCOPE, V66, P93
[8]  
LAMY M, 1960, PRESSE MED, V68, P1977
[9]  
LANGER LO, 1965, AMER J ROENTGENOL RA, V93, P399
[10]  
LATO MFM, 1957, AGGION PEDIAT, V8, P189