-
1
-
-
0028133454
-
Diagnosis and management of skeletal dysplasias
-
Baker ER, Goldberg MJ. 1994. Diagnosis and management of skeletal dysplasias. Semin Perinatol 18:283-291.
-
(1994)
Semin Perinatol
, vol.18
, pp. 283-291
-
-
Baker, E.R.1
Goldberg, M.J.2
-
2
-
-
0026016149
-
Mild fetal lateral cerebral ventriculomegaly: Clinical course and outcome
-
Bromley B, Frigoletto FD Jr, Benacerraf B. 1991. Mild fetal lateral cerebral ventriculomegaly: Clinical course and outcome. Am J Obstet Gynecol 164:863-867.
-
(1991)
Am J Obstet Gynecol
, vol.164
, pp. 863-867
-
-
Bromley, B.1
Frigoletto F.D., Jr.2
Benacerraf, B.3
-
3
-
-
0023678442
-
Prenatal ultrasonographic diagnosis of osteogenesis imperfecta
-
Brons JT, van der Harten HJ, Wladimiroff JW, van Geijn HP, et al. 1988. Prenatal ultrasonographic diagnosis of osteogenesis imperfecta. Am J Obstet Gynecol 159:176-181.
-
(1988)
Am J Obstet Gynecol
, vol.159
, pp. 176-181
-
-
Brons, J.T.1
Van der Harten, H.J.2
Wladimiroff, J.W.3
Van Geijn, H.P.4
-
4
-
-
0031971563
-
Kyphomelic dysplasia in two sib fetuses
-
Chen CP, Chern SR, Shih SL, Chuang CY, Huang FY. 1998. Kyphomelic dysplasia in two sib fetuses. J Med Genet 35:65-69.
-
(1998)
J Med Genet
, vol.35
, pp. 65-69
-
-
Chen, C.P.1
Chern, S.R.2
Shih, S.L.3
Chuang, C.Y.4
Huang, F.Y.5
-
6
-
-
0029072162
-
Association of kyphomelic dysplasia with severe combined immunodeficiency
-
Corder WT, Hummel M, Miller C, Wilson NW. 1995. Association of kyphomelic dysplasia with severe combined immunodeficiency. Am J Med Genet 57:626-629.
-
(1995)
Am J Med Genet
, vol.57
, pp. 626-629
-
-
Corder, W.T.1
Hummel, M.2
Miller, C.3
Wilson, N.W.4
-
7
-
-
84878775645
-
Femoral hypoplasia-Unusual facies syndrome
-
Daentl DL, Smith DW, Scott CI, Hall BD, Gooding CA. 1975. Femoral hypoplasia-Unusual facies syndrome. J Pediatr 86:107-111.
-
(1975)
J Pediatr
, vol.86
, pp. 107-111
-
-
Daentl, D.L.1
Smith, D.W.2
Scott, C.I.3
Hall, B.D.4
Gooding, C.A.5
-
8
-
-
0031977218
-
Prenatal sonographic diagnosis of skeletal dysplasias - A report of the diagnostic and prognostic accuracy in 35 cases
-
Gaffney G, Manning N, Boyd PA, Rai V, Gould S, Chamberlain P. 1998. Prenatal sonographic diagnosis of skeletal dysplasias-A report of the diagnostic and prognostic accuracy in 35 cases. Prenat Diagn 18:357-362.
-
(1998)
Prenat Diagn
, vol.18
, pp. 357-362
-
-
Gaffney, G.1
Manning, N.2
Boyd, P.A.3
Rai, V.4
Gould, S.5
Chamberlain, P.6
-
9
-
-
0035706767
-
Prenatal diagnosis of kyphomelic dysplasia
-
Guala A, Biroli E, Bassini P, Botta G, Licata D, Di Cara G, Fraceschini D, Fraceschini P. 2001. Prenatal diagnosis of kyphomelic dysplasia. Prenat Diagn 21:1146-1149.
-
(2001)
Prenat Diagn
, vol.21
, pp. 1146-1149
-
-
Guala, A.1
Biroli, E.2
Bassini, P.3
Botta, G.4
Licata, D.5
Di Cara, G.6
Fraceschini, D.7
Fraceschini, P.8
-
10
-
-
0018361564
-
Familial congenital bowing with short bones
-
Hall BD, Spranger JW. 1979. Familial congenital bowing with short bones. Radiology 132:611-614.
-
(1979)
Radiology
, vol.132
, pp. 611-614
-
-
Hall, B.D.1
Spranger, J.W.2
-
11
-
-
0018841899
-
Campomelic dysplasia: Further elucidation of a distinct entity
-
Hall BD, Spranger JW. 1980. Campomelic dysplasia: Further elucidation of a distinct entity. Am J Dis Child 134:285-289.
-
(1980)
Am J Dis Child
, vol.134
, pp. 285-289
-
-
Hall, B.D.1
Spranger, J.W.2
-
12
-
-
0020511169
-
Femoral hypoplasia-Unusual facies syndrome in infants of diabetic mothers
-
Johnson JP, Carey JC, Gooch WM 3rd, Petersen J, Beattie JF. 1983. Femoral hypoplasia-Unusual facies syndrome in infants of diabetic mothers. J Pediatr 102:866-872.
-
(1983)
J Pediatr
, vol.102
, pp. 866-872
-
-
Johnson, J.P.1
Carey, J.C.2
Gooch W.M. III3
Petersen, J.4
Beattie, J.F.5
-
13
-
-
0017125928
-
Heterogeneity in the campomelic syndromes: Long and short bone varieties
-
Khajavi A, Lachman RS, Rimoin D, et al. 1976. Heterogeneity in the campomelic syndromes: Long and short bone varieties. Radiology 120:641-647.
-
(1976)
Radiology
, vol.120
, pp. 641-647
-
-
Khajavi, A.1
Lachman, R.S.2
Rimoin, D.3
-
14
-
-
0020661609
-
Brief Clinical Report: Skeletal dysplasia with short angulated femora (kyphomelic dysplasia)
-
Maclean RN, Prater WK, Lozzio CB. 1983. Brief Clinical Report: Skeletal dysplasia with short angulated femora (kyphomelic dysplasia). Am J Med Genet 14:373-380.
-
(1983)
Am J Med Genet
, vol.14
, pp. 373-380
-
-
Maclean, R.N.1
Prater, W.K.2
Lozzio, C.B.3
-
15
-
-
0027523841
-
Long-term follow up of a case of kyphomelic dysplasia
-
Maffulli N, Blakeway C, Fixsen JA. 1993. Long-term follow up of a case of kyphomelic dysplasia. Orthopedics 16:86-89.
-
(1993)
Orthopedics
, vol.16
, pp. 86-89
-
-
Maffulli, N.1
Blakeway, C.2
Fixsen, J.A.3
-
16
-
-
0033615461
-
Mild autosomal dominant hypophosphatasia: In utero presentation in two families
-
Moore CA, Curry CJ, Henthorn PS, Smith JA, et al. 1999. Mild autosomal dominant hypophosphatasia: In utero presentation in two families. Am J Med Genet 86:410-415.
-
(1999)
Am J Med Genet
, vol.86
, pp. 410-415
-
-
Moore, C.A.1
Curry, C.J.2
Henthorn, P.S.3
Smith, J.A.4
-
17
-
-
0030922464
-
The scapula as a window to the diagnosis of skeletal dysplasias
-
Mortier GR, Rimoin DL, Lachman RS. 1997. The scapula as a window to the diagnosis of skeletal dysplasias. Pediatr Radiol 27:447-451.
-
(1997)
Pediatr Radiol
, vol.27
, pp. 447-451
-
-
Mortier, G.R.1
Rimoin, D.L.2
Lachman, R.S.3
-
19
-
-
0033615462
-
Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken
-
Pauli RM, Modaff P, Sipes SL, Whyte MP. 1999. Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: Bent but not broken. Am J Med Genet 86:434-438.
-
(1999)
Am J Med Genet
, vol.86
, pp. 434-438
-
-
Pauli, R.M.1
Modaff, P.2
Sipes, S.L.3
Whyte, M.P.4
-
20
-
-
0022729738
-
Kyphomelic dysplasia versus femoral hypoplasia-Unusual facies syndrome
-
Pitt D. 1986. Kyphomelic dysplasia versus femoral hypoplasia-Unusual facies syndrome. Am J Med Genet 24:365-366.
-
(1986)
Am J Med Genet
, vol.24
, pp. 365-366
-
-
Pitt, D.1
-
21
-
-
0032843653
-
Kyphomelic dysplasia: Clinical and radiologic follow-up of one case and review of the literature
-
Pollotta R, Ehresmann T, Roggini M, Fusilli P. 1999. Kyphomelic dysplasia: Clinical and radiologic follow-up of one case and review of the literature. Radiology 212:847-852.
-
(1999)
Radiology
, vol.212
, pp. 847-852
-
-
Pollotta, R.1
Ehresmann, T.2
Roggini, M.3
Fusilli, P.4
-
22
-
-
0033671159
-
Kyphomelic dysplasia: A rare form of semilethal skeletal dysplasia
-
Prasad C, Cramer BC, Pushpanathan C, Crowley MC, Ives EJ. 2000. Kyphomelic dysplasia: A rare form of semilethal skeletal dysplasia. Clin Genet 58:390-395.
-
(2000)
Clin Genet
, vol.58
, pp. 390-395
-
-
Prasad, C.1
Cramer, B.C.2
Pushpanathan, C.3
Crowley, M.C.4
Ives, E.J.5
-
23
-
-
0021258772
-
Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity
-
Rezza E, Iannaccone G, Lendvai D. 1984. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Pediatr Radiol 14:323-327.
-
(1984)
Pediatr Radiol
, vol.14
, pp. 323-327
-
-
Rezza, E.1
Iannaccone, G.2
Lendvai, D.3
-
24
-
-
0020321950
-
Prenatal ultrasound detection of humeroradial synostosis in a case of Antley-Bixler syndrome
-
Savoldelli G, Schinzel LA. 1982. Prenatal ultrasound detection of humeroradial synostosis in a case of Antley-Bixler syndrome. Prenat Diagn 2:219-223.
-
(1982)
Prenat Diagn
, vol.2
, pp. 219-223
-
-
Savoldelli, G.1
Schinzel, L.A.2
-
26
-
-
0034597369
-
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease
-
Spranger J, Hall BD, Häne B, Srivastava A, Stevenson RE. 2000. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Am J Med Genet 94:287-295.
-
(2000)
Am J Med Genet
, vol.94
, pp. 287-295
-
-
Spranger, J.1
Hall, B.D.2
Häne, B.3
Srivastava, A.4
Stevenson, R.E.5
-
27
-
-
0025392480
-
Prenatal sonographic evaluation of short-limbed dwarfism: An algorithmic approach
-
Sprit BA, Oliphant M, Gottlieb RH, Gordon LP. 1990. Prenatal sonographic evaluation of short-limbed dwarfism: An algorithmic approach. Radiographics 10:217-236.
-
(1990)
Radiographics
, vol.10
, pp. 217-236
-
-
Sprit, B.A.1
Oliphant, M.2
Gottlieb, R.H.3
Gordon, L.P.4
-
29
-
-
0024346046
-
Kyphomelic dysplasia
-
Temple IK, Thompson EM, Hall CM, Bridgeman G, Pembrey ME. 1989. Kyphomelic dysplasia. J Med Genet 26:457-468.
-
(1989)
J Med Genet
, vol.26
, pp. 457-468
-
-
Temple, I.K.1
Thompson, E.M.2
Hall, C.M.3
Bridgeman, G.4
Pembrey, M.E.5
-
30
-
-
0027393783
-
Non-invasive prenatal diagnosis of osteogenesis imperfecta
-
Thompson EM. 1993. Non-invasive prenatal diagnosis of osteogenesis imperfecta. Am J Med Genet 45:201-206.
-
(1993)
Am J Med Genet
, vol.45
, pp. 201-206
-
-
Thompson, E.M.1
-
32
-
-
0008272240
-
Kyphomelic dysplasia: Further delineation of the phenotype
-
Viljoen D, Beighton P. 1988. Kyphomelic dysplasia: Further delineation of the phenotype. Dysmorphol Clin Genet 1:136-141.
-
(1988)
Dysmorphol Clin Genet
, vol.1
, pp. 136-141
-
-
Viljoen, D.1
Beighton, P.2
|