Progressive Diaphyseal Dysplasia: Genetics and Clinical and Radiologic Manifestations

PEDIATRICS ◽  
1984 ◽  
Vol 74 (3) ◽  
pp. 399-405
Author(s):  
Yehezkel Naveh ◽  
Joseph K. Kaftori ◽  
Uri Alon ◽  
Jacob Ben-David ◽  
Moshe Berant
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder ◽  
Generation Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Radiographic Screening ◽  
Osteosclerotic Dysplasia ◽  
Structural Deformity ◽  
Diaphyseal Dysplasia ◽  
Engelmann Disease

Progressive diaphyseal dysplasia was found in a three-generation family including 13 affected individuals, the largest family reported to date. Our study confirms that progressive diaphyseal dysplasia, also known as Engelmann's or Camurati-Engelmann disease, is an autosomal dominant disorder with variable osseous and muscular manifestations. Disease distribution among patients, within a given patient, or even in individual bones is unpredictable. The femur is the most commonly and severely affected bone and hence most useful for radiographic screening of possible patients. Radiographs provide a meaningful assessment of disease activity and extent. The severity of symptoms is generally proportionate to severity of involvement shown by roentgenography. Exophthalmos due to osteosclerotic dysplasia of the skull occurred in more than half of the patients with progressive diaphyseal dysplasia. Twelve-year follow-up of this family, with affected individuals ranging in age from 6 months to 12 years, indicates that progressive diaphyseal dysplasia may progress or become quiescent and be remarkably inactive despite advanced osteosclerosis and structural deformity.

Progressive Diaphyseal Dysplasia (Engelmann's Disease)

Radiology ◽  
1956 ◽  
Vol 67 (2) ◽  
pp. 233-241 ◽  
Author(s):  
Edward B. Singleton ◽  
John R. Thomas ◽  
William W. Worthington ◽  
John R. Hild
Keyword(s):  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia

Engelmann's disease (progressive diaphyseal dysplasia)

1952 ◽  
Vol 40 (2) ◽  
pp. 235-239 ◽  
Author(s):  
Leroy S. Lavine ◽  
Morris T. Koven
Keyword(s):  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia

Progressive diaphyseal dysplasia masquerading as shoulder capsulitis in an adult

1995 ◽  
Vol 14 (5) ◽  
pp. 582-585 ◽  
Author(s):  
D. Schapira ◽  
D. Militeanu ◽  
O. Israel ◽  
I. Misselevich ◽  
Y. Scharf
Keyword(s):  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia

PROGRESSIVE HEREDITARY DIAPHYSEAL DYSPLASIA

PEDIATRICS ◽  
1957 ◽  
Vol 20 (6) ◽  
pp. 966-974
Author(s):  
Kenneth F. Stegman ◽  
J. C. Peterson
Keyword(s):  
The Family ◽  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia

A patient with hereditary progressive diaphyseal dysplasia with severe physical manifestations and bony changes is reported in detail. The diagnosis made at 18 months is the earliest reported. The progression of the physical and roentgenographic changes over a period of 3½ years are noted. In this patient, necrosis and atrophy of muscle were demonstrated in a biopsy. A thorough roentgenographic survey failed to reveal any changes in other members of the family.

PROGRESSIVE DIAPHYSEAL DYSPLASIA: CASE REPORT AND LITERATURE REVIEW

Orthopedics ◽  
1990 ◽  
Vol 13 (8) ◽  
pp. 901-904
Author(s):  
Praveen Aggarwal ◽  
Jyoti P Wali ◽  
Surender K Sharma
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Progressive Diaphyseal Dysplasia ◽  
Diaphyseal Dysplasia
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