A case of mandibuloacral dysplasia presenting with features of scleroderma

International Journal of Clinical Practice

Volumn 58, Issue 6, 2004, Pages 635-638

  Cefle, Ayse ^a   Cefle, K ^a,b  

^a KOCAELI UNIVERSITY   (Turkey)

^b NONE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ACROOSTEOLYSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CRANIAL SUTURE; DIFFERENTIAL DIAGNOSIS; FOOT DISEASE; HAND DISEASE; HUMAN; MALE; MANDIBULOACRAL DYSPLASIA; MICROGNATHIA; NOSE MALFORMATION; PRIORITY JOURNAL; RAYNAUD PHENOMENON; SCANTY HAIR; SCHOOL CHILD; SCLERODERMA; SERODIAGNOSIS; SKIN MANIFESTATION; TOOTH MALFORMATION;

ACRO-OSTEOLYSIS; CHILD; FACIES; HUMANS; MALE; MANDIBLE; SCLERODERMA, SYSTEMIC;

EID: 3242886426     PISSN: 13685031     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1368-5031.2004.00139.x     Document Type: Article

References (21)

1. Online Mendelian inheritance in man, OMIM (TM). Baltimore, MD: Johns Hopkins University. MIM Number: #248370. Date last edited 8/23/2002. (Available at: http://www.ncbi.nlm.nih.gov/omim/).
2. Subcommittee for Sleroderma Criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee (1980). Preliminary criteria for the classification of systemic sclerosis (scleroderma). Arthritis Rheum 1980; 23: 581-90.
3. Athreya BH. Juvenile scleroderma. Curr Opin Rheumatol 2002; 14: 553-61.
4. Black CM, Denton CP. Scleroderma and related disorders in adults and children. In: Maddison PJ, Isenberg DA, Woo P, Glass DN, eds. Oxford Textbook of Rheumatology, 2nd edn. New York: Oxford University Press, 1998: 1217-47.
5. Vancheeswaran R, Black CM, David J et al. Childhood-onset scleroderma: is it different from adult-onset disease. Arthritis Rheum 1996; 39: 1041-9.
6. Mauduit G, Cambazard F, Faure M, Thivolet J. Pseudoscleroderma and sclerodermiform states. Ann Med Interne (Paris) 1984; 135: 615-23.
7. Jones KL. Smith's Recognizable Patterns of Human Malformation, 5th edn. Philadelphia: WB Saunders Company, 1997.
8. Schellenberg GD, Miki T, YU C-E et al. Werner syndrome. In: Vogelstein B, Kinzler KW, eds. The Genetic Basis of Cancer, 1st edn. New York: McGraw-Hill, 1998: 347-59.
9. DeBusk FL. The Hutchinson-Gilford progeria syndrome. J Pediatr 1972; 80: 697-724.
10. Wang LL, Levy ML, Lewis RA et al. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet 2001; 102: 11-17.
11. Kitao S, Shimamoto A, Goto M et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999; 22: 82-4.
12. Gray MD, Shen J-C, Kamath-Loeb AS et al. The Werner syndrome protein is a DNA helicase. Nat Genet 1997; 17: 100-3.
13. Young LW, Radebaugh JF, Rubin P, Sensenbrenner JA, Fiorelli G, McKusick VA. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Orig Artic Ser 1971; 7: 291-7.
14. Cusano F, Scarano G. Familial progeria or mandibulo-acral dysplasia? Am J Med Genet 1991; 41: 139.
15. Simha V, Agarwal AK, Oral EA. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab 2003; 88: 2821-4.
16. Eriksson M, Brown WT, Gordon LB et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003; 423: 293-8.
17. Jansen T, Romiti R. Progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acroosteolysis: a case report and brief review of the literature. Pediatr Dermatol 2000; 17: 282-5.
18. Franklyn PP. Progeria in siblings. Clin Radiol 1976; 27: 327-33.
19. Welsh O. Study of a family with a new progeroid syndrome. Birth Defects Orig Artic Ser 1975; 11: 25-38.
20. Oshima J. Comparative aspects of the Werner syndrome gene. In Vivo 2000; 14: 165-72.
21. Hoeffel JC, Mainard L, Chastagner P. Mandibulo-acral dysplasia. Skeletal Radiol 2000; 29: 668-71.