Severe bone changes in a case of Hutchinson-Gilford syndrome

Annales de Genetique

Volumn 45, Issue 3, 2002, Pages 151-155

  De Paula Rodrigues, Giselle Helena ^a   Tâmega, Izilda das Eiras ^a   Duque, Gustavo ^b   Spinola Dias Neto, Vicente ^a  

^a PONTIFÍCIA UNIVERSIDADE CATÓLICA DE SÃO PAULO   (Brazil)

^b ROYAL VICTORIA HOSPITAL   (Canada)

Author keywords

Congenital abnormalities; Hutchinson Gilford syndrome; Osteolysis; Premature aging; Progeria

Indexed keywords

ALOPECIA; ARTERIOSCLEROSIS; ARTICLE; BONE DEVELOPMENT; BONE MALFORMATION; BONE RADIOGRAPHY; CASE REPORT; CHILD GROWTH; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; FEMALE; HUMAN; HYPERLIPIDEMIA; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; LIFESPAN; MICROGNATHIA; NOSE MALFORMATION; OSTEOLYSIS; OSTEOPENIA; PREMATURE AGING; PROGERIA; SCHOOL CHILD; SCOLIOSIS; SHORT STATURE; BODY HEIGHT; BONE; CHILD; GENETICS; PATHOPHYSIOLOGY;

ALOPECIA; BODY HEIGHT; BONE AND BONES; CHILD; FEMALE; HUMANS; PROGERIA;

EID: 0036660684     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(02)01119-X     Document Type: Article

References (30)

1. J. Hutchinson, Congenital absence of hair and mammary gland with atrophic condition of skin and its appendages in a boy whose mother had been almost totally bald from alopecia areata from the age of six, Medicochir. Trans. 69 (1886) 473-477.
2. M. Gilford, Progeria - A form of senilism, Practitioner 73 (1904) 188-217.,
3. P.P. Franklin, Progeria in siblings, Clin. Radiol. 27 (1976) 327-333.
4. EL. De Busk, The Hutchinson-Gilford progeria syndrome, J. Pediatrics 80 (1972) 697-724.
5. J.U. Monu, L.B. Benka-Coker, Y Fatunde, Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases, Skeletal Radiol. 19 (1990) 585-590.
6. W.T. Brown, J.B. Little, J. Epstein, J.R. Williams, DNA repair defect in progeric cells, Birth Defects 14 (1978) 417-430.
7. J. Kunze, F. Majewski, P. Montgomery, De Barsey syndrome - An autosomal recessive progeroid syndrome, Eur. J. Pediatrics 144 (1985) 348-354.
8. W.T. Brown, F.J. Kieras, G.E. Houck, R. Dutkovski, E.C. Jenkins, A comparison of adult and childhood progerias: Werner syndrome and Hutchinson-Gilford syndrome, Adv. Exp. Med. Biol. 190 (1992) 229-244.
9. J.A. Badame, Progeria, Arch. Dermatol. 125 (1989) 540-544.
10. V. Chawla, P.B.P. Tawodzera, J.N. Chukwu, Progeria: Report of two cases and literature review, East African Med. J. 63 (1986) 749.
11. T. Djupesland, Progeria, Acta Pediatrica 51 (1962) 438-441.
12. J.I. Rodriguez, P.P. Alonso, R. Funes, J. Perez-Rodriguez, Lethal neonatal Hutchinson-Gilford progeria syndrome, Am. J. Med. Genet. 82 (1999) 242-248.
13. F.P. Fernandez, A.T. Mc Laren, D.F. Slowie, Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems, Eur. J. Ped. Surg. 2 (1992) 378-382.
14. M. Hashem, Progeria: A pathologic study, J. Pediatrics 57 (1960) 70-77,
15. J.E, Abdenur, W.T. Bron, S. Friedman, M. Smith, F. Lifshitz, Response to nutritional and growth hormone treatment in progeria, Metab. Clin. Experimental 46 (1996) 851-856.
16. P.B. Baker, N. Baba, C.P. Boesel, Cardiovascular abnormalities in progeria, Arch. Pathol. Lab. Med. 150 (1981) 384-386.
17. A.S. Smith, M. Wiznitzer, B.A. Karaman, S.J. Horwitz, C.F. Lanzieri, MRA detection of vascular occlusion in a child with progeria, Am. J. Neurorad. 14 (1993) 441-443.
18. Y. Nagamura, T. Konishi, K. Hongou, A case of progeria syndrome with cerebral infarction, No To Hattatsu (Japan) 22 (1990) 71-76.
19. J. Uitto, Searching for clues to premature aging, Trends Endo Metab. 13 (2002) 140-141.
20. G.M. Martin, J. Oshima, Lessons from human progeroid syndromes, Nature 408 (2000) 263-266.
21. A.B. Mukherjee, C. Costello, Aneuploidy analysis of fibroblasts of human premature aging syndromes by FISH during in vitro cellular aging, Mech. Ageing Dev. 103 (1998) 209-222.
22. I.M. Rosenthal, I.P. Bronstein, F.D. Dallenback, S. Pruzansky, A.K. Rosenwald, Progeria: Report of a case with cephalometric roentgenograms and abnormally high concentrations of lipoproteins in serum, Pediatrics 18 (1956) 565-577.
23. D.B. Villee, G. Nichols, N.B. Talbot, Metabolic studies in two boys with classical progeria, Pediatrics 43 (1969) 207-216.
24. M. Zebrower, F.J. Kieras, W.T. Brown, Urinary hyaluronic acid elevation in Hutchinson-Gilford progeria syndrome, Mech. Ageing Dev. 35 (1986) 39-46.
25. S. Gupta, Subpopulations of human T lymphocytes. Imbalance of T cell subsets in patients with progeria and Werner's syndrome, Gerontology 27 (1981) 181-186.
26. M. Harjacek, D. Batinic, V. Sarnavka, B. Uzarevic, D. Mardesic, M. Marusic, Immunological aspects of progeria (Hutchinson-Gilford syndrome) in a 15-month-old child, Eur. J. Pediatrics 150 (1990) 40-42.
27. L. Hamer, F. Kaplan, M. Fallon, The musculoskeletal manifestations of progeria. A literature review, Orthopaedics 11 (1988) 763.
28. M.B. Ozonoff, A.B. Cemmet, Progressive osteolysis in progeria, Am. J. Roentgenol. 100 (1967) 75-79.
29. C. Moen, Orthopedic aspects of progeria, J. Bone J. Surg. 64 (1982) 542-546.
30. R.C.K. Sood, B.R. Rao, M. Berry, Progeria syndrome with characteristic deformation of proximal radius observed on CT, Acta Radiologica 32 (1991) 67-68.