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Volumn 21, Issue 10, 2006, Pages 893-896

Megalocornea and mental retardation syndrome: Clinical and instrumental follow-up of a case

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CLONAZEPAM; ETHOSUXIMIDE; LAMOTRIGINE; THYROID HORMONE; THYROXINE; TOPIRAMATE; TRIACYLGLYCEROL; VALPROIC ACID; VIGABATRIN;

EID: 33846238972     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738060210100801     Document Type: Article
Times cited : (5)

References (20)
  • 1
    • 0016594780 scopus 로고
    • Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocornea, recessively inherited
    • Neuhauser GE, Kaveggia, G, France TD, Opitz JM: Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocornea, recessively inherited Z Kinderheilk 1975;120:1-18.
    • (1975) Z Kinderheilk , vol.120 , pp. 1-18
    • Neuhauser, G.E.1    Kaveggia, G.2    France, T.D.3    Opitz, J.M.4
  • 2
    • 0015733915 scopus 로고
    • Megalocornea associated with multiple skeletal anomalies: A new genetic syndrome
    • Frank Y, Ziprkowski M, Romano A, et al: Megalocornea associated with multiple skeletal anomalies: A new genetic syndrome. J Genet Hum 1973;2:67-72.
    • (1973) J Genet Hum , vol.2 , pp. 67-72
    • Frank, Y.1    Ziprkowski, M.2    Romano, A.3
  • 3
    • 4243279475 scopus 로고
    • The syndrome of mental retardation and megalocornea
    • Schmidt R, Rapin L: The syndrome of mental retardation and megalocornea. Am J Hum Genet 1981;30:90A.
    • (1981) Am J Hum Genet , vol.30
    • Schmidt, R.1    Rapin, L.2
  • 5
    • 4243497860 scopus 로고
    • Megalocornea, mental retardation syndrome (MMR): Delineation of a new entity (MMR-2)
    • Temtamy S, Abdel-Hamid J, Hussein F, et al: Megalocornea, mental retardation syndrome (MMR): Delineation of a new entity (MMR-2). Am J Hum Genet 1991;49:125A.
    • (1991) Am J Hum Genet , vol.49
    • Temtamy, S.1    Abdel-Hamid, J.2    Hussein, F.3
  • 6
    • 0027460382 scopus 로고
    • Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types
    • Verloes A, Journel H, Elmer C, et al: Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types. Am J Med Genet 1993; 46:132-137.
    • (1993) Am J Med Genet , vol.46 , pp. 132-137
    • Verloes, A.1    Journel, H.2    Elmer, C.3
  • 7
    • 33846214209 scopus 로고
    • Megalocornea-mental retardation with delayed myelinization
    • Kimura M, Kato M, Yoshino E, et al: Megalocornea-mental retardation with delayed myelinization. Am J Med Genet 1991;98:192-193.
    • (1991) Am J Med Genet , vol.98 , pp. 192-193
    • Kimura, M.1    Kato, M.2    Yoshino, E.3
  • 8
    • 0026610162 scopus 로고
    • Additional case of Neuhauser megalocornea and mental retardation syndrome with congenital hypotonia
    • Santolaya JM, Griyalbo A, Delgado A, Erdozain G: Additional case of Neuhauser megalocornea and mental retardation syndrome with congenital hypotonia. Am J Med Genet 1992;43:609-611.
    • (1992) Am J Med Genet , vol.43 , pp. 609-611
    • Santolaya, J.M.1    Griyalbo, A.2    Delgado, A.3    Erdozain, G.4
  • 9
    • 0027931413 scopus 로고
    • Megalocornea-mental retardation syndrome: An additional case
    • Antinolo G, Rufo M, Borrego S, Morales C: Megalocornea-mental retardation syndrome: An additional case. Am J Med Genet 1994;52: 196-197.
    • (1994) Am J Med Genet , vol.52 , pp. 196-197
    • Antinolo, G.1    Rufo, M.2    Borrego, S.3    Morales, C.4
  • 10
    • 0028182621 scopus 로고
    • Megalocornea, developmental retardation and dysmorphic features: Two further patients
    • Gibbs ML, Wilkie AOM, Winter RM, et al: Megalocornea, developmental retardation and dysmorphic features: Two further patients. Clin Dysmorphol 1994;3:132-138.
    • (1994) Clin Dysmorphol , vol.3 , pp. 132-138
    • Gibbs, M.L.1    Wilkie, A.O.M.2    Winter, R.M.3
  • 11
    • 0029907482 scopus 로고    scopus 로고
    • Megalocornea-mental retardation syndrome: Report of a new case
    • Barisic I, Ligutic I, Zergollern L: Megalocornea-mental retardation syndrome: Report of a new case. J Med Genet 1996;33:882-883.
    • (1996) J Med Genet , vol.33 , pp. 882-883
    • Barisic, I.1    Ligutic, I.2    Zergollern, L.3
  • 12
    • 0030695467 scopus 로고    scopus 로고
    • Megalocornea-mental retardation syndrome: An additional case report
    • Naritomi K, Chinen Y, Tohma T: Megalocornea-mental retardation syndrome: An additional case report. Jpn J Hum Genet 1997;42:461-465.
    • (1997) Jpn J Hum Genet , vol.42 , pp. 461-465
    • Naritomi, K.1    Chinen, Y.2    Tohma, T.3
  • 13
    • 0036658955 scopus 로고    scopus 로고
    • Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhauser syndrome) in two sisters with hypoplastic corpus callosum
    • Balci S, Teksam Ö, Gedik S: Megalocornea, macrocephaly, mental and motor retardation: MMMM syndrome (Neuhauser syndrome) in two sisters with hypoplastic corpus callosum. Turk J Pediatr 2002;44: 274-277.
    • (2002) Turk J Pediatr , vol.44 , pp. 274-277
    • Balci, S.1    Teksam, Ö.2    Gedik, S.3
  • 14
    • 0036707799 scopus 로고    scopus 로고
    • Primary hypothyroidism and osteopenia associated with Neuhauser syndrome
    • Sarkozy A, Mingarelli R, Brancati F, Dallapiccola B: Primary hypothyroidism and osteopenia associated with Neuhauser syndrome. Am J Mod Genet 2002; 111:412-444.
    • (2002) Am J Mod Genet , vol.111 , pp. 412-444
    • Sarkozy, A.1    Mingarelli, R.2    Brancati, F.3    Dallapiccola, B.4
  • 15
    • 11144329499 scopus 로고    scopus 로고
    • Megalocornea-mental retardation (MMR or Neuhauser) syndrome: Another case associated with cerebral cortical atrophy and bifid uvula
    • Ďerbent BM, Oto S, Alehan F, et al: Megalocornea-mental retardation (MMR or Neuhauser) syndrome: Another case associated with cerebral cortical atrophy and bifid uvula. Genet Couns 2004;15:477-480.
    • (2004) Genet Couns , vol.15 , pp. 477-480
    • Ďerbent, B.M.1    Oto, S.2    Alehan, F.3
  • 16
    • 0022860050 scopus 로고
    • Megalocornea, and mental retardation syndrome: Two new cases
    • Del Giudice E, Sartorio R, Romano A, et al: Megalocornea, and mental retardation syndrome: Two new cases. Am J Med Genet 1987;26:417-420.
    • (1987) Am J Med Genet , vol.26 , pp. 417-420
    • Del Giudice, E.1    Sartorio, R.2    Romano, A.3
  • 17
    • 0024384396 scopus 로고
    • Megalocornea and mental retardation syndrome: A new case
    • Grønbech-Jensen M: Megalocornea and mental retardation syndrome: A new case. Am J Med Genet 1989;32:468-469.
    • (1989) Am J Med Genet , vol.32 , pp. 468-469
    • Grønbech-Jensen, M.1
  • 18
    • 0032790311 scopus 로고    scopus 로고
    • A case of megalocornea-mental retardation syndrome complicated with bilateral sensori-neural hearing impairment
    • Tominaga N, Kondoh T, Kamimura N, et al: A case of megalocornea-mental retardation syndrome complicated with bilateral sensori-neural hearing impairment. Pediatr Int 1999;41:392-394.
    • (1999) Pediatr Int , vol.41 , pp. 392-394
    • Tominaga, N.1    Kondoh, T.2    Kamimura, N.3
  • 19
    • 0005561499 scopus 로고
    • A case of the syndrome of megalocornea, mental retardation and seizures (Neuhauser)
    • Ohno K, Suzuki Y: A case of the syndrome of megalocornea, mental retardation and seizures (Neuhauser). Shounika Rinshou 1978;31: 1977-1979.
    • (1978) Shounika Rinshou , vol.31 , pp. 1977-1979
    • Ohno, K.1    Suzuki, Y.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.