메뉴 건너뛰기




Volumn 16, Issue 4, 2005, Pages 353-362

Mandibuloacral dysplasia: A report of two Egyptian cases

Author keywords

Mandibuloacral dysplasia; Micrognathia; Progeroid facies

Indexed keywords

CHOLESTEROL; LEPTIN; TRIACYLGLYCEROL;

EID: 30444440723     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (4)

References (29)
  • 1
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
    • AGARWL A.K., FRYNS J.P., AUCHUS R.J., GARAG A.: Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum. Mol. Genet., 2003, 12, 1995-2001.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1995-2001
    • Agarwl, A.K.1    Fryns, J.P.2    Auchus, R.J.3    Garag, A.4
  • 3
    • 0035873855 scopus 로고    scopus 로고
    • Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems
    • BRENNAN A.M., PAULI R.M: Hajdu-Cheney syndrome: evolution of phenotype and clinical problems. Am. J. Med. Genet., 2001, 100, 292-310.
    • (2001) Am. J. Med. Genet. , vol.100 , pp. 292-310
    • Brennan, A.M.1    Pauli, R.M.2
  • 4
    • 0038376023 scopus 로고    scopus 로고
    • LMNA is mutated in Hutchinson-Gilford progeria but not in Wiedemann-Rautenstrauch progeroid syndrome
    • GAO H., REGELE R.A.: LMNA is mutated in Hutchinson-Gilford progeria but not in Wiedemann-Rautenstrauch progeroid syndrome. J. Hum. Genet., 2003, 48, 271-274.
    • (2003) J. Hum. Genet. , vol.48 , pp. 271-274
    • Gao, H.1    Regele, R.A.2
  • 7
    • 3242886426 scopus 로고    scopus 로고
    • A case of mandibuloacral dysplasia presenting with features of scleroderma
    • CEFLE A., CEFLE K.: A case of mandibuloacral dysplasia presenting with features of scleroderma. Int. J. Clin. Pract., 2004, 58, 635-638.
    • (2004) Int. J. Clin. Pract. , vol.58 , pp. 635-638
    • Cefle, A.1    Cefle, K.2
  • 9
    • 0025786734 scopus 로고
    • Hallermann-Streiff syndrome: A review
    • COHEN M.M. JR.: Hallermann-Streiff syndrome: a review. Am. J. Med. Genet., 1991, 41, 488-499.
    • (1991) Am. J. Med. Genet. , vol.41 , pp. 488-499
    • Cohen Jr., M.M.1
  • 10
    • 0025746706 scopus 로고
    • Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: A newly recognized form of partial lipodystrophy
    • CUTLER D.L., KAUFMANN S., FREIDENBERG G.R.: Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. J. Clin. Endocrinol. Metab., 1991, 73, 1056-1061.
    • (1991) J. Clin. Endocrinol. Metab. , vol.73 , pp. 1056-1061
    • Cutler, D.L.1    Kaufmann, S.2    Freidenberg, G.R.3
  • 11
    • 4243512326 scopus 로고    scopus 로고
    • Familial mandibuloacral dysplasia
    • J.J. Nordlung, R.E. Boissy, V.J. Hearing, R.A. King, J.P. Ortonne (eds). New York, Oxford University Press
    • ESTERLY N.B., BASELEGA E., DROLET B.A.: Familial mandibuloacral dysplasia. In: The Pigmentary System: Physiology and Pathology. J.J. Nordlung, R.E. Boissy, V.J. Hearing, R.A. King, J.P. Ortonne (eds). New York, Oxford University Press, 1998, 726-728.
    • (1998) The Pigmentary System: Physiology and Pathology , pp. 726-728
    • Esterly, N.B.1    Baselega, E.2    Drolet, B.A.3
  • 12
    • 1542510700 scopus 로고    scopus 로고
    • Aquired and inherited lipodystrophies
    • GARG A.: Aquired and inherited lipodystrophies. N. Engl. J. Med., 2004, 350, 1220-1234.
    • (2004) N. Engl. J. Med. , vol.350 , pp. 1220-1234
    • Garg, A.1
  • 13
    • 0029314871 scopus 로고
    • Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping
    • GELB B.D., EDELSON J.G., DESNICK R.J.: Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nature Genet., 1995, 10, 235-237.
    • (1995) Nature Genet. , vol.10 , pp. 235-237
    • Gelb, B.D.1    Edelson, J.G.2    Desnick, R.J.3
  • 14
    • 0041736002 scopus 로고    scopus 로고
    • Drawing the line in progeria syndromes
    • HEGELE R.A.: Drawing the line in progeria syndromes. Lancet, 2003, 362, 416-417.
    • (2003) Lancet , vol.362 , pp. 416-417
    • Hegele, R.A.1
  • 16
    • 0036460419 scopus 로고    scopus 로고
    • Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia
    • MORAVA E., KARTESZI J., WEISENBACH J., CALIEBE A., MUNDLOS S., MEHES K.: Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Europ. J. Pediat., 2002, 161, 619-627.
    • (2002) Europ. J. Pediat. , vol.161 , pp. 619-627
    • Morava, E.1    Karteszi, J.2    Weisenbach, J.3    Caliebe, A.4    Mundlos, S.5    Mehes, K.6
  • 17
    • 0034722870 scopus 로고    scopus 로고
    • Premature adrenal cortical dysfunction in mandibuloacral dysplasia: A progeroid-like syndrome
    • NG D., STRATAKIS C.A.: Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. Am. J. Med. Genet., 2000, 95, 293-295.
    • (2000) Am. J. Med. Genet. , vol.95 , pp. 293-295
    • Ng, D.1    Stratakis, C.A.2
  • 19
    • 0040920369 scopus 로고    scopus 로고
    • McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, M.D.) and the National Center for Biotechnology Information, National Library of Medicine (Bethesda, M.D.). World Wide Web URL
    • Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, M.D.) and the National Center for Biotechnology Information, National Library of Medicine (Bethesda, M.D.) 2000. World Wide Web URL: http:// www.ncbi.nlm. nih.gov/omim/
    • (2000) Online Mendelian Inheritance in Man, OMIM (TM)
  • 20
    • 0031868037 scopus 로고    scopus 로고
    • Familial mandibule acral dysplasia a report of four cases
    • PRASAD P.V., MDMAVATHY L., SETHURAJAN S.: Familial mandibule acral dysplasia a report of four cases. Int. J. Dermatol., 1998, 37, 614-616.
    • (1998) Int. J. Dermatol. , vol.37 , pp. 614-616
    • Prasad, P.V.1    Mdmavathy, L.2    Sethurajan, S.3
  • 22
    • 0344874046 scopus 로고    scopus 로고
    • Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C
    • SHEN J.J., BROWN C.A., LUPSKI J.R., POTOCKI L.: Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J. Med. Genet., 2003, 40, 854-857.
    • (2003) J. Med. Genet. , vol.40 , pp. 854-857
    • Shen, J.J.1    Brown, C.A.2    Lupski, J.R.3    Potocki, L.4
  • 23
    • 0037564014 scopus 로고    scopus 로고
    • Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy
    • SIMHA V, AGARWAL A.K., ORAL E.A., FRYNS J.P., GARG A.: Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J. Clin. Endocrinol. Metab., 2003, 88, 2821-2824.
    • (2003) J. Clin. Endocrinol. Metab. , vol.88 , pp. 2821-2824
    • Simha, V.1    Agarwal, A.K.2    Oral, E.A.3    Fryns, J.P.4    Garg, A.5
  • 24
    • 0036171687 scopus 로고    scopus 로고
    • Body fat distribution and metabolic derangements in patients with familial partial liopdystrophy associated with mandibuloacral dysplasia
    • SIMHA V., GARG A.: Body fat distribution and metabolic derangements in patients with familial partial liopdystrophy associated with mandibuloacral dysplasia. J. Clin. Endocrinol. Metab., 2002, 87, 776-785.
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 776-785
    • Simha, V.1    Garg, A.2
  • 25
    • 0028893912 scopus 로고
    • Mandibulo-acral dysplasia: Heterogeneity versus variability
    • TORIELLO H.V.: Mandibulo-acral dysplasia: heterogeneity versus variability. Clin. Dysmorphol., 1995, 4, 12-24.
    • (1995) Clin. Dysmorphol. , vol.4 , pp. 12-24
    • Toriello, H.V.1
  • 26
    • 0034684024 scopus 로고    scopus 로고
    • Familial mandibuloacral dysplasia: Report of an additional Italian patient
    • TUDISCO C., CANEPA G., NOVELLI G., DALLAPICCOLA B.: Familial mandibuloacral dysplasia: report of an additional Italian patient. Am. J. Med. Genet., 2000, 94, 237-241.
    • (2000) Am. J. Med. Genet. , vol.94 , pp. 237-241
    • Tudisco, C.1    Canepa, G.2    Novelli, G.3    Dallapiccola, B.4
  • 29
    • 0015068895 scopus 로고
    • New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys
    • YOUNG L.W., RADEBAUGH J.F., RUBIN P., SENSEN-BRENNER J.A., FIORELLI G., MC-KUSICK V.A.: New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. Birth Defects Orig. Art. Ser. VII, 1971, 7, 291-297.
    • (1971) Birth Defects Orig. Art. Ser. VII , vol.7 , pp. 291-297
    • Young, L.W.1    Radebaugh, J.F.2    Rubin, P.3    Sensen-Brenner, J.A.4    Fiorelli, G.5    Mc-Kusick, V.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.