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Volumn 41, Issue 4, 1999, Pages 392-394

A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment

Author keywords

Megalocornea mental retardation syndrome; Sensorineural deafness; Ultrasound biomicroscopy

Indexed keywords

ARTICLE; CASE REPORT; CHILD; COMPLEX PARTIAL SEIZURE; CORNEA; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; EVOKED BRAIN STEM AUDITORY RESPONSE; EYE MALFORMATION; FEMALE; HUMAN; MENTAL DEFICIENCY; PERCEPTION DEAFNESS; PHYSICAL DEVELOPMENT; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SYNDROME;

EID: 0032790311     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200x.1999.01081.x     Document Type: Article
Times cited : (7)

References (10)
  • 1
    • 0027460382 scopus 로고
    • Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndrome: Report of new cases and delineation of 4 probable types
    • 1 Verloes A, Journel H, Elmer C et al. Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndrome: Report of new cases and delineation of 4 probable types. Am. J. Med. Genet. 1993; 46: 132-7.
    • (1993) Am. J. Med. Genet. , vol.46 , pp. 132-137
    • Verloes, A.1    Journel, H.2    Elmer, C.3
  • 2
  • 3
    • 0030695467 scopus 로고    scopus 로고
    • Megalocornea-mental retardation syndrome: An additional case report
    • 3 Naritomi K, Chinen Y, Tohma T. Megalocornea-mental retardation syndrome: An additional case report. Jpn J. Hum. Genet. 1997; 42: 461-5.
    • (1997) Jpn J. Hum. Genet. , vol.42 , pp. 461-465
    • Naritomi, K.1    Chinen, Y.2    Tohma, T.3
  • 4
    • 0016594780 scopus 로고
    • Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited
    • in German
    • 4 Neuhauser GE, Kaveggia G, France TD, Opitz JM. Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited. Z. Kinderheilkd 1975; 120: 1-18 (in German).
    • (1975) Z. Kinderheilkd , vol.120 , pp. 1-18
    • Neuhauser, G.E.1    Kaveggia, G.2    France, T.D.3    Opitz, J.M.4
  • 5
    • 0027931413 scopus 로고
    • Megalocornea-mental retardation syndrome: An additional case
    • 5 Antinolo G, Rufo M, Borrego S, Morales C. Megalocornea-mental retardation syndrome: An additional case. Am. J. Med. Genet. 1994; 52: 196-7.
    • (1994) Am. J. Med. Genet. , vol.52 , pp. 196-197
    • Antinolo, G.1    Rufo, M.2    Borrego, S.3    Morales, C.4
  • 6
    • 0026610162 scopus 로고
    • Additional case of neuhauser megalocornea mental retardation syndrome with congenital hypotonia
    • 6 Santolaya JM, Grijalbo A, Delgado A, Erdozaín G. Additional case of Neuhauser megalocornea mental retardation syndrome with congenital hypotonia. Am. J. Med. Genet. 1992; 43: 609-11.
    • (1992) Am. J. Med. Genet. , vol.43 , pp. 609-611
    • Santolaya, J.M.1    Grijalbo, A.2    Delgado, A.3    Erdozaín, G.4
  • 10
    • 0015733915 scopus 로고
    • Megalocornea associated with multiple skeletal anomalies: A new genetic syndrome
    • 10 Frank Y, Ziprkowski M, Romano A et al. Megalocornea associated with multiple skeletal anomalies: A new genetic syndrome. J. Genet. Hum. 1973; 21: 67-72.
    • (1973) J. Genet. Hum. , vol.21 , pp. 67-72
    • Frank, Y.1    Ziprkowski, M.2    Romano, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.