메뉴 건너뛰기




Volumn 12, Issue 3, 2003, Pages 191-194

Siblings with glaucoma, mental retardation and short stature

Author keywords

Congenital glaucoma; Mental retardation; ter Haar syndrome

Indexed keywords

ADOLESCENT; ARTICLE; BODY HEIGHT; BONE; BONE DEVELOPMENT; CASE REPORT; CHILD DEVELOPMENT; CHROMOSOME BANDING PATTERN; CLINICAL FEATURE; CONGENITAL GLAUCOMA; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FACE; FACIES; FEMALE; GENETICS; GLAUCOMA; HUMAN; KYPHOSCOLIOSIS; KYPHOSIS; MALE; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCOLIOSIS; SHORT STATURE; SIBLING; SPEECH DEVELOPMENT; SPEECH DISORDER; SYNDROME; UTERUS;

EID: 0042868757     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200307000-00009     Document Type: Article
Times cited : (6)

References (13)
  • 1
    • 0022993582 scopus 로고
    • Spastic paresis, glaucoma and mental retardation-a probable autosomal recessive syndrome?
    • Chenevix-Trench G, Leshner R, Mamunes P (1986). Spastic paresis, glaucoma and mental retardation-a probable autosomal recessive syndrome?. Clin Genet 30:416-421.
    • (1986) Clin Genet , vol.30 , pp. 416-421
    • Chenevix-Trench, G.1    Leshner, R.2    Mamunes, P.3
  • 3
    • 0028932497 scopus 로고
    • Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report
    • Hamel BCJ, Draaisma JMT, Pinckers AJLG, et al.(1995). Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet 56:312-316.
    • (1995) Am J Med Genet , vol.56 , pp. 312-316
    • Hamel, B.C.J.1    Draaisma, J.M.T.2    Pinckers, A.J.L.G.3
  • 4
    • 0019794151 scopus 로고
    • Spastic paraplegia, glaucoma and mental retardation in three siblings. A new genetic syndrome
    • Heijbel J, Jagell S (1981). Spastic paraplegia, glaucoma and mental retardation in three siblings. A new genetic syndrome. Hereditas 94:203-207.
    • (1981) Hereditas , vol.94 , pp. 203-207
    • Heijbel, J.1    Jagell, S.2
  • 5
    • 0027484894 scopus 로고
    • The Peters'-Plus syndrome: Description of 16 patients and review of the literature
    • Hennekam RCM, Van Schooneveld MJ, Ardinger HH, et al. (1993). The Peters'-Plus syndrome: description of 16 patients and review of the literature. Clin Dysmorphol 2:283-300.
    • (1993) Clin Dysmorphol , vol.2 , pp. 283-300
    • Hennekam, R.C.M.1    Van Schooneveld, M.J.2    Ardinger, H.H.3
  • 6
    • 0014837623 scopus 로고
    • Cerebral palsy and javenile glaucoma in siblings
    • Hyams SW, Jaffe M (1970). Cerebral palsy and javenile glaucoma in siblings. Dev Med Child Neurol 12:467-471.
    • (1970) Dev Med Child Neurol , vol.12 , pp. 467-471
    • Hyams, S.W.1    Jaffe, M.2
  • 8
    • 0030716477 scopus 로고    scopus 로고
    • Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: Report of another family
    • Mégarbané A, Tomey R, Wakim G (1997). Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. Am J Med Genet 73:67-70.
    • (1997) Am J Med Genet , vol.73 , pp. 67-70
    • Mégarbané, A.1    Tomey, R.2    Wakim, G.3
  • 9
    • 0020357860 scopus 로고
    • Melnick-Needles syndrome: Indication for an autosomal recessive form
    • ter Haar B, Hamel B, Hendriks J, de Jager J (1982). Melnick-Needles syndrome: indication for an autosomal recessive form. Am J Med Genet 13:469-477.
    • (1982) Am J Med Genet , vol.13 , pp. 469-477
    • Ter Haar, B.1    Hamel, B.2    Hendriks, J.3    De Jager, J.4
  • 10
    • 0027375726 scopus 로고
    • Kivlin syndrome and Peters'-Plus syndrome: Are they the same disorder?
    • Thompson EM, Winter RM, Baraitser M (1993). Kivlin syndrome and Peters'-Plus syndrome: are they the same disorder? Clin Dysmorphol 2:301-316.
    • (1993) Clin Dysmorphol , vol.2 , pp. 301-316
    • Thompson, E.M.1    Winter, R.M.2    Baraitser, M.3
  • 12
    • 84907115869 scopus 로고
    • Congenital glaucoma in a child with partial 1q duplication and 9p deletion
    • Verbraak FD, Pogany K, Pilon JW, et al.(1992). Congenital glaucoma in a child with partial 1q duplication and 9p deletion. Ophthal Paed Genet 13:165-170.
    • (1992) Ophthal Paed Genet , vol.13 , pp. 165-170
    • Verbraak, F.D.1    Pogany, K.2    Pilon, J.W.3
  • 13
    • 0030963306 scopus 로고    scopus 로고
    • Extended survival in a new case of ter Haar syndrome: Further delineation of the syndrome
    • Wallerstein R, Scott CIJr, Nicholson L (1997). Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome. Am J Med Genet 70:267-272.
    • (1997) Am J Med Genet , vol.70 , pp. 267-272
    • Wallerstein, R.1    Scott C.I., Jr.2    Nicholson, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.