SCOPUS 정보 검색 플랫폼

European Journal of Pediatrics

Volumn 155, Issue 4, 1996, Pages 311-314

Acromicric dysplasia and geleophysic dysplasia: Similarities and differences

(3) Hennekam, Raoul C M a Van Bever, Yolande a Oorthuys, Johanna W E a

a UNIVERSITY OF AMSTERDAM (Netherlands)

Author keywords

Acromicric dysplasia; Dwarfism; Geleophysic dysplasia; Moore Federman syndrome; Storage disease

Indexed keywords

ACROMICRIC DYSPLASIA; ADOLESCENT; AORTA VALVE REGURGITATION; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DYSPLASIA; FACIAL EXPRESSION; FEMALE; GELEOPHYSIC DYSPLASIA; GENETIC COUNSELING; GROWTH RETARDATION; HUMAN; MITRAL VALVE REGURGITATION; MOORE FEDERMAN SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; STORAGE DISEASE; SYNDROME DELINEATION;

EID: 0029968117 PISSN: 03406199 EISSN: None Source Type: Journal
DOI: 10.1007/BF02002719 Document Type: Article

Times cited : (20)

References (11)

1
- 0027475499
- Reviving the Moore-Federman syndrome
- Fell JME, Stanhope R (1993) Reviving the Moore-Federman syndrome. J Royal Soc Med 86:52-53
- (1993) J Royal Soc Med , vol.86 , pp. 52-53
- Fell, J.M.E.¹ Stanhope, R.²

2
- 0021686010
- Familial recurrence of geleophysic dysplasia
- Koiffmann CP, Wajntal A, Ursich MJM, Pupo AA (1984) Familial recurrence of geleophysic dysplasia. Am J Med Genet 19:483-486
- (1984) Am J Med Genet , vol.19 , pp. 483-486
- Koiffmann, C.P.¹ Wajntal, A.² Ursich, M.J.M.³ Pupo, A.A.⁴

3
- 0023513193
- Geleophysic dysplasia - Acromicric dysplasia with evidence of glycoprotein storage
- Lipson AH, Kan AE, Kozlowski K (1989) Geleophysic dysplasia - acromicric dysplasia with evidence of glycoprotein storage. Am J Med Genet [Suppl] 3:181-189
- (1989) Am J Med Genet [Suppl] , vol.3 , pp. 181-189
- Lipson, A.H.¹ Kan, A.E.² Kozlowski, K.³

4
- 0022546239
- Acromicric dysplasia
- Maroteaux P, Stanescu R, Stanescu V, Rappaport R (1986) Acromicric dysplasia. Am J Med Genet 24:447-459
- (1986) Am J Med Genet , vol.24 , pp. 447-459
- Maroteaux, P.¹ Stanescu, R.² Stanescu, V.³ Rappaport, R.⁴

5
- 0000648562
- Familial dwarfism and "stiff joints"
- Moore WT, Federman DD (1965) Familial dwarfism and "stiff joints". Arch Intern Med 115:398-404
- (1965) Arch Intern Med , vol.115 , pp. 398-404
- Moore, W.T.¹ Federman, D.D.²

6
- 0025336522
- Geleophysic dysplasia: A storage disorder affecting the skin, bone, liver, heart, and trachea
- Shohat M, Gruber HE, Pagon RA, Witcoff LJ, Lachman R, Ferry D, Flaum E, Rimoin DL (1990) Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. J Pediatr 117:227-232
- (1990) J Pediatr , vol.117 , pp. 227-232
- Shohat, M.¹ Gruber, H.E.² Pagon, R.A.³ Witcoff, L.J.⁴ Lachman, R.⁵ Ferry, D.⁶ Flaum, E.⁷ Rimoin, D.L.⁸

7
- 0015218203
- Geleophysic dwarfism: A 'focal' mucopolysaccharidosis?
- Spranger J, Gilbert EF, Tuffli GA, Rossiter FP, Opitz JM (1971) Geleophysic dwarfism: a 'focal' mucopolysaccharidosis? Lancet II:97-98
- (1971) Lancet , vol.2 , pp. 97-98
- Spranger, J.¹ Gilbert, E.F.² Tuffli, G.A.³ Rossiter, F.P.⁴ Opitz, J.M.⁵

8
- 0021684354
- Geleophysic dysplasia
- Spranger J, Gilbert EF, Aray S, Hoganson GMI, Opitz JM (1984a) Geleophysic dysplasia. Am J Med Genet 19: 487-499
- (1984) Am J Med Genet , vol.19 , pp. 487-499
- Spranger, J.¹ Gilbert, E.F.² Aray, S.³ Hoganson, G.M.I.⁴ Opitz, J.M.⁵

9
- 0021686745
- Acrofacial dysplasia resembling geleophysic dysplasia
- Spranger J, Gilbert EF, Flatz S, Burdelski M, Kallfelz HC (1984b) Acrofacial dysplasia resembling geleophysic dysplasia. Am J Med Genet 19: 501-506
- (1984) Am J Med Genet , vol.19 , pp. 501-506
- Spranger, J.¹ Gilbert, E.F.² Flatz, S.³ Burdelski, M.⁴ Kallfelz, H.C.⁵

10
- 0345222808
- Mitral stenosis in an atypical case of gargoylism
- Vanace PW, Friedman S, Wagner BM (1960) Mitral stenosis in an atypical case of gargoylism. Circulation 21:80-89
- (1960) Circulation , vol.21 , pp. 80-89
- Vanace, P.W.¹ Friedman, S.² Wagner, B.M.³

11
- 0024511708
- Moore-Federman syndrome and acromicric dysplasia: Are they the same entity?
- Winter RM, Patton MA, Challener J, Mueller RF, Baraitser M (1989) Moore-Federman syndrome and acromicric dysplasia: are they the same entity? J Med Genet 26:320-325
- (1989) J Med Genet , vol.26 , pp. 320-325
- Winter, R.M.¹ Patton, M.A.² Challener, J.³ Mueller, R.F.⁴ Baraitser, M.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.