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Volumn 65, Issue 3, 1996, Pages 205-208

Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: A new example of the Chitty syndrome

Author keywords

Axenfeld anomaly; deficient eye movement; fibrotic eye muscles; Mobius sequence

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; EXTRAOCULAR MUSCLE; EYE MOVEMENT DISORDER; FEMALE; HUMAN; HYDROCEPHALUS; INFANT; MOEBIUS SYNDROME; MYOFIBROSIS; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 2742610400     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961028)65:3<205::AID-AJMG6>3.0.CO;2-O     Document Type: Article
Times cited : (6)

References (10)
  • 1
    • 0025815417 scopus 로고
    • Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities and a distinctive facial phenotype
    • Chitty LS, McCrimmon R, Temple IK, Russell-Eggitt IM, Baraister M (1991): Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities and a distinctive facial phenotype. Am J Med Genet 40:417-420.
    • (1991) Am J Med Genet , vol.40 , pp. 417-420
    • Chitty, L.S.1    McCrimmon, R.2    Temple, I.K.3    Russell-Eggitt, I.M.4    Baraister, M.5
  • 2
    • 0018552662 scopus 로고
    • The Rieger syndrome: An autosomal dominant disorder with ocular, dental and systemic abnormalities
    • Cross HE, Jorgenson RJ, Levin LS, Kelly T (1979): The Rieger syndrome: An autosomal dominant disorder with ocular, dental and systemic abnormalities. Perspect Ophthalmol 3:3-16.
    • (1979) Perspect Ophthalmol , vol.3 , pp. 3-16
    • Cross, H.E.1    Jorgenson, R.J.2    Levin, L.S.3    Kelly, T.4
  • 4
    • 0015607162 scopus 로고
    • Iris dysplasia, orbital hypertelorism and psychomotor retardation: A dominantly inherited developmental syndrome
    • De Hauwere RC, Leroy JG, Adriaenssens K (1973): Iris dysplasia, orbital hypertelorism and psychomotor retardation: A dominantly inherited developmental syndrome. J Pediatr 82:679-681.
    • (1973) J Pediatr , vol.82 , pp. 679-681
    • De Hauwere, R.C.1    Leroy, J.G.2    Adriaenssens, K.3
  • 5
    • 0017806488 scopus 로고
    • The Axenfeld syndrome and the Rieger syndrome
    • Fitch N, Koback M (1978): The Axenfeld syndrome and the Rieger syndrome. J Med Genet 15:30-34.
    • (1978) J Med Genet , vol.15 , pp. 30-34
    • Fitch, N.1    Koback, M.2
  • 10
    • 0008316569 scopus 로고
    • The eye
    • Stevenson RE, Hall JG and Goodman RM (eds): Chapter 4. Oxford, U.K.: Oxford University Press, Monographs on Medical Genetics nr. 24
    • Traboulsi EI (1993): The eye. In Stevenson RE, Hall JG and Goodman RM (eds): "Human Malformations and related Anomalies," Vol. II, Chapter 4. Oxford, U.K.: Oxford University Press, Monographs on Medical Genetics nr. 24, pp 163-192.
    • (1993) Human Malformations and Related Anomalies , vol.2 , pp. 163-192
    • Traboulsi, E.I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.