Intrafamilial phenotypic variability in Engelmann disease (ED): Are ED and ribbing disease the same entity?

American Journal of Medical Genetics

Volumn 91, Issue 2, 2000, Pages 153-156

  Makita, Yoshio ^a   Nishimura, Gen ^b,c   Ikegawa, Shiro ^d   Ishii, Takuma ^a   Ito, Yoshiya ^a   Okuno, Akimasa ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

^b Department of Radiology   (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

Engelmann disease; Phenotypic variability; Progressive diaphyseal dysplasia; Ribbing disease

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE RADIOGRAPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIAPHYSIS DYSPLASIA; FAMILIAL DISEASE; HUMAN; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CAMURATI-ENGELMANN SYNDROME; CHILD; FAMILY HEALTH; FEMALE; FEMUR; HUMANS; HUMERUS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SKULL; TIBIA; ULNA;

EID: 0034058458     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000313)91:2<153::AID-AJMG15>3.0.CO;2-U     Document Type: Article

References (12)

1. Camurati M. 1922. Di uno rano caso di ostite simmetrica ereditaria degli-arti inferiori. Chir Organi Mov 6:662-665.
2. Cockayne EA. 1920. Case of diagnosis. Proc Roy Soc Med 13:132-136.
3. Engelmann G. 1929. Ein fall von osteopathic hyperostotica (sclerotisans) multiplex infantalis. Fortschr Roentgenstr 39:1101-1106.
4. Furia JP, Schwartz HS. 1990. Hereditary multiple diaphyseal sclerosis: a tumor simulator Orthopedics 13:1267-1274.
5. Hundley JD, Wilson FC. 1973. Progressive diaphyseal dysplasia: review of the literature and reported seven cases in one family. J Bone Joint Surg 55A:461-474.
6. Naveh Y, Kaftori JK, Alon U, Ben-David J, Berant M. 1984. Progressive diaphyseal dysplasia: genetics and clinical and radiographic manifestations. Pediatrics 74:399-405.
7. Ribbing S. 1949. Hereditary, multiple, diaphyseal sclerosis. Acta Radiol 31:522-536.
8. Saraiva JM. 1997. Progressive diaphyseal dysplasia: a three-generation family with markedly variable expressivity. Am J Med Genet 71:348-352.
9. Seeger LL, Hewel KC, Yao L, Gold RH, Mirra JM, Chandnani VP, Eckardt JJ. 1996. Ribbing disease (multiple diaphyseal sclerosis): imaging and differential diagnosis. Am J Roentgen 167:689-694.
10. Shier CK, Krasicky GA, Ellis BI, Kottamasu SR. 1987. Ribbing's disease: radiographic-scintigraphic correlation and comparative analysis with Engelmann's disease. J Nucl Med 28:244-248.
11. Sparkes RS, Graham CB. 1972. Camurati-Engelmann disease: genetics and clinical manifestations with review of the literature. J Med Genet 9:73-85.
12. Shuke N, Takashio T, Yamamoto W, Usui K, Aburano T, Sakuraba N, Okuno A. 1997. Bone scintigraphy in a patient with progressive diaphyseal dysplasia. Clin Nucl Med 22:791-792.