Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?

American Journal of Medical Genetics

Volumn 121 A, Issue 2, 2003, Pages 118-125

  Singh, Jasvinder A ^a,d   Williams, Calvin B ^b   McAlister, William H ^c  

^a UNIVERSITY OF MINNESOTA   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c ST LOUIS CHILDREN S HOSPITAL   (United States)

^d VA MEDICAL CENTER   (United States)

Author keywords

Carpal tarsal osteolysis; Juvenile rheumatoid arthritis; Multicentric osteolysis; Synovitis

Indexed keywords

ADOLESCENT; AMINO ACID URINE LEVEL; ARTHRALGIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; FEMALE; HUMAN; METACARPAL BONE; OSTEOLYSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; SYNDROME; SYNOVITIS; TALOPATELLOSCAPHOID OSTEOLYSIS;

RAPHIA FRATER;

EID: 0043195958     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20181     Document Type: Article

References (22)

1. Al Aqueel A, Al Sewairi W, Edress B, Gorlin RJ, Desnick RJ, Martignetti JA. 2000. Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family. Am J Med Genet 93:11-18.
2. Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S. 2000. New form of idiopathic osteolysis: Nodulosis, arthropathy, and osteolysis (NAO) syndrome. Am J Med Genet 93:5-10.
3. Beals RK, Bird CB. 1975. Carpal and tarsal osteolysis: A case report and review of the literature. J Bone Joint Surg (Am) 57A:681-686.
4. Eisenstein DM, Poznanski AK, Pachman LM. 1998. Torg osteolysis syndrome. Am J Med Genetics 80:207-212.
5. François J, Detrait C. 1950. Dystrophie dermo-chondro-corneenne familiale. Ann Pediatr 174:145-174.
6. Garn SM, Hertzog KP, Poznanski AK, Nagy JM. 1972. Metacarpophalangeal length in the evaluation of skeletal malformation. Radiol 105:375-381.
7. Gluck J, Miller JJ. 1972. Familial osteolysis of the carpal and tarsal bones. J Pediatr 81:506-510.
8. Hall CM. 2002. International Nosology and classification of constitutional disorders of bone (2001). Am J Med Genetics 113:65-77.
9. Hanley WB, McKusick VA, Barranco FT. 1967. Osteochondritis dissecans with associated malformations in two brothers. A review of familial aspects. J Bone Joint Surg (Am) 49A:925-937.
10. Hardegger G, Simpson LA, Segmueller G. 1985. The syndrome of idiopathic osteolysis. Classification, review, and case report. J Bone Joint Surg (Br) 67B:89-93.
11. Hemingway AP, Leung A, Lavender JP. 1983. Familial vanishing limbs: Four generations of idiopathic multicentric osteolyses. Clin Radiol 34:585-588.
12. Martignetti JA, Al Aqeel A, Al Sewairi W, Boumah CE, Kambouris M, Al Mayouf S, Sheth KV, Al Eid W, Dowling O, Harris J, Glucksman MJ, Bahabri S, Meyer BF, Desnick RJ. 2001. Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet 28:261-265.
13. McManus LF, Ballard CA, Walton S, Omer GE. 1972. Carpal and tarsal agenesis with features of essential and hereditary osteolysis. J Bone Joint Surg (Am) 54A:1099-1104.
14. Mubarak SJ, Carroll NC. 1979. Familial osteochondritis dissecans of the knee. Clin Orthop 140:131-136.
15. Pai GS, Macpherson RI. 1988. Idiopathic multicentric osteolysis: Report of two new cases and a review of the literature. Am J Med Genet 29:929-936.
16. Shurtleff DB, Sparkes RS, Clawson DK, Guntheroth WG, Mottet NK. 1964. Hereditary osteolysis with hypertension and nephropathy. JAMA 188:363-368.
17. Szoke G, Vizkelety TL, Renyi-Vamos A, Elek E. 1995. Idiopathic carpotarsal osteolysis with Bartter's syndrome. A case report and review of the literature. Clin Orthop 310:120-129.
18. Torg JS, DiGeorge AM, Kirkpatrick JA, Trujillo MM. 1969. Hereditary multicentric osteolysis with recessive transmission: A new syndrome. J Pediatr 75:243-252.
19. Tyler T, Rosenbaum HD. 1976. Idiopathic multicentric osteolysis. Am J Roentgenol 126:23-31.
20. Urlus M, Roosen P, Lammens J, Victor J, De Smet L, Molenaers G, Fabry G. 1993. Carpotarsal osteolysis. Case report and review of the literature. Genet Couns 4:25-36.
21. Whyte MP, Murphy WA, Kleerekoper M, Teitelbaum SL, Avioli LV. 1978. Idiopathic multicentric osteolysis. Report of an affected father and son. Arthritis Rheum 21:367-376.
22. Winchester P, Grossman H, Lim WN, Danes BS. 1969. A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. Am J Roentgenol 106:121-128.