메뉴 건너뛰기




Volumn 8, Issue 6, 2008, Pages 308-314

Focus on the physical assessment of the infant with stickler syndrome

Author keywords

Cleft palate; Inherited immune disorders; Micrognathia; Pierre Robin sequence; Retinal detachment; Stickler syndrome

Indexed keywords

CONNECTIVE TISSUE DISEASE; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; HUMAN; INFANT; NEWBORN; NURSING; NURSING ASSESSMENT; PIERRE ROBIN SYNDROME; REVIEW; SYNDROME;

EID: 63249091376     PISSN: 15360903     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ANC.0000342763.64240.69     Document Type: Article
Times cited : (6)

References (23)
  • 1
    • 0001713439 scopus 로고
    • Hereditary progressive arthro-ophthal- mopathy
    • Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthro-ophthal- mopathy. Mayo Clin Proc. 1965;40(6):433-455.
    • (1965) Mayo. Clin. Proc. , vol.40 , Issue.6 , pp. 433-455
    • Stickler, G.B.1    Belau, P.G.2    Farrell, F.J.3
  • 2
    • 70349238914 scopus 로고    scopus 로고
    • Stickler syndrome: Clinical characteristics and diagnostic criteria
    • Rose PS, Levy HP, Liberfarb RM, et al. Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet. 2005;9999:1-9.
    • (2005) Am J Med. Genet. , vol.9999 , pp. 1-9
    • Rose, P.S.1    Levy, H.P.2    Liberfarb, R.M.3
  • 3
    • 0035865670 scopus 로고    scopus 로고
    • Thoracolumbar spinal abnormalities in Stickler syndrome
    • Rose PS, Ahn NU, Levy HP, et al. Thoracolumbar spinal abnormalities in Stickler syndrome. Spine. 2001;26:403-409.
    • (2001) Spine , vol.26 , pp. 403-409
    • Rose, P.S.1    Ahn, N.U.2    Levy, H.P.3
  • 4
    • 0035985827 scopus 로고    scopus 로고
    • Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome
    • Lisi V, Guala A, Lopea A, et al. Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. Genet Couns. 2002;13(2):163-170.
    • (2002) Genet. Couns. , vol.13 , Issue.2 , pp. 163-170
    • Lisi, V.1    Guala, A.2    Lopea, A.3
  • 6
    • 70349240554 scopus 로고    scopus 로고
    • Genetics Home Reference. Accessed January 4
    • Genetics Home Reference. Stickler syndrome. http://ghr.nlm.nih.gov/ghr/ search? query=stickler±syndrome. Accessed January 4, 2005.
    • (2005) Stickler Syndrome
  • 7
    • 0033169679 scopus 로고    scopus 로고
    • Beyond Pierre Robin sequence
    • Prows CA, Bender PL. Beyond Pierre Robin sequence. Neonatal Netw. 1999;18(5):13-19.
    • (1999) Neonatal Netw. , vol.18 , Issue.5 , pp. 13-19
    • Prows, C.A.1    Bender, P.L.2
  • 8
    • 0032167683 scopus 로고
    • Genetics and hearing loss: A review of Stickler syndrome
    • Nowak CB. Genetics and hearing loss: a review of Stickler syndrome. J Commun Disord. 1988;437-454.
    • (1988) J Commun. Disord. , pp. 437-454
    • Nowak, C.B.1
  • 9
    • 0034149784 scopus 로고    scopus 로고
    • The Stickler syndrome: Case reports and literature review
    • Bowling EL, Brown MD, Trundle TV. The Stickler syndrome: case reports and literature review. Optometry. 2000;71(3):177-182.
    • (2000) Optometry , vol.71 , Issue.3 , pp. 177-182
    • Bowling, E.L.1    Brown, M.D.2    Trundle, T.V.3
  • 10
    • 0036199225 scopus 로고    scopus 로고
    • The diagnosis and consequences of Stickler syndrome
    • Webb AC, Markus AF. The diagnosis and consequences of Stickler syndrome. Br J Oral Maxillofac Surg. 2002;40:49-51.
    • (2002) Br J Oral. Maxillofac. Surg. , vol.40 , pp. 49-51
    • Webb, A.C.1    Markus, A.F.2
  • 13
    • 0041805505 scopus 로고    scopus 로고
    • The Stickler syndrome: Genotype/ phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus
    • Liberfarb RM, Levy HP, Rose PS, et al. The Stickler syndrome: genotype/ phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genet Med. 2003;5:21-27.
    • (2003) COL2A1. Genet. Med. , vol.5 , pp. 21-27
    • Liberfarb, R.M.1    Levy, H.P.2    Rose, P.S.3
  • 15
    • 0022450605 scopus 로고
    • Prevalence of mitral-valve prolapse in the Stickler syndrome
    • Liberfarb RM, Goldblatt A. Prevalence of mitral-valve prolapse in the Stickler syndrome. Am J Med Genet. 1986;24:387-392.
    • (1986) Am J Med. Genet. , vol.24 , pp. 387-392
    • Liberfarb, R.M.1    Goldblatt, A.2
  • 18
    • 0020004511 scopus 로고
    • The Weissenbacher-Zweymuller syndrome: Possible neonatal expression of the Stickler syndrome
    • Kelly TE, Wells HH, Tuck KB. The Weissenbacher-Zweymuller syndrome: possible neonatal expression of the Stickler syndrome. Am J Med Genet. 1982;11:113-119.
    • (1982) Am J Med. Genet. , vol.11 , pp. 113-119
    • Kelly, T.E.1    Wells, H.H.2    Tuck, K.B.3
  • 19
    • 70349263593 scopus 로고    scopus 로고
    • National Organization for Rare Disorders. Accessed January 4
    • National Organization for Rare Disorders. Catel-Manzke syndrome. http://www. rarediseases.org/search/rdbdetail-fullreport.html?disname = Catel%20Manzke% 20Syndrome. Accessed January 4, 2005.
    • (2005) Catel-Manzke Syndrome
  • 20
    • 0035170805 scopus 로고    scopus 로고
    • Diagnosis and treatment of the Pierre Robin sequence: Results of a retrospective clinical study and review of the literature
    • Van den Elzen A, Semmekrot BA, Bongers E, Huygen P, Marres H. Diagnosis and treatment of the Pierre Robin sequence: results of a retrospective clinical study and review of the literature. Eur J Pediatr. 2001;160:47-53.
    • (2001) Eur. J Pediatr. , vol.160 , pp. 47-53
    • Van Den Elzen, A.1    Semmekrot, B.A.2    Bongers, E.3    Huygen, P.4    Marres, H.5
  • 21
    • 0141502232 scopus 로고    scopus 로고
    • Correction of upper airway obstruction in the newborn with internal mandibular distraction osteogenesis
    • Izadi K, Yellon R, Mandell D, et al. Correction of upper airway obstruction in the newborn with internal mandibular distraction osteogenesis. J Craniofac Surg. 2003;14(4):493-499.
    • (2003) J Craniofac. Surg. , vol.14 , Issue.4 , pp. 493-499
    • Izadi, K.1    Yellon, R.2    Mandell, D.3
  • 22
    • 70349245025 scopus 로고    scopus 로고
    • American Speech-Language-Hearing Association. Accessed January 5
    • American Speech-Language-Hearing Association. Types of hearing loss. http:// www.asha.org/public/hearing/disorders/types.htm. Accessed January 5, 2005.
    • (2005) Types of Hearing Loss
  • 23
    • 70349249640 scopus 로고    scopus 로고
    • American Speech-Language-Hearing Association. Accessed January 5
    • American Speech-Language-Hearing Association. Children and hearing aids. http://www.asha.org/public/hearing/treatment/child-aids.htm. Accessed January 5, 2005.
    • (2005) Children and Hearing Aids


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.