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Volumn 23, Issue 3, 1997, Pages 709-727

Syndromes and arthritis

Author keywords

[No Author keywords available]

Indexed keywords

ARTHRALGIA; ARTHRITIS; CHILD; CHROMOSOME DISORDER; DIFFERENTIAL DIAGNOSIS; HUMAN; JOINT FUNCTION; JOINT STIFFNESS; JUVENILE RHEUMATOID ARTHRITIS; METABOLIC DISORDER; PRIORITY JOURNAL; REVIEW; SYMPTOM;

EID: 0030870899     PISSN: 0889857X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0889-857X(05)70354-9     Document Type: Article
Times cited : (16)

References (114)
  • 1
    • 0018221090 scopus 로고
    • Pathological features of a familial arthropathy associated with congenital flexion contractures of fingers
    • B.H. Athreya H.R. Schumacher Pathological features of a familial arthropathy associated with congenital flexion contractures of fingers Arthritis Rheum 21 1978 429 437
    • (1978) Arthritis Rheum , vol.21 , pp. 429-437
    • Athreya, B.H.1    Schumacher, H.R.2
  • 3
    • 0018394849 scopus 로고
    • Episodic arthritis in children with cystic fibrosis
    • A.J. Newman B.M. Ansell Episodic arthritis in children with cystic fibrosis J Pediatr 94 1979 594 596
    • (1979) J Pediatr , vol.94 , pp. 594-596
    • Newman, A.J.1    Ansell, B.M.2
  • 7
    • 0027157164 scopus 로고
    • Inflammatory arthropathies in children with chromosomal abnormalities
    • D.H. Ihnat G. McIlvain-Simpson K. Conard Inflammatory arthropathies in children with chromosomal abnormalities J Rheumatol 20 1993 742 746
    • (1993) J Rheumatol , vol.20 , pp. 742-746
    • Ihnat, D.H.1    McIlvain-Simpson, G.2    Conard, K.3
  • 8
    • 0026659320 scopus 로고
    • Pathogenesis of hypertrophic osteoarthropathy
    • M. Martinez-Lavin Pathogenesis of hypertrophic osteoarthropathy Clin Exp Rheumatol 10 1992 49 50
    • (1992) Clin Exp Rheumatol , vol.10 , pp. 49-50
    • Martinez-Lavin, M.1
  • 10
    • 85114545216 scopus 로고    scopus 로고
    • F Zulian, R Schumacher, A Colore, et al. Juvenile Arthritis in Turner Syndrome, A multicenter study [Submitted]
  • 11
    • 0020638538 scopus 로고
    • Immunoglobulin levels, T cell markers, mitogen responsiveness, and thymic hormone activity in Turner's syndrome
    • R. Lorini A.G. Ugazio V. Cammareri Immunoglobulin levels, T cell markers, mitogen responsiveness, and thymic hormone activity in Turner's syndrome Thymus 5 1986 61 66
    • (1986) Thymus , vol.5 , pp. 61-66
    • Lorini, R.1    Ugazio, A.G.2    Cammareri, V.3
  • 12
    • 0017467411 scopus 로고
    • Intracellular collagen fibers at the pannus-cartilage junction in rheumatoid arthritis
    • E.D. Harris A.M. Glauert A.H.G. Murley Intracellular collagen fibers at the pannus-cartilage junction in rheumatoid arthritis Arthritis Rheum 20 1977 657 665
    • (1977) Arthritis Rheum , vol.20 , pp. 657-665
    • Harris, E.D.1    Glauert, A.M.2    Murley, A.H.G.3
  • 13
    • 85114534203 scopus 로고
    • Clinicopathological studies of oculocerebrorenal syndrome of Lowe
    • M.A. Martin P.E. Sylvester Clinicopathological studies of oculocerebrorenal syndrome of Lowe J Ment Def Res 24 1980 1 6
    • (1980) J Ment Def Res , vol.24 , pp. 1-6
    • Martin, M.A.1    Sylvester, P.E.2
  • 14
    • 0014250329 scopus 로고
    • Progressive morphological renal changes in oculocerebrorenal syndrome of Lowe
    • C.L. Witzleben E.J. Schoen W.H. Tu Progressive morphological renal changes in oculocerebrorenal syndrome of Lowe Am J Med 44 1968 319 324
    • (1968) Am J Med , vol.44 , pp. 319-324
    • Witzleben, C.L.1    Schoen, E.J.2    Tu, W.H.3
  • 15
    • 0030951648 scopus 로고    scopus 로고
    • JRA-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)
    • K.E. Sullivan D.M. McDonald-McGinn D.A. Driscoll JRA-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome) Arthritis Rheum 40 1997 430 436
    • (1997) Arthritis Rheum , vol.40 , pp. 430-436
    • Sullivan, K.E.1    McDonald-McGinn, D.M.2    Driscoll, D.A.3
  • 16
    • 0001689095 scopus 로고
    • The simultaneous occurrence of rheumatoid arthritis and agammaglobulinemia
    • R.A. Good J. Rotstein W.F. Mazzitello The simultaneous occurrence of rheumatoid arthritis and agammaglobulinemia J Lab Clin Med 49 1957 343 357
    • (1957) J Lab Clin Med , vol.49 , pp. 343-357
    • Good, R.A.1    Rotstein, J.2    Mazzitello, W.F.3
  • 17
    • 0027466795 scopus 로고
    • Arthritis associated with primary agammaglobulinemia: New clues to its immunopathology
    • J. Sany C.H. Jorgensen J.M. Anaya Arthritis associated with primary agammaglobulinemia: New clues to its immunopathology Clin Exp Rheum 11 1993 65 69
    • (1993) Clin Exp Rheum , vol.11 , pp. 65-69
    • Sany, J.1    Jorgensen, C.H.2    Anaya, J.M.3
  • 18
    • 0022213722 scopus 로고
    • Familial granulomatous arthritis, iritis, and rash
    • E.B. Blau Familial granulomatous arthritis, iritis, and rash J Pediatr 107 1985 689 693
    • (1985) J Pediatr , vol.107 , pp. 689-693
    • Blau, E.B.1
  • 19
    • 0027227934 scopus 로고
    • Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis
    • S.A. Raphael E.B. Blau W.H. Zhang Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis Am J Dis Child 147 1993 842 848
    • (1993) Am J Dis Child , vol.147 , pp. 842-848
    • Raphael, S.A.1    Blau, E.B.2    Zhang, W.H.3
  • 20
    • 0020957250 scopus 로고
    • A familial syndrome of pericarditis, arthritis, and camptodactyly
    • M. Martinez-Lavin A. Buendia E. Delgado A familial syndrome of pericarditis, arthritis, and camptodactyly N Engl J Med 309 1983 224 225
    • (1983) N Engl J Med , vol.309 , pp. 224-225
    • Martinez-Lavin, M.1    Buendia, A.2    Delgado, E.3
  • 21
    • 0022638435 scopus 로고
    • The camptodactyly-arthropathy-pericarditis syndrome: Case report and literature review
    • R.M. Laxer B.J. Cameron D. Chaisson The camptodactyly-arthropathy-pericarditis syndrome: Case report and literature review Arthritis Rheum 29 1986 439 444
    • (1986) Arthritis Rheum , vol.29 , pp. 439-444
    • Laxer, R.M.1    Cameron, B.J.2    Chaisson, D.3
  • 22
    • 0016782993 scopus 로고
    • Dominant familial arthritis with scoliosis
    • J.G. Rogers V.A. McKusick Dominant familial arthritis with scoliosis Bergsma D. Disorders of Connective Tissue 1975 Stratton Intercontinental Medical Book Corp. New York 75 80
    • (1975) , pp. 75-80
    • Rogers, J.G.1    McKusick, V.A.2
  • 24
    • 0015634993 scopus 로고
    • Familial histiocytic dermatoarthritis: A new syndrome
    • I. Zayid S. Farraj Familial histiocytic dermatoarthritis: A new syndrome Am J Med 54 1973 793 800
    • (1973) Am J Med , vol.54 , pp. 793-800
    • Zayid, I.1    Farraj, S.2
  • 25
    • 0023546841 scopus 로고
    • Familial histiocytic dermatoarthritis: Histologic and ultrastructural findings in two cases
    • M. Valente A. Parenti R. Cipriani Familial histiocytic dermatoarthritis: Histologic and ultrastructural findings in two cases Am J Dermatopathol 9 1987 491 496
    • (1987) Am J Dermatopathol , vol.9 , pp. 491-496
    • Valente, M.1    Parenti, A.2    Cipriani, R.3
  • 26
    • 0014300604 scopus 로고
    • Migratory polyarthritis in familial hypercholesterolemia (type II hyperlipoproteinemia)
    • A.K. Khachadurian Migratory polyarthritis in familial hypercholesterolemia (type II hyperlipoproteinemia) Arthritis Rheum 11 1968 385 393
    • (1968) Arthritis Rheum , vol.11 , pp. 385-393
    • Khachadurian, A.K.1
  • 27
    • 0024370807 scopus 로고
    • Hypercholesterolemic (type II hyperlipoproteinemic) arthritis
    • D. Rimon L. Cohen Hypercholesterolemic (type II hyperlipoproteinemic) arthritis J Rheum 16 1989 703 705
    • (1989) J Rheum , vol.16 , pp. 703-705
    • Rimon, D.1    Cohen, L.2
  • 28
    • 0013875136 scopus 로고
    • The arthritis of familial Mediterranian fever
    • H. Heller J. Gafni D. Michaeli The arthritis of familial Mediterranian fever Arthritis Rheum 9 1966 1 17
    • (1966) Arthritis Rheum , vol.9 , pp. 1-17
    • Heller, H.1    Gafni, J.2    Michaeli, D.3
  • 30
    • 84989991096 scopus 로고
    • Farber's disease: A disorder of mucopolysaccharide metabolism with articular, respiratory, and neurologic manifestations
    • S.M. Bierman T. Edington V.D. Newcomer Farber's disease: A disorder of mucopolysaccharide metabolism with articular, respiratory, and neurologic manifestations Arthritis Rheum 9 1966 620 630
    • (1966) Arthritis Rheum , vol.9 , pp. 620-630
    • Bierman, S.M.1    Edington, T.2    Newcomer, V.D.3
  • 31
    • 0026548210 scopus 로고
    • An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement
    • T. Ishihara F. Uchino T. Fujiwaki An autopsy case of Farber's lipogranulomatosis in a Japanese boy with gastrointestinal involvement Acta Pathologica Japonica 42 1992 42 48
    • (1992) Acta Pathologica Japonica , vol.42 , pp. 42-48
    • Ishihara, T.1    Uchino, F.2    Fujiwaki, T.3
  • 33
    • 0023989192 scopus 로고
    • Idiopathic multicentric osteolysis: Report of two new cases and a review of the literature
    • G.S. Pai R.I. Macpherson Idiopathic multicentric osteolysis: Report of two new cases and a review of the literature Am J Med Genetics 29 1988 929 936
    • (1988) Am J Med Genetics , vol.29 , pp. 929-936
    • Pai, G.S.1    Macpherson, R.I.2
  • 34
    • 0021287627 scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever: A new syndrome
    • Van der Meer J.W.M. J.M. Vossen J. Radl Hyperimmunoglobulinemia D and periodic fever: A new syndrome Lancet 1 1984 1087 1090
    • (1984) Lancet , vol.1 , pp. 1087-1090
    • Van der Meer, J.W.M.1    Vossen, J.M.2    Radl, J.3
  • 35
    • 0028026953 scopus 로고
    • Hyperimmunoglobulinemia D and periodic fever syndrome: The clinical spectrum in a series of 50 patients
    • J.P. Drenth C.J. Haagsma Van der Meer J.W. Hyperimmunoglobulinemia D and periodic fever syndrome: The clinical spectrum in a series of 50 patients Medicine 73 1994 133 144
    • (1994) Medicine , vol.73 , pp. 133-144
    • Drenth, J.P.1    Haagsma, C.J.2    Van der Meer, J.W.3
  • 36
    • 0019462223 scopus 로고
    • The keratitis, ichthyosis, and deafness (KID) syndrome
    • B.A. Skinner M.C. Greist A.L. Norins The keratitis, ichthyosis, and deafness (KID) syndrome Arch Dermatol 117 1981 285 289
    • (1981) Arch Dermatol , vol.117 , pp. 285-289
    • Skinner, B.A.1    Greist, M.C.2    Norins, A.L.3
  • 37
    • 0024467767 scopus 로고
    • Jaccoud arthropathy and acroosteolysis in KID syndrome
    • L.J. Leventhal P.C. Straka H.R. Schumacher Jaccoud arthropathy and acroosteolysis in KID syndrome J Rheumatol 16 1989 1274 1277
    • (1989) J Rheumatol , vol.16 , pp. 1274-1277
    • Leventhal, L.J.1    Straka, P.C.2    Schumacher, H.R.3
  • 38
    • 0001168164 scopus 로고
    • A familial disorder of uric acid metabolism and central nervous system function
    • M. Lesch W.L. Nyhan A familial disorder of uric acid metabolism and central nervous system function Am J Med 36 1964 561 570
    • (1964) Am J Med , vol.36 , pp. 561-570
    • Lesch, M.1    Nyhan, W.L.2
  • 39
    • 0015380053 scopus 로고
    • Clinical features of the Lesch-Nyhan syndrome
    • W.L. Nyhan Clinical features of the Lesch-Nyhan syndrome Arch Intern Med 130 1972 186 192
    • (1972) Arch Intern Med , vol.130 , pp. 186-192
    • Nyhan, W.L.1
  • 40
    • 0000623605 scopus 로고
    • Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: a clinical entity
    • C.U. Lowe M. Terrey E.A. MacLachlan Organic aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation: a clinical entity Am J Dis Child 83 1952 164 184
    • (1952) Am J Dis Child , vol.83 , pp. 164-184
    • Lowe, C.U.1    Terrey, M.2    MacLachlan, E.A.3
  • 42
    • 73649189052 scopus 로고
    • Urticaria, deafness and amyloidosis: A new heredo-familial syndrome
    • T.J. Muckle M. Wells Urticaria, deafness and amyloidosis: A new heredo-familial syndrome Q J Med 31 1962 235 248
    • (1962) Q J Med , vol.31 , pp. 235-248
    • Muckle, T.J.1    Wells, M.2
  • 43
    • 0028149351 scopus 로고
    • Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis and aphthosis in a four-generation family
    • J.M. Berthelot Y. Maugars N. Robillard Autosomal dominant Muckle-Wells syndrome associated with cystinuria, ichthyosis and aphthosis in a four-generation family Am J Med Genetics 53 1994 72 74
    • (1994) Am J Med Genetics , vol.53 , pp. 72-74
    • Berthelot, J.M.1    Maugars, Y.2    Robillard, N.3
  • 44
    • 0015688258 scopus 로고
    • Syndrome for diagnosis: Dwarfing, persistently open fontanelle; recurrent meningitis; recurrent subdural effusions with temporary alternate-sided hemiplegia; high tone deafness; visual defect with pseudopapilloedema; slowing intellectual development; recurrent acute polyarthritis, erythema marginatum; splenomegaly and iron-resistant hypochromic anemia
    • J. Lorber Syndrome for diagnosis: Dwarfing, persistently open fontanelle; recurrent meningitis; recurrent subdural effusions with temporary alternate-sided hemiplegia; high tone deafness; visual defect with pseudopapilloedema; slowing intellectual development; recurrent acute polyarthritis, erythema marginatum; splenomegaly and iron-resistant hypochromic anemia Proc Roy Soc Med 66 1973 1070 1071
    • (1973) Proc Roy Soc Med , vol.66 , pp. 1070-1071
    • Lorber, J.1
  • 45
    • 0029006759 scopus 로고
    • Neonatal onset multisystem inflammatory disease
    • A. Huttenlocher I.J. Frieden H. Emery Neonatal onset multisystem inflammatory disease J Rheumatol 22 1995 1171 1173
    • (1995) J Rheumatol , vol.22 , pp. 1171-1173
    • Huttenlocher, A.1    Frieden, I.J.2    Emery, H.3
  • 46
    • 21044456151 scopus 로고
    • Congenital absence or delayed development of the patella
    • E.M. Little Congenital absence or delayed development of the patella Lancet ii 1897 781 784
    • (1897) Lancet , vol.ii , pp. 781-784
    • Little, E.M.1
  • 47
    • 0025933248 scopus 로고
    • Nail patella syndrome: A review of 44 orthopaedic patients
    • K.J. Guidera Y. Satterwhite J.A. Ogden Nail patella syndrome: A review of 44 orthopaedic patients J Pediatr Orthoped 11 1991 737 742
    • (1991) J Pediatr Orthoped , vol.11 , pp. 737-742
    • Guidera, K.J.1    Satterwhite, Y.2    Ogden, J.A.3
  • 48
    • 0003100533 scopus 로고
    • The Philadelphia chromosome in an unusual case of myeloproliferative disease
    • Heath C.W. Jr W.C. Moloney The Philadelphia chromosome in an unusual case of myeloproliferative disease Blood 26 1965 471 478
    • (1965) Blood , vol.26 , pp. 471-478
    • Heath, C.W.1    Moloney, W.C.2
  • 50
    • 0028606375 scopus 로고
    • Hereditary arthro-ophthalmopathy (Stickler syndrome): A diagnosis to consider in familial premature osteoarthritis
    • A. Rai P. Wordsworth J.S. Coppock Hereditary arthro-ophthalmopathy (Stickler syndrome): A diagnosis to consider in familial premature osteoarthritis Br J Rheum 33 1994 1175 1180
    • (1994) Br J Rheum , vol.33 , pp. 1175-1180
    • Rai, A.1    Wordsworth, P.2    Coppock, J.S.3
  • 52
    • 0022624174 scopus 로고
    • The trichorhinophalangeal dysplasia syndrome: Report of eight kindreds, with emphasis on hip complications, late presentations, and premature osteoarthrosis
    • R. Cope R.K. Beals R.M. Bennett The trichorhinophalangeal dysplasia syndrome: Report of eight kindreds, with emphasis on hip complications, late presentations, and premature osteoarthrosis J Pediatr Orthop 6 1986 133 138
    • (1986) J Pediatr Orthop , vol.6 , pp. 133-138
    • Cope, R.1    Beals, R.K.2    Bennett, R.M.3
  • 53
    • 0015445631 scopus 로고
    • Rheumatoid arthritis in the 46XX 18-p syndrome
    • S.C. Finley W.H. Finley J.C. Johnson Rheumatoid arthritis in the 46XX 18-p syndrome Clin Genet 3 1972 465 469
    • (1972) Clin Genet , vol.3 , pp. 465-469
    • Finley, S.C.1    Finley, W.H.2    Johnson, J.C.3
  • 54
    • 0023263160 scopus 로고
    • Chronic arthritis in two children with partial deletion of chromosome 18
    • R.E. Petty P. Malleson D.K. Kalousek Chronic arthritis in two children with partial deletion of chromosome 18 J Rheumatol 14 1987 586 587
    • (1987) J Rheumatol , vol.14 , pp. 586-587
    • Petty, R.E.1    Malleson, P.2    Kalousek, D.K.3
  • 55
    • 0028072020 scopus 로고
    • Chronic arthritis in a boy with 18q-syndrome
    • U.S. Hansen T. Herlin Chronic arthritis in a boy with 18q-syndrome J Rheumatol 21 1994 1958 1959
    • (1994) J Rheumatol , vol.21 , pp. 1958-1959
    • Hansen, U.S.1    Herlin, T.2
  • 56
    • 0027312453 scopus 로고
    • Aarskog syndrome: A report of a family with review and discussion of nosology
    • A.S. Teebi J.K. Rucquoi M.S. Meyn Aarskog syndrome: A report of a family with review and discussion of nosology Am J Med Genetics 46 1993 501 509
    • (1993) Am J Med Genetics , vol.46 , pp. 501-509
    • Teebi, A.S.1    Rucquoi, J.K.2    Meyn, M.S.3
  • 57
    • 84970417385 scopus 로고
    • Spinal stenosis in achondroplasia
    • M.A. Nelson Spinal stenosis in achondroplasia Proc Roy Soc Med 65 1972 1028 1029
    • (1972) Proc Roy Soc Med , vol.65 , pp. 1028-1029
    • Nelson, M.A.1
  • 59
    • 85114545938 scopus 로고
    • Common syndromes with morphologic abnormalities
    • W.W. Tunnessen Common syndromes with morphologic abnormalities Oski F.A. Principles and Practice of Pediatrics 1990 JB Lippincott Philadelphia
    • (1990)
    • Tunnessen, W.W.1
  • 60
    • 0015371559 scopus 로고
    • The myopathic variety of arthogryposis multiplex congenita: A disorder with autosomal recessive inheritance
    • Der Kaloustian V.M. A.K. Afifi J. Mire The myopathic variety of arthogryposis multiplex congenita: A disorder with autosomal recessive inheritance J Pediatr 81 1972 76 82
    • (1972) J Pediatr , vol.81 , pp. 76-82
    • Der Kaloustian, V.M.1    Afifi, A.K.2    Mire, J.3
  • 61
    • 0015322684 scopus 로고
    • `New' syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896
    • F. Hecht R.K. Beals `New' syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896 Pediatrics 49 1972 574 579
    • (1972) Pediatrics , vol.49 , pp. 574-579
    • Hecht, F.1    Beals, R.K.2
  • 62
    • 0014561148 scopus 로고
    • Generalized gangliosidosis
    • J. O'Brien Generalized gangliosidosis J Pediatr 75 1969 167 186
    • (1969) J Pediatr , vol.75 , pp. 167-186
    • O'Brien, J.1
  • 63
    • 0023223349 scopus 로고
    • Deletion of 2p: A cytogenetic and clinical update
    • J. Neidich E. Zackai M. Aronson Deletion of 2p: A cytogenetic and clinical update Am J Med Genet 27 1987 707 710
    • (1987) Am J Med Genet , vol.27 , pp. 707-710
    • Neidich, J.1    Zackai, E.2    Aronson, M.3
  • 64
    • 0018611617 scopus 로고
    • X-linked dominant chondrodysplasia punctata: Review of the literature and report of a case
    • R. Happle X-linked dominant chondrodysplasia punctata: Review of the literature and report of a case Hum Genet 53 1979 65 73
    • (1979) Hum Genet , vol.53 , pp. 65-73
    • Happle, R.1
  • 65
    • 0027512188 scopus 로고
    • Cornelia de Lange syndrome: Photo essay
    • M. Ireland J. Burn Cornelia de Lange syndrome: Photo essay Clin Dysmorphol 2 1993 151 160
    • (1993) Clin Dysmorphol , vol.2 , pp. 151-160
    • Ireland, M.1    Burn, J.2
  • 67
    • 0027467750 scopus 로고
    • EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3)
    • S. Akita H. Kuratomi K. Abe EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3) Clin Dysmorphol 2 1993 62 67
    • (1993) Clin Dysmorphol , vol.2 , pp. 62-67
    • Akita, S.1    Kuratomi, H.2    Abe, K.3
  • 68
    • 0015808836 scopus 로고
    • Anderson-Fabry disease
    • H.J. Wallace Anderson-Fabry disease Br J Dermatol 88 1973 1 23
    • (1973) Br J Dermatol , vol.88 , pp. 1-23
    • Wallace, H.J.1
  • 69
    • 0021360797 scopus 로고
    • The Neu-COFS (cerebro-oculo-facial-skeletal) syndrome
    • The Neu-COFS (cerebro-oculo-facial-skeletal) syndrome Clin Genet 25 1984 201 206
    • (1984) Clin Genet , vol.25 , pp. 201-206
  • 71
    • 0026733546 scopus 로고
    • Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill-Marchesani syndromes
    • A. Verloes J.P. Hermia A. Galand Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill-Marchesani syndromes Am J Med Genet 44 1992 48 51
    • (1992) Am J Med Genet , vol.44 , pp. 48-51
    • Verloes, A.1    Hermia, J.P.2    Galand, A.3
  • 72
    • 0021894152 scopus 로고
    • The natural history of homocysteinuria due to cystathione beta synthatase deficiency
    • S.H. Mudd F. Skovby H.L. Levy The natural history of homocysteinuria due to cystathione beta synthatase deficiency Am J Hum Genet 37 1985 1 31
    • (1985) Am J Hum Genet , vol.37 , pp. 1-31
    • Mudd, S.H.1    Skovby, F.2    Levy, H.L.3
  • 73
    • 0013991053 scopus 로고
    • Clinical definition of the Hurler-Hunter phenotypes: A review of 50 patients
    • J.G. Leroy A.C. Crocker Clinical definition of the Hurler-Hunter phenotypes: A review of 50 patients Am J Dis Child 112 1966 518 530
    • (1966) Am J Dis Child , vol.112 , pp. 518-530
    • Leroy, J.G.1    Crocker, A.C.2
  • 74
    • 0022988638 scopus 로고
    • Mucopolysaccharidoses
    • J. Muenzer Mucopolysaccharidoses Adv Pediatr 33 1986 269 302
    • (1986) Adv Pediatr , vol.33 , pp. 269-302
    • Muenzer, J.1
  • 76
    • 0017279718 scopus 로고
    • Metaphysial dysostosis (Jansen type): Report of a case with long follow-up
    • S. Kikuchi M. Hasue M. Watanabe Metaphysial dysostosis (Jansen type): Report of a case with long follow-up J Bone Joint Surg Br 58 1976 102 106
    • (1976) J Bone Joint Surg Br , vol.58 , pp. 102-106
    • Kikuchi, S.1    Hasue, M.2    Watanabe, M.3
  • 77
    • 0027492792 scopus 로고
    • Spondylometaphyseal dysplasia (Kozlowski type): Case report
    • C.M. Guzman G.R. Aaron Spondylometaphyseal dysplasia (Kozlowski type): Case report Pediatr Dentistry 15 1993 49 52
    • (1993) Pediatr Dentistry , vol.15 , pp. 49-52
    • Guzman, C.M.1    Aaron, G.R.2
  • 78
    • 0025882417 scopus 로고
    • The spondylometaphyseal dysplasias: A tentative classification
    • P. Maroteau J. Spranger The spondylometaphyseal dysplasias: A tentative classification Pediatr Radiol 21 1991 293 297
    • (1991) Pediatr Radiol , vol.21 , pp. 293-297
    • Maroteau, P.1    Spranger, J.2
  • 79
    • 0019225175 scopus 로고
    • Leri's pleonosteosis
    • R.C. Hilton J. Wentzel Leri's pleonosteosis Q J Med 49 1980 419 429
    • (1980) Q J Med , vol.49 , pp. 419-429
    • Hilton, R.C.1    Wentzel, J.2
  • 80
    • 0014857633 scopus 로고
    • Dyschondrosteoses: Mesomelic dwarfism of Leri and Weill
    • A.H. Felman J.A. Kirkpatrick Dyschondrosteoses: Mesomelic dwarfism of Leri and Weill Am J Dis Child 120 1970 329 331
    • (1970) Am J Dis Child , vol.120 , pp. 329-331
    • Felman, A.H.1    Kirkpatrick, J.A.2
  • 82
    • 0027166260 scopus 로고
    • Marden-Walker syndrome: A case report and a critical review of the literature
    • M.S. Williams K.D. Josephson D.S. Wargowski Marden-Walker syndrome: A case report and a critical review of the literature Clin Dysmorphol 2 1993 211 219
    • (1993) Clin Dysmorphol , vol.2 , pp. 211-219
    • Williams, M.S.1    Josephson, K.D.2    Wargowski, D.S.3
  • 84
    • 0027417911 scopus 로고
    • Mucolipidosis III presenting as a rheumatologic disorder
    • R. Brik H. Mandel A. Aizin Mucolipidosis III presenting as a rheumatologic disorder J Rheumatol 20 1993 133 136
    • (1993) J Rheumatol , vol.20 , pp. 133-136
    • Brik, R.1    Mandel, H.2    Aizin, A.3
  • 85
    • 0025048729 scopus 로고
    • Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata
    • H.S. Eustis S.M. Yaplee M. Kogutt Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata J Pediatr Ophthal Strabismus 27 1990 237 241
    • (1990) J Pediatr Ophthal Strabismus , vol.27 , pp. 237-241
    • Eustis, H.S.1    Yaplee, S.M.2    Kogutt, M.3
  • 86
    • 0014842214 scopus 로고
    • Familial dysautonomia: A report of genetic and clinical studies with a review of the literature
    • P.W. Brunt V.A. McKusick Familial dysautonomia: A report of genetic and clinical studies with a review of the literature Medicine 49 1970 343 374
    • (1970) Medicine , vol.49 , pp. 343-374
    • Brunt, P.W.1    McKusick, V.A.2
  • 87
    • 0027433585 scopus 로고
    • Spondyloepimetaphyseal dysplasia: Clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature
    • A.C. Patel W.H. McAlister M.P. Whyte Spondyloepimetaphyseal dysplasia: Clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature Medicine 72 1993 326 342
    • (1993) Medicine , vol.72 , pp. 326-342
    • Patel, A.C.1    McAlister, W.H.2    Whyte, M.P.3
  • 88
    • 0025953839 scopus 로고
    • Schwartz-Jampel syndrome
    • R.M. Pascuzzi Schwartz-Jampel syndrome Semin Neurol 11 1991 267 273
    • (1991) Semin Neurol , vol.11 , pp. 267-273
    • Pascuzzi, R.M.1
  • 89
    • 0014085210 scopus 로고
    • Bird-headed dwarfs (Seckel's syndrome): A familial pattern of developmental, dental, skeletal, genital and central nervous system anomalies
    • R.G. Harper E. Orti R.K. Baker Bird-headed dwarfs (Seckel's syndrome): A familial pattern of developmental, dental, skeletal, genital and central nervous system anomalies J Pediatr 70 1967 799 804
    • (1967) J Pediatr , vol.70 , pp. 799-804
    • Harper, R.G.1    Orti, E.2    Baker, R.K.3
  • 90
    • 0014735194 scopus 로고
    • Spondyloepiphyseal dysplasia congenita
    • J.W. Spranger Langer L.O. Jr Spondyloepiphyseal dysplasia congenita Radiology 94 1970 313 322
    • (1970) Radiology , vol.94 , pp. 313-322
    • Spranger, J.W.1    Langer, L.O.2
  • 91
    • 0019920601 scopus 로고
    • Spondyloepiphyseal dysplasia tarda with progressive arthropathy
    • R. Wynne-Davis C. Hall B.M. Ansell Spondyloepiphyseal dysplasia tarda with progressive arthropathy J Bone Joint Surg Br 64 1982 442 445
    • (1982) J Bone Joint Surg Br , vol.64 , pp. 442-445
    • Wynne-Davis, R.1    Hall, C.2    Ansell, B.M.3
  • 92
    • 0023903203 scopus 로고
    • The trisomy (5)(q31-qter) syndrome: Study of a family with a t(5:14) translocation
    • A.C. Elias-Jones P. Habibi V.F. Larcher The trisomy (5)(q31-qter) syndrome: Study of a family with a t(5:14) translocation Arch Dis Child 63 1988 427 431
    • (1988) Arch Dis Child , vol.63 , pp. 427-431
    • Elias-Jones, A.C.1    Habibi, P.2    Larcher, V.F.3
  • 93
    • 0015314965 scopus 로고
    • Four patients with trisomy 8 identified by the fluorescence and giemsa-banding techniques
    • T. Caspersson J. Lindsten L. Zech Four patients with trisomy 8 identified by the fluorescence and giemsa-banding techniques J Med Genet 9 1972 1 7
    • (1972) J Med Genet , vol.9 , pp. 1-7
    • Caspersson, T.1    Lindsten, J.2    Zech, L.3
  • 94
    • 0015989659 scopus 로고
    • A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
    • D.D. Weaver C.B. Graham I.T. Thomas A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly J Pediatr 84 1974 547 552
    • (1974) J Pediatr , vol.84 , pp. 547-552
    • Weaver, D.D.1    Graham, C.B.2    Thomas, I.T.3
  • 95
    • 0025618307 scopus 로고
    • The Weill-Marchesani syndrome: Report of two cases and a review
    • G.M. Haik Sr Terrell W.L. Sr Haik G.M. Jr The Weill-Marchesani syndrome: Report of two cases and a review J Louisiana State Med Soc 142 1990 25 28 30–32
    • (1990) J Louisiana State Med Soc , vol.142 , pp. 25-28
    • Haik, G.M.1    Terrell, W.L.2    Haik, G.M.3
  • 96
    • 0016192927 scopus 로고
    • The Winchester syndrome: A nonlysosomal connective tissue disease
    • D.W. Hollister D.L. Rimoin R.S. Lachman The Winchester syndrome: A nonlysosomal connective tissue disease J Pediatr 84 1974 701 709
    • (1974) J Pediatr , vol.84 , pp. 701-709
    • Hollister, D.W.1    Rimoin, D.L.2    Lachman, R.S.3
  • 97
    • 0023899958 scopus 로고
    • History of the cerebrohepatoremal syndrome of Zellweger and other peroxisomal disorders
    • H. Zellweger P. Maertens D. Superneau History of the cerebrohepatoremal syndrome of Zellweger and other peroxisomal disorders Southern Med J 81 1988 357 364
    • (1988) Southern Med J , vol.81 , pp. 357-364
    • Zellweger, H.1    Maertens, P.2    Superneau, D.3
  • 98
    • 0015384319 scopus 로고
    • Mental retardation, abnormal fingers and skeletal anomalies. Coffin's syndrome
    • P.G. Procopis B. Turner Mental retardation, abnormal fingers and skeletal anomalies. Coffin's syndrome Am J Dis Child 124 1972 258 261
    • (1972) Am J Dis Child , vol.124 , pp. 258-261
    • Procopis, P.G.1    Turner, B.2
  • 100
    • 0015831045 scopus 로고
    • A new syndrome with hypotonia, obesity, mental deficiency and facial, oral, ocular and limb anomalies
    • Cohen M.M. Jr B.D. Hall D.W. Smith A new syndrome with hypotonia, obesity, mental deficiency and facial, oral, ocular and limb anomalies J Pediatr 83 1973 280 284
    • (1973) J Pediatr , vol.83 , pp. 280-284
    • Cohen, M.M.1    Hall, B.D.2    Smith, D.W.3
  • 101
    • 0027275544 scopus 로고
    • Further delineation of Costello syndrome
    • A.S. Teebi I.S. Shaabani Further delineation of Costello syndrome Am J Med Genetics 47 1993 166 168
    • (1993) Am J Med Genetics , vol.47 , pp. 166-168
    • Teebi, A.S.1    Shaabani, I.S.2
  • 102
    • 0015061638 scopus 로고
    • Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip
    • S.H. Reisner M. Seelenfreund M. Ben-Bassat Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip Acta Pediatr Scand 60 1971 357 360
    • (1971) Acta Pediatr Scand , vol.60 , pp. 357-360
    • Reisner, S.H.1    Seelenfreund, M.2    Ben-Bassat, M.3
  • 103
    • 0028938884 scopus 로고
    • Dubowitz syndrome: Long-term follow-up of an original patient
    • K.E. Hansen S.J. Kirkpatrick R. Laxova Dubowitz syndrome: Long-term follow-up of an original patient Am J Med Genetics 55 1995 161 164
    • (1995) Am J Med Genetics , vol.55 , pp. 161-164
    • Hansen, K.E.1    Kirkpatrick, S.J.2    Laxova, R.3
  • 104
    • 0019471241 scopus 로고
    • Ehlers-Danlos syndrome presenting as rheumatic manifestations in the child
    • T.G. Osborn J.R. Lichtenstein T.W. Moore Ehlers-Danlos syndrome presenting as rheumatic manifestations in the child J Rheumatol 8 1981 79 85
    • (1981) J Rheumatol , vol.8 , pp. 79-85
    • Osborn, T.G.1    Lichtenstein, J.R.2    Moore, T.W.3
  • 105
    • 0025349198 scopus 로고
    • Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis
    • Herscovici D. Jr J.R. Bowen Scott C.I. Jr Cervical instability as an unusual manifestation of Hajdu-Cheney syndrome of acroosteolysis Clin Orthopaed Related Research 255 1990 111 116
    • (1990) Clin Orthopaed Related Research , vol.255 , pp. 111-116
    • Herscovici, D.1    Bowen, J.R.2    Scott, C.I.3
  • 106
    • 0027480352 scopus 로고
    • Recurrent dislocation of the patella in Kabuki make-up syndrome
    • S. Ikegawa R. Sakaguchi M. Kimizuka Recurrent dislocation of the patella in Kabuki make-up syndrome J Pediatr Orthoped 13 1993 265 267
    • (1993) J Pediatr Orthoped , vol.13 , pp. 265-267
    • Ikegawa, S.1    Sakaguchi, R.2    Kimizuka, M.3
  • 107
    • 0027228360 scopus 로고
    • Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism
    • R. Petrella J.G. Rabinowitz B. Steinmann Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicism Am J Med Genet 47 1993 187 197
    • (1993) Am J Med Genet , vol.47 , pp. 187-197
    • Petrella, R.1    Rabinowitz, J.G.2    Steinmann, B.3
  • 108
    • 0026792966 scopus 로고
    • Heritable disorders of connective tissue and disability and chronic disease in childhood
    • L.B. Tucker Heritable disorders of connective tissue and disability and chronic disease in childhood Curr Opin Rheumatol 4 1992 731 740
    • (1992) Curr Opin Rheumatol , vol.4 , pp. 731-740
    • Tucker, L.B.1
  • 109
    • 0014966734 scopus 로고
    • Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia
    • S.E. Lux R.B. Johnston C.S. August Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia N Engl J Med 282 1970 231 236
    • (1970) N Engl J Med , vol.282 , pp. 231-236
    • Lux, S.E.1    Johnston, R.B.2    August, C.S.3
  • 111
    • 85114543961 scopus 로고
    • Beighton P. McKusick's Heritable Disorders of the Connective Tissue ed 5 1993 Mosby-Year Book St. Louis
    • (1993)
  • 112
    • 85114541556 scopus 로고
    • Buyse M.L. Birth Defects Encyclopedia 1990 Blackwell Scientific Publications Cambridge, MA
    • (1990)
  • 113
    • 85114536364 scopus 로고
    • Jones K.L. Recognizable Patterns of Human Malformations ed 4 1988 WB Saunders Philadelphia
    • (1988)
  • 114
    • 85114542394 scopus 로고
    • Thoene J.G. Physicians Guide to Rare Diseases ed 2 1995 Dowden Publishing Montvale, NJ
    • (1995)


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