메뉴 건너뛰기




Volumn 13, Issue 4, 2002, Pages 465-473

Dysmorphic face in two siblings with infantile neuroaxonal dystrophy

Author keywords

Autosomal recessive inheritance; Congenital malformation; Dysmorphic face; INAD; Neuroaxonal dystrophy; Neurogenetic disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL COORDINATION DISORDER; FACE DYSMORPHIA; FEMALE; FOREHEAD; HEARING DISORDER; HUMAN; LARGE EAR; MALE; MICROGNATHIA; MOUTH MALFORMATION; NEUROAXONAL DYSTROPHY; PHENOTYPE; SHORT NOSE; SPEECH DISORDER; STRABISMUS; VISUAL DISORDER;

EID: 0036944069     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (22)

References (24)
  • 1
    • 0018629882 scopus 로고
    • Infantile neuroaxonal dystrophy
    • AICARDI J., CASTELEIN P.: Infantile neuroaxonal dystrophy. Brain, 1979, 102, 727-729.
    • (1979) Brain , vol.102 , pp. 727-729
    • Aicardi, J.1    Castelein, P.2
  • 3
    • 0024524745 scopus 로고
    • Early cerebellar degeneration in twins infantile neuroaxonal dystrophy
    • BARLOW J.K., SIMS K.B., KOLODNY E.H.: Early cerebellar degeneration in twins infantile neuroaxonal dystrophy. Ann. Neurol., 1989, 25, 413-415.
    • (1989) Ann. Neurol. , vol.25 , pp. 413-415
    • Barlow, J.K.1    Sims, K.B.2    Kolodny, E.H.3
  • 4
    • 0017966980 scopus 로고
    • Juvenile Neuroaxonal Dystrophy: Clinical, pathologic and histochemical findings in a family with 3 affected siblings
    • DORFMAN L.J., PEDLEY TA., THARP B.R., SCHEITHAVER B.W.: Juvenile Neuroaxonal Dystrophy: Clinical, pathologic and histochemical findings in a family with 3 affected siblings. Ann. Neurol., 1978, 3, 419-428.
    • (1978) Ann. Neurol. , vol.3 , pp. 419-428
    • Dorfman, L.J.1    Pedley, T.A.2    Tharp, B.R.3    Scheithaver, B.W.4
  • 5
    • 0014864185 scopus 로고
    • Peripheral nerve biopsy as an aid to diagnosis in an infantile neuroaxonal dystrophy
    • DUNCAN C., STRUB R., MCGARRY P., DUNCAN D.: Peripheral nerve biopsy as an aid to diagnosis in an infantile neuroaxonal dystrophy. Neurology, 1970, 20, 1024-1032.
    • (1970) Neurology , vol.20 , pp. 1024-1032
    • Duncan, C.1    Strub, R.2    Mcgarry, P.3    Duncan, D.4
  • 6
    • 0020624414 scopus 로고
    • New enzymatic findings in infantile neuroaxonal dystrophy
    • ELLEDER M., JIRASEK A.: New enzymatic findings in infantile neuroaxonal dystrophy. Acta Neuropathol. (Berl.), 1983, 60, 153-155.
    • (1983) Acta Neuropathol. (Berl.) , vol.60 , pp. 153-155
    • Elleder, M.1    Jirasek, A.2
  • 11
    • 0023641039 scopus 로고
    • Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course
    • HUNTER A.G.W., JIMENEZ C.L., CARPENTER B.F., MACDONALD I.: Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course. Am. J. Med. Genet., 1987, 28, 171-180.
    • (1987) Am. J. Med. Genet. , vol.28 , pp. 171-180
    • Hunter, A.G.W.1    Jimenez, C.L.2    Carpenter, B.F.3    Macdonald, I.4
  • 12
    • 0014163946 scopus 로고
    • Infantile Neuroaxonal dystrophy: Clinical pathologic, and histochemical findings in a family with 3 affected siblings
    • HUTTENLOCHER P.R., GILLES EH.: Infantile Neuroaxonal dystrophy: clinical pathologic, and histochemical findings in a family with 3 affected siblings. Neurology, 1967, 117, 1174-1178.
    • (1967) Neurology , vol.117 , pp. 1174-1178
    • Huttenlocher, P.R.1    Gilles, E.H.2
  • 13
    • 0033821994 scopus 로고    scopus 로고
    • Infantile neuroaxonal dystrophy and giant, axonal neuropathy-overlap diseases of neuronal cytoskelatal elements in childhood
    • MAHADEVAN A., SANTOSH V., GAYATRI N., RATNAVALLI E., NANDAGOPAL R., VASANTH A., ROY A. K., SHANKAR S.K.: Infantile neuroaxonal dystrophy and giant, axonal neuropathy-overlap diseases of neuronal cytoskelatal elements in childhood. Clin. Neuropathol., 2000, 19 (5), 221-229.
    • (2000) Clin. Neuropathol. , vol.19 , Issue.5 , pp. 221-229
    • Mahadevan, A.1    Santosh, V.2    Gayatri, N.3    Ratnavalli, E.4    Nandagopal, R.5    Vasanth, A.6    Roy, A.K.7    Shankar, S.K.8
  • 16
    • 0026009519 scopus 로고
    • Infantile Neuroaxonal dystrophy: Diagnosis by skin biopsy
    • OZMEN M., ÇALJŞKAN M., GOEBEL H., APAK S.: Infantile Neuroaxonal dystrophy: Diagnosis by skin biopsy. Brain Dev., 1991, 13, 256-259.
    • (1991) Brain Dev. , vol.13 , pp. 256-259
    • Ozmen, M.1    Çaljşkan, M.2    Goebel, H.3    Apak, S.4
  • 17
    • 0001732834 scopus 로고
    • Systemic axonal dystrophy in vitamin E deficient adult rats, with implication in human neuropathology
    • PENTSCHEW A., SCHWARZ K.: Systemic axonal dystrophy in vitamin E deficient adult rats, with implication in human neuropathology. Acta Neuropathol., 1962, 1, 313-314.
    • (1962) Acta Neuropathol. , vol.1 , pp. 313-314
    • Pentschew, A.1    Schwarz, K.2
  • 19
    • 0011820596 scopus 로고
    • Neurological conditions related to neuroaxonal dystrophy
    • SEITELBERGER F.: Neurological conditions related to neuroaxonal dystrophy. Acta Neuropathol. (Berl.) Suppl., 1971, 5, 17-29.
    • (1971) Acta Neuropathol. (Berl.) Suppl. , vol.5 , pp. 17-29
    • Seitelberger, F.1
  • 20
    • 0018897698 scopus 로고
    • Axonal dystrophy in the graceless nucleus in congenital bleary atresia and cystic fibrosis: Beneficial effects of vitamin E therapy
    • SUNG J.H., PARKS. H., MASTRI A.H., WARWICK W.J.: Axonal dystrophy in the graceless nucleus in congenital bleary atresia and cystic fibrosis: beneficial effects of vitamin E therapy. J. Neuropathol. Exp. Neurol., 1980, 39, 584-597.
    • (1980) J. Neuropathol. Exp. Neurol. , vol.39 , pp. 584-597
    • Sung, J.H.1    Parks, H.2    Mastri, A.H.3    Warwick, W.J.4
  • 21
    • 0034838767 scopus 로고    scopus 로고
    • Hallervorden-Spatz syndrome
    • SWAIMAN K.F.: Hallervorden-Spatz syndrome. Pediatr. Neurol., 2001, 25 (2), 102-108.
    • (2001) Pediatr. Neurol. , vol.25 , Issue.2 , pp. 102-108
    • Swaiman, K.F.1
  • 24
    • 0017680466 scopus 로고
    • Neuroaxonal dystrophy, a juvenile-adult form
    • VUIA O.: Neuroaxonal dystrophy, a juvenile-adult form, Clin. Neurol. Neurosurg., 1977, 79, 305-307.
    • (1977) Clin. Neurol. Neurosurg. , vol.79 , pp. 305-307
    • Vuia, O.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.