메뉴 건너뛰기




Volumn 36, Issue 5, 2008, Pages 315-317

Fryns syndrome: Case report and review of the literature

Author keywords

Cleft palate; Congenital diaphragmatic hernia; Fryns syndrome; Nail hypoplasia; Pulmonary hypoplasia

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; BIOMETRY; CASE REPORT; CLEFT LIP FACE PALATE; CLINICAL FEATURE; CONGENITAL DIAPHRAGM HERNIA; DIAGNOSTIC IMAGING; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; FRYNS SYNDROME; GESTATIONAL AGE; HIRSUTISM; HUMAN; HYPERTELORISM; IMAGE ANALYSIS; LUNG HYPOPLASIA; PRENATAL DIAGNOSIS;

EID: 44349112482     PISSN: 00912751     EISSN: 10970096     Source Type: Journal    
DOI: 10.1002/jcu.20409     Document Type: Article
Times cited : (4)

References (15)
  • 1
    • 0018305302 scopus 로고
    • A new lethal syndrome with cloudy cornea, diaphragmatic defects, and distal limb deformities
    • Fryns JP, Moerman F, Goddeeris P, et al. A new lethal syndrome with cloudy cornea, diaphragmatic defects, and distal limb deformities. Hum Genet 1979;50:65.
    • (1979) Hum Genet , vol.50 , pp. 65
    • Fryns, J.P.1    Moerman, F.2    Goddeeris, P.3
  • 2
    • 0023202062 scopus 로고
    • Fryns syndrome: A variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia
    • Fryns JP. Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet 1987;24:271.
    • (1987) J Med Genet , vol.24 , pp. 271
    • Fryns, J.P.1
  • 3
    • 44349134594 scopus 로고    scopus 로고
    • Jones KL. Smith's recognizable patterns of human malformation.5th edition. Philadelphia: WB Saunders; 1997. p. 210.
    • Jones KL. Smith's recognizable patterns of human malformation.5th edition. Philadelphia: WB Saunders; 1997. p. 210.
  • 4
    • 0942279747 scopus 로고    scopus 로고
    • Fryns syndrome: A review of the phenotype and diagnostic guidelines
    • Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet 2004;124A:427.
    • (2004) Am J Med Genet , vol.124 A , pp. 427
    • Slavotinek, A.M.1
  • 5
    • 28444496732 scopus 로고    scopus 로고
    • Cardiovascular malformations in Fryns syndrome: Is there a pathologic role for neural crest cell?
    • Lin AE, Pober BR, Mullen MP, et al. Cardiovascular malformations in Fryns syndrome: is there a pathologic role for neural crest cell? Am J Med Genet 2005;139:186.
    • (2005) Am J Med Genet , vol.139 , pp. 186
    • Lin, A.E.1    Pober, B.R.2    Mullen, M.P.3
  • 6
    • 0031824081 scopus 로고    scopus 로고
    • Ultrasound prenatal diagnosis of the nail-patella syndrome
    • Feingold M, Itzchak Y, Goodman RM. Ultrasound prenatal diagnosis of the nail-patella syndrome. Prenat Diagn 1998;18:854.
    • (1998) Prenat Diagn , vol.18 , pp. 854
    • Feingold, M.1    Itzchak, Y.2    Goodman, R.M.3
  • 7
    • 0033744873 scopus 로고    scopus 로고
    • Evaluation of the prenatal diagnosis of limb reduction deficiencies
    • Stoll C, Wiesel A, Queisser-Luft A, et al. Evaluation of the prenatal diagnosis of limb reduction deficiencies. Prenat Diagn 2000;20:811.
    • (2000) Prenat Diagn , vol.20 , pp. 811
    • Stoll, C.1    Wiesel, A.2    Queisser-Luft, A.3
  • 9
    • 0025343079 scopus 로고
    • Fryns syndrome: An autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia
    • Cunniff C, Jones KL, Saal HM, et al. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics 1990;85:499.
    • (1990) Pediatrics , vol.85 , pp. 499
    • Cunniff, C.1    Jones, K.L.2    Saal, H.M.3
  • 10
    • 0032875542 scopus 로고    scopus 로고
    • Hematometra and sudden death after status epilepticus in an adolescent female with Fryns syndrome
    • Dingens M, Fryns JP. Hematometra and sudden death after status epilepticus in an adolescent female with Fryns syndrome. Genet Couns 1999;10:329.
    • (1999) Genet Couns , vol.10 , pp. 329
    • Dingens, M.1    Fryns, J.P.2
  • 12
    • 0027941166 scopus 로고
    • Tetrasomy 12p (Pallister-Killian syndrome): Ultrasound indicators and confirmation by interphase fish
    • Wilson RD, Harrison K, Clarke LA, et al. Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish. Prenat Diagn 1994;14:787.
    • (1994) Prenat Diagn , vol.14 , pp. 787
    • Wilson, R.D.1    Harrison, K.2    Clarke, L.A.3
  • 13
    • 0027489551 scopus 로고
    • Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome
    • Cunniff C, Curry CJ, Carey JC, et al. Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. Am J Med Genet 1993;47:1018.
    • (1993) Am J Med Genet , vol.47 , pp. 1018
    • Cunniff, C.1    Curry, C.J.2    Carey, J.C.3
  • 14
    • 0036294797 scopus 로고    scopus 로고
    • Pallister-Killian syndrome: Difficulties of prenatal diagnosis
    • Doray B, Girard-Lemaire F, Gasser B, et al. Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn 2002;22:470.
    • (2002) Prenat Diagn , vol.22 , pp. 470
    • Doray, B.1    Girard-Lemaire, F.2    Gasser, B.3
  • 15
    • 0027429307 scopus 로고
    • de Lange syndrome: A clinical review of 310 individuals
    • Jackson L, Kline AD, Barr MA, et al. de Lange syndrome: a clinical review of 310 individuals. Am J Med Genet 1993;47:940.
    • (1993) Am J Med Genet , vol.47 , pp. 940
    • Jackson, L.1    Kline, A.D.2    Barr, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.