메뉴 건너뛰기




Volumn 14, Issue 1, 2005, Pages 1-5

Further delineation of Al-Gazali syndrome (multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality) in a Malaysian family

Author keywords

Anterior segment anomalies of the eye; Fractures; Joint contractures; Skeletal abnormalities

Indexed keywords

AL GAZALI SYNDROME; ANTERIOR EYE SEGMENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN VENTRICLE DILATATION; CAMPTODACTYLY; CASE REPORT; CHORDEE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; EYE MALFORMATION; FRACTURE; HUMAN; HYPOSPADIAS; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; LETHALITY; LIMB MALFORMATION; MALAYSIA; MALE; NEWBORN; OSTEOPENIA; PES EQUINOVARUS; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SCOLIOSIS; SIBLING; SKELETON MALFORMATION; SYNDROME DELINEATION; SYNOSTOSIS; TRICUSPID VALVE REGURGITATION;

EID: 13244286574     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200501000-00001     Document Type: Article
Times cited : (3)

References (7)
  • 1
    • 0028050455 scopus 로고
    • Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?
    • Al-Gazali LI, Al-Talabani J, Mosawi A, Lytle W (1994). Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome? Clin Dysmorphol 3:238-244.
    • (1994) Clin Dysmorphol , vol.3 , pp. 238-244
    • Al-Gazali, L.I.1    Al-Talabani, J.2    Mosawi, A.3    Lytle, W.4
  • 2
    • 0032958899 scopus 로고    scopus 로고
    • Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: Confirmation of an autosomal recessive syndrome
    • Al-Gazali LI, Bakir M, Sadaghatian MR, Nath R, Haas D (1999). Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome. Clin Dysmorphol 8:87-92.
    • (1999) Clin Dysmorphol , vol.8 , pp. 87-92
    • Al-Gazali, L.I.1    Bakir, M.2    Sadaghatian, M.R.3    Nath, R.4    Haas, D.5
  • 3
    • 0016736856 scopus 로고
    • Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures
    • Antley RM, Bixler D (1975). Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects OAS 11:397-401.
    • (1975) Birth Defects OAS , vol.11 , pp. 397-401
    • Antley, R.M.1    Bixler, D.2
  • 4
    • 0030861559 scopus 로고    scopus 로고
    • Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome) - Evidence for possible autosomal recessive inheritance
    • Brady AF, Patton MA (1997). Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome) - evidence for possible autosomal recessive inheritance. Clin Dysmorphol 6:329-336.
    • (1997) Clin Dysmorphol , vol.6 , pp. 329-336
    • Brady, A.F.1    Patton, M.A.2
  • 5
    • 0032543288 scopus 로고    scopus 로고
    • FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome
    • Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray PN (1998). FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet 77:219-224.
    • (1998) Am J Med Genet , vol.77 , pp. 219-224
    • Chun, K.1    Siegel-Bartelt, J.2    Chitayat, D.3    Phillips, J.4    Ray, P.N.5
  • 6
    • 0018014258 scopus 로고
    • A clefting syndrome with ocular anterior chamber defect and lid anomalies
    • Michels VV, Hittner HM, Beaudet AL (1978). A clefting syndrome with ocular anterior chamber defect and lid anomalies. J Pediatr 93:444-446.
    • (1978) J Pediatr , vol.93 , pp. 444-446
    • Michels, V.V.1    Hittner, H.M.2    Beaudet, A.L.3
  • 7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.