-
1
-
-
0028226951
-
Autosomal recessive osteopetrosis in Arab children
-
Abdel-Al YK, Shabani IS, Lubani MM, al-Ghawabi MA, Ibrahim MD, al-Mohtasseb S, Duodin KI (1994): Autosomal recessive osteopetrosis in Arab children. Ann Tropical Paediatrics 14(1):59-64.
-
(1994)
Ann Tropical Paediatrics
, vol.14
, Issue.1
, pp. 59-64
-
-
Abdel-Al, Y.K.1
Shabani, I.S.2
Lubani, M.M.3
Al-Ghawabi, M.A.4
Ibrahim, M.D.5
Al-Mohtasseb, S.6
Duodin, K.I.7
-
2
-
-
0028325308
-
Neurological involvement in Worth type endosteal hyperostosis: Report of a family
-
Adès LC, Morris LL, Burns R, Haan EA (1994): Neurological involvement in Worth type endosteal hyperostosis: Report of a family. Am J Med Genet 51(1):46-50.
-
(1994)
Am J Med Genet
, vol.51
, Issue.1
, pp. 46-50
-
-
Adès, L.C.1
Morris, L.L.2
Burns, R.3
Haan, E.A.4
-
4
-
-
0023257443
-
Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity
-
Aleck KA, Grix A, Clericuzio C, Kaplan P, Adomian GE, Lachman R, Rimoin DL (1987): Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity. Am J Med Genet 27(2):295-312.
-
(1987)
Am J Med Genet
, vol.27
, Issue.2
, pp. 295-312
-
-
Aleck, K.A.1
Grix, A.2
Clericuzio, C.3
Kaplan, P.4
Adomian, G.E.5
Lachman, R.6
Rimoin, D.L.7
-
5
-
-
0020471304
-
Vascular involvement in cranial hyperostosis
-
Allen HA, Haney P, Rao KC (1982): Vascular involvement in cranial hyperostosis. AJNR 3:193-195.
-
(1982)
AJNR
, vol.3
, pp. 193-195
-
-
Allen, H.A.1
Haney, P.2
Rao, K.C.3
-
6
-
-
0020375673
-
Spondylometaepiphyseal dysplasia, Strudwick type
-
Anderson CE, Sillence DO, Lachman RS, Toomey K, Bull M, Dorst J, Rimoin DL (1982): Spondylometaepiphyseal dysplasia, Strudwick type. Am J Med Genet 13:243-256.
-
(1982)
Am J Med Genet
, vol.13
, pp. 243-256
-
-
Anderson, C.E.1
Sillence, D.O.2
Lachman, R.S.3
Toomey, K.4
Bull, M.5
Dorst, J.6
Rimoin, D.L.7
-
7
-
-
0027249013
-
Multifocal necrotizing leukoencephalopathy with pontine predilection in immunosuppressed patients
-
Andres KH, Becker PS, Holden JK, Sharer LR, Cornford ME, Hansen LA, Hamilton R, Vinters HV (1993): Multifocal necrotizing leukoencephalopathy with pontine predilection in immunosuppressed patients. Hum Pathol 24:897-904.
-
(1993)
Hum Pathol
, vol.24
, pp. 897-904
-
-
Andres, K.H.1
Becker, P.S.2
Holden, J.K.3
Sharer, L.R.4
Cornford, M.E.5
Hansen, L.A.6
Hamilton, R.7
Vinters, H.V.8
-
8
-
-
0025734771
-
MRI of multiple cranial neuropathies in a patient with Camurati-Engelmann disease: Case report
-
Applegate LJ, Applegate GR, Kemp SS (1991): MRI of multiple cranial neuropathies in a patient with Camurati-Engelmann disease: Case report. AJNR 12:557-559.
-
(1991)
AJNR
, vol.12
, pp. 557-559
-
-
Applegate, L.J.1
Applegate, G.R.2
Kemp, S.S.3
-
10
-
-
0025126601
-
Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia
-
Aryanpur J, Hurko O, Francomano C, Wang H, Carson B (1990): Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. J Neurosurg 73:375-382.
-
(1990)
J Neurosurg
, vol.73
, pp. 375-382
-
-
Aryanpur, J.1
Hurko, O.2
Francomano, C.3
Wang, H.4
Carson, B.5
-
12
-
-
0024405128
-
Cranial CT of autosomal recessive osteopetrosis
-
Bartynski WS, Barnes PD, Wassman JK (1989): Cranial CT of autosomal recessive osteopetrosis. AJNR 10:543-550.
-
(1989)
AJNR
, vol.10
, pp. 543-550
-
-
Bartynski, W.S.1
Barnes, P.D.2
Wassman, J.K.3
-
13
-
-
0027157678
-
Facial nerve dysfunction in osteopetrosis
-
Benecke JE, Jr (1993): Facial nerve dysfunction in osteopetrosis. Laryngoscope 103:494-497.
-
(1993)
Laryngoscope
, vol.103
, pp. 494-497
-
-
Benecke Jr., J.E.1
-
14
-
-
0026729852
-
Lethal short limb dwarfism with dysmorphic face, omphalocele, and severe ossification defect: Piepkorn syndrome or severe boomerang dysplasia?
-
Canki-Klain N, Stanescu V, Stanescu R, Sinkovec J, Debevec M, Maroteaux P (1992): Lethal short limb dwarfism with dysmorphic face, omphalocele, and severe ossification defect: Piepkorn syndrome or severe boomerang dysplasia? Ann Génét 35:129-133.
-
(1992)
Ann Génét
, vol.35
, pp. 129-133
-
-
Canki-Klain, N.1
Stanescu, V.2
Stanescu, R.3
Sinkovec, J.4
Debevec, M.5
Maroteaux, P.6
-
15
-
-
0027771906
-
Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta
-
Charnas LR, Marini JC (1993): Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta. Neurol 43:2603-2608.
-
(1993)
Neurol
, vol.43
, pp. 2603-2608
-
-
Charnas, L.R.1
Marini, J.C.2
-
17
-
-
0026664516
-
Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment and mental retardation: Nosology of dysosteosclerosis
-
Chitayat D, Silver K, Azouz EM (1992): Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment and mental retardation: Nosology of dysosteosclerosis. Am J Med Genet 43: 517-523.
-
(1992)
Am J Med Genet
, vol.43
, pp. 517-523
-
-
Chitayat, D.1
Silver, K.2
Azouz, E.M.3
-
18
-
-
0027225492
-
New findings in short rib syndromes
-
Cideciyan D, Rodriguez MM, Haun RL, Abdenour GE, Bruce JH (1993): New findings in short rib syndromes. Am J Med Genet 46: 255-259.
-
(1993)
Am J Med Genet
, vol.46
, pp. 255-259
-
-
Cideciyan, D.1
Rodriguez, M.M.2
Haun, R.L.3
Abdenour, G.E.4
Bruce, J.H.5
-
19
-
-
0024586122
-
Spinal abnormalities in campomelic dysplasia
-
Coscia MF, Bassett GS, Bowen JR, Ogilvie JW, Winter RB, Simonton SC (1989): Spinal abnormalities in campomelic dysplasia. J Pediatr Orthop 9:6-14.
-
(1989)
J Pediatr Orthop
, vol.9
, pp. 6-14
-
-
Coscia, M.F.1
Bassett, G.S.2
Bowen, J.R.3
Ogilvie, J.W.4
Winter, R.B.5
Simonton, S.C.6
-
21
-
-
0024452717
-
2) in three children including one with pyknodysostosis
-
2) in three children including one with pyknodysostosis. Pediatr Radiol 19:535-538.
-
(1989)
Pediatr Radiol
, vol.19
, pp. 535-538
-
-
Currarino, G.1
-
22
-
-
0025778915
-
Cranial osteopetrosis: MR findings
-
Demirci A, Sze G (1991): Cranial osteopetrosis: MR findings. AJNR 12:781-782.
-
(1991)
AJNR
, vol.12
, pp. 781-782
-
-
Demirci, A.1
Sze, G.2
-
23
-
-
0023091779
-
Cleidocranial dysostosis and syringomyelia
-
Dore DD, MacEwen GD, Boulos MI (1987): Cleidocranial dysostosis and syringomyelia. Clin Orthop 214:229-234.
-
(1987)
Clin Orthop
, vol.214
, pp. 229-234
-
-
Dore, D.D.1
MacEwen, G.D.2
Boulos, M.I.3
-
24
-
-
0025035416
-
The fallopian canal and facial nerve in sclerosteosis of the temporal bone
-
Dort JC, Pollak A, Fisch U (1990): The fallopian canal and facial nerve in sclerosteosis of the temporal bone. Am J Otol 11:320-325.
-
(1990)
Am J Otol
, vol.11
, pp. 320-325
-
-
Dort, J.C.1
Pollak, A.2
Fisch, U.3
-
25
-
-
0027469826
-
Sclerosteosis: Neurosurgical experience with fourteen cases
-
du Plessis JJ (1993): Sclerosteosis: Neurosurgical experience with fourteen cases. J Neurosurg 78:388-392.
-
(1993)
J Neurosurg
, vol.78
, pp. 388-392
-
-
Du Plessis, J.J.1
-
27
-
-
0021342349
-
Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)
-
Ellis DS, Heckenlively JR, Martin CL, Lachman RS, Sakati NA, Rimoin DL (1984): Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). Am J Ophthal 97(2): 233-239.
-
(1984)
Am J Ophthal
, vol.97
, Issue.2
, pp. 233-239
-
-
Ellis, D.S.1
Heckenlively, J.R.2
Martin, C.L.3
Lachman, R.S.4
Sakati, N.A.5
Rimoin, D.L.6
-
28
-
-
0026604087
-
Cranial imaging in autosomal recessive osteopetrosis: Part I, II
-
Elster AD, Theros EG, Key LL, Chen MY (1992): Cranial imaging in autosomal recessive osteopetrosis: part I, II. Radiol 183:129-135.
-
(1992)
Radiol
, vol.183
, pp. 129-135
-
-
Elster, A.D.1
Theros, E.G.2
Key, L.L.3
Chen, M.Y.4
-
29
-
-
0024326892
-
Porencephalic cyst in pycnodysostosis
-
Figueiredo J, Reis A, Vaz R, Leao M, Cruz C (1989): Porencephalic cyst in pycnodysostosis. J Med Genet 26(12):782-784.
-
(1989)
J Med Genet
, vol.26
, Issue.12
, pp. 782-784
-
-
Figueiredo, J.1
Reis, A.2
Vaz, R.3
Leao, M.4
Cruz, C.5
-
31
-
-
0024396796
-
Narrowing of thoraco-lumbar spinal canal in achondroplasia
-
Fortuna A, Ferrate L, Acqui M, Santoro A, Mastronardi L (1989): Narrowing of thoraco-lumbar spinal canal in achondroplasia. J Neurosurg Sci 33:185.
-
(1989)
J Neurosurg Sci
, vol.33
, pp. 185
-
-
Fortuna, A.1
Ferrate, L.2
Acqui, M.3
Santoro, A.4
Mastronardi, L.5
-
32
-
-
0023866818
-
Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease
-
Fryns JP, Van den Berghe H (1988): Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease. Eur J Pediatr 147:99-100.
-
(1988)
Eur J Pediatr
, vol.147
, pp. 99-100
-
-
Fryns, J.P.1
Van Den Berghe, H.2
-
33
-
-
0028220265
-
Osteopathia striata with cranial sclerosis
-
Gay BB, Jr., Elsas LJ, Wyly JB, Pasquali M (1994): Osteopathia striata with cranial sclerosis. Pediatr Radiol 24:56-60.
-
(1994)
Pediatr Radiol
, vol.24
, pp. 56-60
-
-
Gay Jr., B.B.1
Elsas, L.J.2
Wyly, J.B.3
Pasquali, M.4
-
34
-
-
0025128065
-
Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis
-
Goodman P, Dominguez R (1990): Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis. Magn Reson Imaging 8:647-650.
-
(1990)
Magn Reson Imaging
, vol.8
, pp. 647-650
-
-
Goodman, P.1
Dominguez, R.2
-
35
-
-
0024909066
-
Paraplegia resulting from thoracolumbar stenosis in a seven-month-old achondroplastic dwarf
-
Hahn YS, Engelhard HH 3d, Naidich T, McLpne DG (1989): Paraplegia resulting from thoracolumbar stenosis in a seven-month-old achondroplastic dwarf. Pediatr Neurosci 15:39-13.
-
(1989)
Pediatr Neurosci
, vol.15
, pp. 39-113
-
-
Hahn, Y.S.1
Engelhard III, H.H.2
Naidich, T.3
McLpne, D.G.4
-
36
-
-
0027435687
-
Acrodysostosis associated with spinal canal stenosis
-
Hamanishi C (1993): Acrodysostosis associated with spinal canal stenosis. Spine 18:1922.
-
(1993)
Spine
, vol.18
, pp. 1922
-
-
Hamanishi, C.1
-
37
-
-
0025295275
-
Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion
-
Hamers A, Jongbloet P, Peeters G, Fryns JP, Geraedts J (1990): Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion. Eur J Pediatr 149:618-620.
-
(1990)
Eur J Pediatr
, vol.149
, pp. 618-620
-
-
Hamers, A.1
Jongbloet, P.2
Peeters, G.3
Fryns, J.P.4
Geraedts, J.5
-
38
-
-
0024328884
-
Growth of the foramen magnum in achondroplasia
-
Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R (1989): Growth of the foramen magnum in achondroplasia. Am J Med Genet 32:528-535.
-
(1989)
Am J Med Genet
, vol.32
, pp. 528-535
-
-
Hecht, J.T.1
Horton, W.A.2
Reid, C.S.3
Pyeritz, R.E.4
Chakraborty, R.5
-
39
-
-
0021967228
-
Computerized tomography of the foramen magnum: Achondroplastic, values compared to normal standards
-
Hecht JT, Nelson FW, Butler IJ, Horton WA, Scott CI Jr, Wassman ER, Mehringer CM, Rimoin DL, Pauli RM (1985): Computerized tomography of the foramen magnum: Achondroplastic, values compared to normal standards. Am J Med Genet 20:355-360.
-
(1985)
Am J Med Genet
, vol.20
, pp. 355-360
-
-
Hecht, J.T.1
Nelson, F.W.2
Butler, I.J.3
Horton, W.A.4
Scott Jr., C.I.5
Wassman, E.R.6
Mehringer, C.M.7
Rimoin, D.L.8
Pauli, R.M.9
-
40
-
-
0022545440
-
Cranial CT findings in sclerosteosis
-
Hill SC, Stein SA, Dwyer A, Altman J, Dorwart R, Doppman J (1986): Cranial CT findings in sclerosteosis. AJNR 7:505-511.
-
(1986)
AJNR
, vol.7
, pp. 505-511
-
-
Hill, S.C.1
Stein, S.A.2
Dwyer, A.3
Altman, J.4
Dorwart, R.5
Doppman, J.6
-
41
-
-
0023255372
-
Craniometaphyseal dysplasia associated with hydrocephalus: Case report
-
Hudgins RJ, Edwards MS (1987): Craniometaphyseal dysplasia associated with hydrocephalus: Case report. Neurosurgery 29:617-618.
-
(1987)
Neurosurgery
, vol.29
, pp. 617-618
-
-
Hudgins, R.J.1
Edwards, M.S.2
-
42
-
-
0020028013
-
The clinical spectrum of lumbar spine disease in achondroplasia
-
Kahanovitz N, Rimoin DL, Sillence DO (1982): The clinical spectrum of lumbar spine disease in achondroplasia. Spine 7:137-140.
-
(1982)
Spine
, vol.7
, pp. 137-140
-
-
Kahanovitz, N.1
Rimoin, D.L.2
Sillence, D.O.3
-
44
-
-
0017576264
-
The craniotubular bone modeling disorders: A neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression
-
Kirkpatrick DB, Rimoin DL, Kaitila I, Goodman SJ (1977): The craniotubular bone modeling disorders: A neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression. Surg Neurol 7:221-232.
-
(1977)
Surg Neurol
, vol.7
, pp. 221-232
-
-
Kirkpatrick, D.B.1
Rimoin, D.L.2
Kaitila, I.3
Goodman, S.J.4
-
45
-
-
0022658361
-
A case of van Buchem's disease with multiple cranial neuropathy
-
Kitagawa Y, Hirose G, Kosoegawa H, Kanda S, Hamada S (1986): A case of van Buchem's disease with multiple cranial neuropathy. Rinsho Shinkeigaku 26:28-33.
-
(1986)
Rinsho Shinkeigaku
, vol.26
, pp. 28-33
-
-
Kitagawa, Y.1
Hirose, G.2
Kosoegawa, H.3
Kanda, S.4
Hamada, S.5
-
46
-
-
0023204325
-
Cervical kyphosis in diastrophic dwarfism: CT and MR findings
-
Krecak J, Starshak RJ (1987): Cervical kyphosis in diastrophic dwarfism: CT and MR findings. Pediatr Radiol. 17:321-322.
-
(1987)
Pediatr Radiol.
, vol.17
, pp. 321-322
-
-
Krecak, J.1
Starshak, R.J.2
-
47
-
-
0019409104
-
Diastrophic dysplasia: The death of a variant
-
Lachman R, Sillence D, Rimoin D, Horton W, Hall J, Scott C, Spranger J, Langer L (1981): Diastrophic dysplasia: The death of a variant. Radiology 140:79-86.
-
(1981)
Radiology
, vol.140
, pp. 79-86
-
-
Lachman, R.1
Sillence, D.2
Rimoin, D.3
Horton, W.4
Hall, J.5
Scott, C.6
Spranger, J.7
Langer, L.8
-
48
-
-
0025736142
-
Stabilization of the cervical spine in spondyloepiphyseal dysplasia congenita
-
LeDoux MS, Naftalis RC, Aronin PA (1991): Stabilization of the cervical spine in spondyloepiphyseal dysplasia congenita. Neurosurgery 28:580-583.
-
(1991)
Neurosurgery
, vol.28
, pp. 580-583
-
-
Ledoux, M.S.1
Naftalis, R.C.2
Aronin, P.A.3
-
49
-
-
0027496536
-
The mucopolysaccharidoses: Characterization by cranial MR imaging
-
Lee C, Dineen TE, Brack M, Kirsch JE, Runge VM (1993): The mucopolysaccharidoses: Characterization by cranial MR imaging. AJNR 14:1285-1292.
-
(1993)
AJNR
, vol.14
, pp. 1285-1292
-
-
Lee, C.1
Dineen, T.E.2
Brack, M.3
Kirsch, J.E.4
Runge, V.M.5
-
50
-
-
34249921840
-
Rhizomelic chondrodysplasia punctate: 16-year follow-up of a child from birth
-
Lenti C, Paganoni P, Sangermani R (1991): Rhizomelic chondrodysplasia punctate: 16-year follow-up of a child from birth. Italian J Neurol Sci 12(5):469-473.
-
(1991)
Italian J Neurol Sci
, vol.12
, Issue.5
, pp. 469-473
-
-
Lenti, C.1
Paganoni, P.2
Sangermani, R.3
-
51
-
-
0025309089
-
Hydrocephalus in an achondroplastic child treated by venous decompression at the jugular foramen
-
Lundar T, Bakke SJ, Nornes H (1990) Hydrocephalus in an achondroplastic child treated by venous decompression at the jugular foramen. J Neurosurg 73:138-140.
-
(1990)
J Neurosurg
, vol.73
, pp. 138-140
-
-
Lundar, T.1
Bakke, S.J.2
Nornes, H.3
-
52
-
-
0025325916
-
Apneustic breathing: A characteristic feature of brain stem compression in achondroplasia?
-
Mador MJ, Tobin MJ (1990): Apneustic breathing: A characteristic feature of brain stem compression in achondroplasia? Chest 97: 877-883.
-
(1990)
Chest
, vol.97
, pp. 877-883
-
-
Mador, M.J.1
Tobin, M.J.2
-
53
-
-
0023475110
-
Focal pontine leukoencephalopathy in a patient with Shwachman-Diamond syndrome
-
Mah V, Nelson L, Vinters HV (1987): Focal pontine leukoencephalopathy in a patient with Shwachman-Diamond syndrome. Can J Neurol Sci 14:608-610.
-
(1987)
Can J Neurol Sci
, vol.14
, pp. 608-610
-
-
Mah, V.1
Nelson, L.2
Vinters, H.V.3
-
54
-
-
0027454440
-
Short rib polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies
-
Martínez-Frías ML, Bermejo E, Urioste M, Egues J, Lopez Soler JA (1993): Short rib polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies. Am J Med Genet 47:782-787.
-
(1993)
Am J Med Genet
, vol.47
, pp. 782-787
-
-
Martínez-Frías, M.L.1
Bermejo, E.2
Urioste, M.3
Egues, J.4
Lopez Soler, J.A.5
-
55
-
-
0021150690
-
Brain tumor and achondroplasia: A case report and review of the literature
-
McArdle DQ, Sawaya R, Rhodadad G (1984): Brain tumor and achondroplasia: A case report and review of the literature. Neurosurgery 15:111-113.
-
(1984)
Neurosurgery
, vol.15
, pp. 111-113
-
-
McArdle, D.Q.1
Sawaya, R.2
Rhodadad, G.3
-
56
-
-
0023115356
-
Case report: Myelopathy secondary to congenital osteopetrosis of the cervical spine
-
McCleary L, Rovit RL, Murali R (1987): Case report: Myelopathy secondary to congenital osteopetrosis of the cervical spine. Neurosurgery 20:487-489.
-
(1987)
Neurosurgery
, vol.20
, pp. 487-489
-
-
McCleary, L.1
Rovit, R.L.2
Murali, R.3
-
57
-
-
0024600777
-
Occipitoatlantal instability in a child with Kniest syndrome
-
Merrill KD, Schmidt TL (1989): Occipitoatlantal instability in a child with Kniest syndrome. J Pediatr Orthop 9:338-340.
-
(1989)
J Pediatr Orthop
, vol.9
, pp. 338-340
-
-
Merrill, K.D.1
Schmidt, T.L.2
-
58
-
-
0024792356
-
MR imaging of the brain in patients with mucopolysaccharidosis
-
Murata R, Nakajima S, Tanaka A, Miyagi N, Matsuoka O, Kogame S, Inoue Y (1989): MR imaging of the brain in patients with mucopolysaccharidosis. AJNR 10:1165-1170.
-
(1989)
AJNR
, vol.10
, pp. 1165-1170
-
-
Murata, R.1
Nakajima, S.2
Tanaka, A.3
Miyagi, N.4
Matsuoka, O.5
Kogame, S.6
Inoue, Y.7
-
59
-
-
0028003721
-
Imaging of spinal osteochondroma of neurologic nature
-
N'dri K, Lapra-Lepine C, Colonna C, Tavernier T, Bochu M (1994): Imaging of spinal osteochondroma of neurologic nature. J Radiologie 75 (8-9):427-431.
-
(1994)
J Radiologie
, vol.75
, Issue.89
, pp. 427-431
-
-
N'Dri, K.1
Lapra-Lepine, C.2
Colonna, C.3
Tavernier, T.4
Bochu, M.5
-
60
-
-
0028198739
-
Maflucci's syndrome associated with intracranial chordoma
-
Nakayama Y, Takeno Y, Tsugu H, Tomonaga M (1994): Maflucci's syndrome associated with intracranial chordoma. Neurosurg 34: 907-909.
-
(1994)
Neurosurg
, vol.34
, pp. 907-909
-
-
Nakayama, Y.1
Takeno, Y.2
Tsugu, H.3
Tomonaga, M.4
-
61
-
-
0023853473
-
Clinical findings in 12 patients with MPS IV a (Morquio's disease): Further evidence for heterogeneity. Part III: Odontoid dysplasia
-
Nelson J, Broadhead D, Mossman J (1988): Clinical findings in 12 patients with MPS IV A (Morquio's disease): Further evidence for heterogeneity. Part III: Odontoid dysplasia. Clin Genet 33: 111-120.
-
(1988)
Clin Genet
, vol.33
, pp. 111-120
-
-
Nelson, J.1
Broadhead, D.2
Mossman, J.3
-
62
-
-
0026562106
-
Unusual occurrence of cervical myelopathy in a case of Stickler's syndrome
-
Noel S, Bakeriaux D, Telerman-Toppet N (1992): Unusual occurrence of cervical myelopathy in a case of Stickler's syndrome. J Med Genet 29:200-202.
-
(1992)
J Med Genet
, vol.29
, pp. 200-202
-
-
Noel, S.1
Bakeriaux, D.2
Telerman-Toppet, N.3
-
63
-
-
0028318998
-
Intracanalicular osteochondroma producing spinal cord compression in hereditary multiple exostoses
-
O'Brien MF, Bridwell KH, Lenke LG, Schoenecker PL (1994): Intracanalicular osteochondroma producing spinal cord compression in hereditary multiple exostoses. J Spinal Disorders 7(3):236-241.
-
(1994)
J Spinal Disorders
, vol.7
, Issue.3
, pp. 236-241
-
-
O'Brien, M.F.1
Bridwell, K.H.2
Lenke, L.G.3
Schoenecker, P.L.4
-
64
-
-
0028435772
-
Otolaryngological aspects of Camurati-Engelmann disease (progressive diaphyseal dysplasia): Review of literature and report of one case
-
Paludetti G, Galli A, Lombardi R, Almadori G, Pujolas FX, Maurizi M. (1994): Otolaryngological aspects of Camurati-Engelmann disease (progressive diaphyseal dysplasia): Review of literature and report of one case. Acta Otorrinolaringologica Espanola, 45(3):207-213.
-
(1994)
Acta Otorrinolaringologica Espanola
, vol.45
, Issue.3
, pp. 207-213
-
-
Paludetti, G.1
Galli, A.2
Lombardi, R.3
Almadori, G.4
Pujolas, F.X.5
Maurizi, M.6
-
65
-
-
0017089215
-
Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities
-
Popovic-Rolovic M, Calic-Perisic N, Bunjevacki G, Negovanovic D (1976): Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities. Arch Disease in Childhood 51(10):801-803.
-
(1976)
Arch Disease in Childhood
, vol.51
, Issue.10
, pp. 801-803
-
-
Popovic-Rolovic, M.1
Calic-Perisic, N.2
Bunjevacki, G.3
Negovanovic, D.4
-
66
-
-
0022637460
-
Upper cervical cord compression as cause of death in osteogenesis imperfecta type 2
-
Pauli RM, Gilbert EF (1986): Upper cervical cord compression as cause of death in osteogenesis imperfecta type 2. J Pediatr 108: 579-581.
-
(1986)
J Pediatr
, vol.108
, pp. 579-581
-
-
Pauli, R.M.1
Gilbert, E.F.2
-
67
-
-
0028957869
-
Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia
-
Pauli RM, Horton VK, Glinski LP, Reiser CA (1995): Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Human Genet 56(3):732-744.
-
(1995)
Am J Human Genet
, vol.56
, Issue.3
, pp. 732-744
-
-
Pauli, R.M.1
Horton, V.K.2
Glinski, L.P.3
Reiser, C.A.4
-
68
-
-
0021362896
-
Apnea and sudden unexpected death in infants with achondroplasia
-
Pauli RM, Scott CI, Wassmas ER Jr, Gilbert EF, Leavitt LA, Ver Hoeve J, Hall JG, Partington MW, Jones KL, Sommer A, et al (1984): Apnea and sudden unexpected death in infants with achondroplasia. J Pediatri 104:342.
-
(1984)
J Pediatri
, vol.104
, pp. 342
-
-
Pauli, R.M.1
Scott, C.I.2
Wassmas Jr., E.R.3
Gilbert, E.F.4
Leavitt, L.A.5
Ver Hoeve, J.6
Hall, J.G.7
Partington, M.W.8
Jones, K.L.9
Sommer, A.10
-
71
-
-
0022485640
-
Adult-type osteopetrosis presenting as carpal tunnel syndrome
-
Rakic M, Elhosseiny A, Ramadan F, Iyer R, Howard RG, Gross L (1986): Adult-type osteopetrosis presenting as carpal tunnel syndrome. Arthritis Rheum 29:926-928.
-
(1986)
Arthritis Rheum
, vol.29
, pp. 926-928
-
-
Rakic, M.1
Elhosseiny, A.2
Ramadan, F.3
Iyer, R.4
Howard, R.G.5
Gross, L.6
-
72
-
-
0027475729
-
Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defects
-
Ramer JC, Eggli K, Rogan PK, Laadda RL (1993): Identical twins with Weissenbacher-Zweymuller syndrome and neural tube defects. Am J Med Genet 45:614-618.
-
(1993)
Am J Med Genet
, vol.45
, pp. 614-618
-
-
Ramer, J.C.1
Eggli, K.2
Rogan, P.K.3
Laadda, R.L.4
-
73
-
-
0028031351
-
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability
-
Reardon W, Hall CM, Shaw DG, Kendall B, Hayward R, Winter RM (1994): New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability. Am J Med Genet 52(4):432-437.
-
(1994)
Am J Med Genet
, vol.52
, Issue.4
, pp. 432-437
-
-
Reardon, W.1
Hall, C.M.2
Shaw, D.G.3
Kendall, B.4
Hayward, R.5
Winter, R.M.6
-
74
-
-
0023156987
-
Cervicomedullary compression in young patients with achondroplasia
-
Reid CS, Pyeritz RE, Kopits SE, Maria BL, Wang H, McPherson RW, Hurko O, Phillips JA 3d, Rosenbaum AE (1987): Cervicomedullary compression in young patients with achondroplasia. J Pediatr 110:522-530.
-
(1987)
J Pediatr
, vol.110
, pp. 522-530
-
-
Reid, C.S.1
Pyeritz, R.E.2
Kopits, S.E.3
Maria, B.L.4
Wang, H.5
McPherson, R.W.6
Hurko, O.7
Phillips III, J.A.8
Rosenbaum, A.E.9
-
75
-
-
0025777989
-
Atlanto-axial instability in diastrophic dysplasia
-
Richards BS (1991): Atlanto-axial instability in diastrophic dysplasia. JBJS 73A:614-616.
-
(1991)
JBJS
, vol.73 A
, pp. 614-616
-
-
Richards, B.S.1
-
76
-
-
0027968861
-
Maffucci's syndrome - The result of neural abnormalities?
-
Robinson D, Tieder M, Halperin M, Burshtein D, Nevo Z (1994): Maffucci's syndrome - the result of neural abnormalities? Cancer 74:949-957.
-
(1994)
Cancer
, vol.74
, pp. 949-957
-
-
Robinson, D.1
Tieder, M.2
Halperin, M.3
Burshtein, D.4
Nevo, Z.5
-
77
-
-
0022625885
-
A new hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna
-
Rosenberg E, Lohr H (1986): A new hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna. Eur J Pediatr 145:40-45.
-
(1986)
Eur J Pediatr
, vol.145
, pp. 40-45
-
-
Rosenberg, E.1
Lohr, H.2
-
78
-
-
0021238959
-
Hangman's fracture in a patient with osteogenesis imperfecta
-
Rush GA, Burke SW (1984): Hangman's fracture in a patient with osteogenesis imperfecta. JBJS 66A:778-779.
-
(1984)
JBJS
, vol.66 A
, pp. 778-779
-
-
Rush, G.A.1
Burke, S.W.2
-
79
-
-
0016206165
-
Cranial metaphyseal dysplasia: A cause of recurrent bilateral facial palsy
-
Saper JR Holt JF (1974): Cranial metaphyseal dysplasia: A cause of recurrent bilateral facial palsy. Arch Neurol 31:204-207.
-
(1974)
Arch Neurol
, vol.31
, pp. 204-207
-
-
Saper, J.R.1
Holt, J.F.2
-
80
-
-
0028242070
-
Hydrocephalus and pseudotumour cerebri in the mucopolysaccharidoses
-
Sheridan M, Johnston I (1994): Hydrocephalus and pseudotumour cerebri in the mucopolysaccharidoses. Child's Nerv Syst 10: 148-150.
-
(1994)
Child's Nerv Syst
, vol.10
, pp. 148-150
-
-
Sheridan, M.1
Johnston, I.2
-
81
-
-
0024501851
-
Odontoid hypoplasia, cervical spine subluxation and hydrocephalus in metatropic dysplasia
-
Shohat M, Lachman R, Rimoin DL (1989): Odontoid hypoplasia, cervical spine subluxation and hydrocephalus in metatropic dysplasia. J Pediatr 114:239-243.
-
(1989)
J Pediatr
, vol.114
, pp. 239-243
-
-
Shohat, M.1
Lachman, R.2
Rimoin, D.L.3
-
82
-
-
0028006883
-
Craniocervical abnormalities in osteogenesis imperfecta
-
Sillence DO (1994): Craniocervical abnormalities in osteogenesis imperfecta. Pediatr Radiol 24:427-430.
-
(1994)
Pediatr Radiol
, vol.24
, pp. 427-430
-
-
Sillence, D.O.1
-
83
-
-
0023866950
-
Hydrocephalus in asphyxiating thoracic dystrophy
-
Singh M, Ray D, Paul VK, Kumar A (1988): Hydrocephalus in asphyxiating thoracic dystrophy. Am J Med Genet 29:391-395.
-
(1988)
Am J Med Genet
, vol.29
, pp. 391-395
-
-
Singh, M.1
Ray, D.2
Paul, V.K.3
Kumar, A.4
-
84
-
-
0017186468
-
Heterogeneity of Dyggre-Melchior-Clausendwarfism
-
Spranger JW, Bierbaum B, Herrmann J (1976): Heterogeneity of Dyggre-Melchior-Clausendwarfism. Hum Genet 33:279-287.
-
(1976)
Hum Genet
, vol.33
, pp. 279-287
-
-
Spranger, J.W.1
Bierbaum, B.2
Herrmann, J.3
-
85
-
-
0024347941
-
Hydrocephalus in achondroplasia: The possible role of intracranial venous hypertension
-
Steinbok P, Hall J, Flodmark O (1989): Hydrocephalus in achondroplasia: The possible role of intracranial venous hypertension. J Neurosurg 71:42-48.
-
(1989)
J Neurosurg
, vol.71
, pp. 42-48
-
-
Steinbok, P.1
Hall, J.2
Flodmark, O.3
-
86
-
-
0021873461
-
Central pontine myelinolysis in a child with Shwachman-Diamond syndrome
-
Steinsapir KD, Vinters HV (1985): Central pontine myelinolysis in a child with Shwachman-Diamond syndrome. Hum Pathol 16: 741-743.
-
(1985)
Hum Pathol
, vol.16
, pp. 741-743
-
-
Steinsapir, K.D.1
Vinters, H.V.2
-
87
-
-
0025833041
-
The odontoid process in Morquio-Brailsford's disease: The effects of occipitocervical fusion
-
Br
-
Stevens JM, Kendall BE, Crockard HA, Ransford A (1991): The odontoid process in Morquio-Brailsford's disease: The effects of occipitocervical fusion. J Bone Joint Surg (Br) 73B:851-858.
-
(1991)
J Bone Joint Surg
, vol.73 B
, pp. 851-858
-
-
Stevens, J.M.1
Kendall, B.E.2
Crockard, H.A.3
Ransford, A.4
-
88
-
-
0027454528
-
Mucopolysaccharidosis: Thickening of dura mater at the craniocervical junction and other CT/MRI findings
-
Taccone A Tortori Donati P, Marzoli A, Dell'Acqua A, Gatti R, Leone D (1993): Mucopolysaccharidosis: Thickening of dura mater at the craniocervical junction and other CT/MRI findings. Pediatr Radiol 23:349-452.
-
(1993)
Pediatr Radiol
, vol.23
, pp. 349-452
-
-
Taccone, A.1
Tortori Donati, P.2
Marzoli, A.3
Dell'Acqua, A.4
Gatti, R.5
Leone, D.6
-
90
-
-
0021847230
-
Hypoplasia of the odontoid with atlanto-axial subluxation in Hurler's syndrome
-
Thomas SL, Childress MH, Quinton B (1985): Hypoplasia of the odontoid with atlanto-axial subluxation in Hurler's syndrome. Pediatr Radiol 15:353.
-
(1985)
Pediatr Radiol
, vol.15
, pp. 353
-
-
Thomas, S.L.1
Childress, M.H.2
Quinton, B.3
-
91
-
-
0025233909
-
Asphyxiating thoracic dysplasia with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy Walker malformation
-
Trabelsi M, Hammpu-Jeddi A, Kammoun A, Bennaceur B, Gharbi HA (1990): Asphyxiating thoracic dysplasia with hepatic ductal hypoplasia, agenesis of the corpus callosum and Dandy Walker malformation. Pédiatrie 45:35-38.
-
(1990)
Pédiatrie
, vol.45
, pp. 35-38
-
-
Trabelsi, M.1
Hammpu-Jeddi, A.2
Kammoun, A.3
Bennaceur, B.4
Gharbi, H.A.5
-
92
-
-
0022650007
-
Neurologic correlates of osteogenesis imperfecta
-
Tsipouras P, Barabas G, Matthews WS (1986): Neurologic correlates of osteogenesis imperfecta. Arch Neurol 43:150-152.
-
(1986)
Arch Neurol
, vol.43
, pp. 150-152
-
-
Tsipouras, P.1
Barabas, G.2
Matthews, W.S.3
-
93
-
-
0027293862
-
Breathing abnormalities in sleep in achondroplasia
-
Waters KA, Everett F, Sillence D, Fagan E, Sullivan CE (1993): Breathing abnormalities in sleep in achondroplasia. Arch Dis Childh 69:191-196.
-
(1993)
Arch Dis Childh
, vol.69
, pp. 191-196
-
-
Waters, K.A.1
Everett, F.2
Sillence, D.3
Fagan, E.4
Sullivan, C.E.5
-
94
-
-
0020032131
-
Lumbar spinal canal stenosis in osteopoikilosis
-
Weisz GM (1982): Lumbar spinal canal stenosis in osteopoikilosis. Clin Orthop 166:89-92.
-
(1982)
Clin Orthop
, vol.166
, pp. 89-92
-
-
Weisz, G.M.1
-
95
-
-
0028013411
-
Spinal cord injury rehabilitation in a pediatric achondroplastic patient: Case report
-
Wieting JM, Krach LE (1994): Spinal cord injury rehabilitation in a pediatric achondroplastic patient: Case report. Arch Physical Medicine and Rehabilitation 75(1):106-108.
-
(1994)
Arch Physical Medicine and Rehabilitation
, vol.75
, Issue.1
, pp. 106-108
-
-
Wieting, J.M.1
Krach, L.E.2
-
96
-
-
0025242963
-
Cerebrovascular occlusive complications in osteopetrosis major
-
Wilms G, Casaer P, Alliet P, Demaerel P, Smet M, Baert AL (1990): Cerebrovascular occlusive complications in osteopetrosis major. Neuroradiol 32:511-513.
-
(1990)
Neuroradiol
, vol.32
, pp. 511-513
-
-
Wilms, G.1
Casaer, P.2
Alliet, P.3
Demaerel, P.4
Smet, M.5
Baert, A.L.6
-
97
-
-
0025070905
-
Carpal tunnel syndrome in the mucopolysaccharidoses
-
Wraith JE, Alani SM (1990): Carpal tunnel syndrome in the mucopolysaccharidoses. Arch Dis Child 65:962-963.
-
(1990)
Arch Dis Child
, vol.65
, pp. 962-963
-
-
Wraith, J.E.1
Alani, S.M.2
-
98
-
-
0023338228
-
Anesthesia for patients with spondyloepiphyseal dysplasia congenita
-
Yagi Y, Yamazaki M, Satone T (1987): Anesthesia for patients with spondyloepiphyseal dysplasia congenita. Masui 36:793-796.
-
(1987)
Masui
, vol.36
, pp. 793-796
-
-
Yagi, Y.1
Yamazaki, M.2
Satone, T.3
-
100
-
-
0028871257
-
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: A variant of Lowry-Wood syndrome?
-
Yamamoto T, Tohyama J, Koeda T, Maegaki Y, Takahashi Y (1995): Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: A variant of Lowry-Wood syndrome? Am J Med Genet 56(1):6-9.
-
(1995)
Am J Med Genet
, vol.56
, Issue.1
, pp. 6-9
-
-
Yamamoto, T.1
Tohyama, J.2
Koeda, T.3
Maegaki, Y.4
Takahashi, Y.5
-
101
-
-
0028362479
-
A case of motor and sensory neuropathy associated with metatropic dysplasia
-
Yamashita S, Izawa T, Misugi N, Sasaki Y (1994): A case of motor and sensory neuropathy associated with metatropic dysplasia. No To Hattatsu Brain and Development 26(3):258-262.
-
(1994)
No to Hattatsu Brain and Development
, vol.26
, Issue.3
, pp. 258-262
-
-
Yamashita, S.1
Izawa, T.2
Misugi, N.3
Sasaki, Y.4
-
102
-
-
0018948827
-
Compressive myelopathy in Maroteaux-Lamy syndrome: Clinical and pathological findings
-
Young R, Kleinman G, Ojemann RG, Kolodny E, Davis K, Halperin J, Zalneraitis E, DeLong GR (1980): Compressive myelopathy in Maroteaux-Lamy syndrome: Clinical and pathological findings. Ann Neurol 8:336-340.
-
(1980)
Ann Neurol
, vol.8
, pp. 336-340
-
-
Young, R.1
Kleinman, G.2
Ojemann, R.G.3
Kolodny, E.4
Davis, K.5
Halperin, J.6
Zalneraitis, E.7
Delong, G.R.8
-
103
-
-
0017620560
-
A unique chondrodysplasia secondary to a defect in chondroosseous transformation
-
Zonana J, Rimoin DL, Lachman RS, Cohen AH (1977): A unique chondrodysplasia secondary to a defect in chondroosseous transformation. Birth Defects Original Article Series 13(3D):155-163.
-
(1977)
Birth Defects Original Article Series
, vol.13
, Issue.3 D
, pp. 155-163
-
-
Zonana, J.1
Rimoin, D.L.2
Lachman, R.S.3
Cohen, A.H.4
|