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Volumn 29, Issue 6, 2008, Pages 1090-1091

Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREATHING DISORDER; BREECH PRESENTATION; CASE REPORT; CEREBELLUM VERMIS; CESAREAN SECTION; DYSOSTOSIS; FRONTAL BOSSING; GESTATIONAL AGE; HAMARTOMA; HEMISPHERE; HUMAN; HYPOPLASIA; MACROCEPHALY; MALE; MOLAR TOOTH; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEWBORN; NEWBORN PERIOD; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; CEREBELLUM DISEASE; FETUS DISEASE; METHODOLOGY; SYNDROME;

EID: 46749093363     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: 10.3174/ajnr.A1038     Document Type: Article
Times cited : (32)

References (15)
  • 1
    • 0018878503 scopus 로고
    • Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies
    • Váradi V, Szabo L, Papp Z. Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies. J Med Genet 1980;17:119-22
    • (1980) J Med Genet , vol.17 , pp. 119-122
    • Váradi, V.1    Szabo, L.2    Papp, Z.3
  • 2
    • 0025099046 scopus 로고
    • Oral-facial-digital syndrome type VI (Váradi syndrome): Further clinical delineation
    • Munke M, McDonald DM, Cronister A, et al. Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. Am J Med Genet 1990;35:360-69
    • (1990) Am J Med Genet , vol.35 , pp. 360-369
    • Munke, M.1    McDonald, D.M.2    Cronister, A.3
  • 3
    • 34247611467 scopus 로고    scopus 로고
    • Joubert syndrome (and related disorders) (OMIM 213300)
    • Parisi MA, Doherty D, Chance PF, et al. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet 2007;15:511-21
    • (2007) Eur J Hum Genet , vol.15 , pp. 511-521
    • Parisi, M.A.1    Doherty, D.2    Chance, P.F.3
  • 4
    • 0032851825 scopus 로고    scopus 로고
    • Clinical features and revised diagnostic criteria in Joubert syndrome
    • Maria BL, Boltshauser E, Palmer SC, et al. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999;14:583-90
    • (1999) J Child Neurol , vol.14 , pp. 583-590
    • Maria, B.L.1    Boltshauser, E.2    Palmer, S.C.3
  • 5
    • 37249092507 scopus 로고    scopus 로고
    • The face of Joubert syndrome: A study of dysmorphology and anthropometry
    • Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A 2007;143:3235-42
    • (2007) Am J Med Genet A , vol.143 , pp. 3235-3242
    • Braddock, S.R.1    Henley, K.M.2    Maria, B.L.3
  • 6
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
    • Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A 2004;125:125-34
    • (2004) Am J Med Genet A , vol.125 , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3
  • 7
    • 0028200517 scopus 로고
    • Hypothalamic hamartomain oral-facial-digital syndrome type VI (Váradi syndrome)
    • Stephan MJ, Brooks KL, Moore DC, et al. Hypothalamic hamartomain oral-facial-digital syndrome type VI (Váradi syndrome). Am J Med Genet 1994;51:131-36
    • (1994) Am J Med Genet , vol.51 , pp. 131-136
    • Stephan, M.J.1    Brooks, K.L.2    Moore, D.C.3
  • 8
    • 21844453250 scopus 로고    scopus 로고
    • Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI
    • Doherty D, Glass IA, Siebert JR, et al. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn 2005;25:442-47
    • (2005) Prenat Diagn , vol.25 , pp. 442-447
    • Doherty, D.1    Glass, I.A.2    Siebert, J.R.3
  • 10
    • 33745169711 scopus 로고    scopus 로고
    • Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders
    • Fluss J, Blaser S, Chitayat D, et al. Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol 2006;21:320-24
    • (2006) J Child Neurol , vol.21 , pp. 320-324
    • Fluss, J.1    Blaser, S.2    Chitayat, D.3
  • 11
    • 10844270508 scopus 로고    scopus 로고
    • Prenatal sonographic findings in a case of Varadi-Papp syndrome
    • Guven MA, Ceylaner S, Prefumo F, et al. Prenatal sonographic findings in a case of Varadi-Papp syndrome. Prenat Diagn 2004;24:989-91
    • (2004) Prenat Diagn , vol.24 , pp. 989-991
    • Guven, M.A.1    Ceylaner, S.2    Prefumo, F.3
  • 12
    • 33749465587 scopus 로고    scopus 로고
    • Prenatal diagnosis of episodic tachypnea in an infant with OFD VI
    • McPherson E, Zaleski C, Mascola M. Prenatal diagnosis of episodic tachypnea in an infant with OFD VI. Am J Med Genet A 2006;140:2146-49
    • (2006) Am J Med Genet A , vol.140 , pp. 2146-2149
    • McPherson, E.1    Zaleski, C.2    Mascola, M.3
  • 13
    • 0031019090 scopus 로고    scopus 로고
    • GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
    • Kang S, Graham JM, Jr., Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997;15:266-68
    • (1997) Nat Genet , vol.15 , pp. 266-268
    • Kang, S.1    Graham Jr., J.M.2    Olney, A.H.3    Biesecker, L.G.4
  • 14
    • 1642383808 scopus 로고    scopus 로고
    • MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: Analysis of 72 cases
    • Freeman JL, Coleman LT, Wellard RM, et al. MR imaging and spectroscopic study of epileptogenic hypothalamic hamartomas: analysis of 72 cases. AJNR Am J Neuroradiol 2004;25:450-62
    • (2004) AJNR Am J Neuroradiol , vol.25 , pp. 450-462
    • Freeman, J.L.1    Coleman, L.T.2    Wellard, R.M.3
  • 15
    • 4143049007 scopus 로고    scopus 로고
    • Pre- and postnatal MR imaging of hypothalamic hamartomas associated with arachnoid cysts
    • Booth TN, Timmons C, Shapiro K, et al. Pre- and postnatal MR imaging of hypothalamic hamartomas associated with arachnoid cysts. AJNR Am J Neuroradiol 2004;25:1283-85
    • (2004) AJNR Am J Neuroradiol , vol.25 , pp. 1283-1285
    • Booth, T.N.1    Timmons, C.2    Shapiro, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.