메뉴 건너뛰기




Volumn 149, Issue 5, 2009, Pages 943-951

Morphological abnormalities in children with thyroidal congenital hypothyroidism

Author keywords

Congenital hypothyroidism; Morphological abnormalities; Phenotype

Indexed keywords

ADULT; ARTICLE; BODY SURFACE; CHILD; CONGENITAL HYPOTHYROIDISM; CONGENITAL MALFORMATION; CONTROLLED STUDY; ECTROPION; FEMALE; HAMMER TOE; HUMAN; MACROSTOMIA; MAJOR CLINICAL STUDY; MALE; MICROSTOMIA; OLIGODONTIA; PHYSICAL EXAMINATION; PLAGIOCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYNDACTYLY; THYROID DYSGENESIS;

EID: 66849124930     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32777     Document Type: Article
Times cited : (10)

References (48)
  • 3
    • 0001677717 scopus 로고
    • Controlling the false discovery rate: A practical and powerful approach to multiple testing
    • Benjamini Y, Hochberg Y. 1995. Controlling the false discovery rate: A practical and powerful approach to multiple testing. J R Stat Soc Ser B 57:289-300.
    • (1995) J R Stat Soc Ser B , vol.57 , pp. 289-300
    • Benjamini, Y.1    Hochberg, Y.2
  • 4
    • 0030983833 scopus 로고    scopus 로고
    • Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
    • Biebermann H, Schoneberg T, Krude H, Schultz G, Gudermann T, Gruters A. 1997. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. J Clin Endocrinol Metab 82:3471-3480.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3471-3480
    • Biebermann, H.1    Schoneberg, T.2    Krude, H.3    Schultz, G.4    Gudermann, T.5    Gruters, A.6
  • 5
    • 0034999523 scopus 로고    scopus 로고
    • Castanet M, Polak M, Bonai?ti-Pellie C, Lyonnet S, Czernichow P, Leger J. 2001. Nineteen years of national screening for congenital hypothyroid- ism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 86:2009-2014.
    • Castanet M, Polak M, Bonai?ti-Pellie C, Lyonnet S, Czernichow P, Leger J. 2001. Nineteen years of national screening for congenital hypothyroid- ism: Familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 86:2009-2014.
  • 9
    • 0034885770 scopus 로고    scopus 로고
    • A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child
    • Congdon T, Nguyen L, Nogueira C, Habiby R, Medeiros-Neto G, Kopp P. 2001. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child. J Clin Endocrinol Metab 86:3962-3967.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3962-3967
    • Congdon, T.1    Nguyen, L.2    Nogueira, C.3    Habiby, R.4    Medeiros-Neto, G.5    Kopp, P.6
  • 10
    • 5444271023 scopus 로고    scopus 로고
    • Thyroid development and its disorders: Genetics and molecular mechanisms
    • De Felice M, Di Lauro R. 2004. Thyroid development and its disorders: Genetics and molecular mechanisms. Endocr Rev 25:722-746.
    • (2004) Endocr Rev , vol.25 , pp. 722-746
    • De Felice, M.1    Di Lauro, R.2
  • 12
    • 0033306083 scopus 로고    scopus 로고
    • A search for the possible molecular mechanisms of thyroid dysgenesis: Sex ratios and associated malformations
    • Devos H, Rodd C, Gagne N, Laframboise R, Van Vliet G. 1999. A search for the possible molecular mechanisms of thyroid dysgenesis: Sex ratios and associated malformations. J Clin Endocrinol Metab 84:2502-2506.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2502-2506
    • Devos, H.1    Rodd, C.2    Gagne, N.3    Laframboise, R.4    Van Vliet, G.5
  • 13
    • 35848943297 scopus 로고    scopus 로고
    • Prevalence of minor musculoskeletal anomalies in children with congenital hypothy- roidism
    • El Kholy M, Fahmi ME, Nassar AE, Selim S, Elsedfy HH. 2007. Prevalence of minor musculoskeletal anomalies in children with congenital hypothy- roidism. Horm Res 68:272-275.
    • (2007) Horm Res , vol.68 , pp. 272-275
    • El Kholy, M.1    Fahmi, M.E.2    Nassar, A.E.3    Selim, S.4    Elsedfy, H.H.5
  • 14
    • 0023117119 scopus 로고
    • Congenital hypothyroidism: Increased risk of neonatal morbidity results in delayed treatment
    • Fernhoff P, Brown AEL. 1987. Congenital hypothyroidism: Increased risk of neonatal morbidity results in delayed treatment. Lancet 1:490-491.
    • (1987) Lancet , vol.1 , pp. 490-491
    • Fernhoff, P.1    Brown, A.E.L.2
  • 16
    • 0024406410 scopus 로고
    • Johanson-Blizzard syndrome- Clinical and pathological findings in 2 sibs
    • Gould NS, Paton JB, Bennett AR. 1989. Johanson-Blizzard syndrome- Clinical and pathological findings in 2 sibs. Am J Med Genet 33:194-199.
    • (1989) Am J Med Genet , vol.33 , pp. 194-199
    • Gould, N.S.1    Paton, J.B.2    Bennett, A.R.3
  • 17
    • 0023910764 scopus 로고
    • Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern-Ireland 1982-4
    • Grant DB, Smith I. 1988. Survey of neonatal screening for primary hypothyroidism in England, Wales, and Northern-Ireland 1982-4. Br Med 296:1355-1358.
    • (1988) Br Med , vol.296 , pp. 1355-1358
    • Grant, D.B.1    Smith, I.2
  • 18
    • 0033504485 scopus 로고    scopus 로고
    • Phenotypic spectrum and management issues in Kabuki syndrome
    • Kawame H, Hannibal MC, Hudgins L, Pagon RA. 1999. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480-485.
    • (1999) J Pediatr , vol.134 , pp. 480-485
    • Kawame, H.1    Hannibal, M.C.2    Hudgins, L.3    Pagon, R.A.4
  • 20
    • 33748741885 scopus 로고    scopus 로고
    • Neonatal screening for congenital hypothy- roidism based on thyroxine, thyrotropin and thyroxine-binding globulin measurement: Potential and pitfalls
    • Kempers M, Lanting C, van Heijst A, van Trotsenburg A, Wiedijk B, de Vijlder J, Vulsma T. 2006b. Neonatal screening for congenital hypothy- roidism based on thyroxine, thyrotropin and thyroxine-binding globulin measurement: Potential and pitfalls. J Clin Endocrinol Metab 91: 3370-3376.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 3370-3376
    • Kempers, M.1    Lanting, C.2    van Heijst, A.3    van Trotsenburg, A.4    Wiedijk, B.5    de Vijlder, J.6    Vulsma, T.7
  • 21
    • 14844309419 scopus 로고    scopus 로고
    • High prevalence of extrathyroid malformations in a cohort ofBrazilian patients with permanent primary congenital hypothyroidism
    • Kreisner E, Neto EC, Gross JL. 2005. High prevalence of extrathyroid malformations in a cohort ofBrazilian patients with permanent primary congenital hypothyroidism. Thyroid 15:165-169.
    • (2005) Thyroid , vol.15 , pp. 165-169
    • Kreisner, E.1    Neto, E.C.2    Gross, J.L.3
  • 23
    • 12644283550 scopus 로고    scopus 로고
    • Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis
    • Lapi P, Macchia P, Chiovato L, Biffali E, Moschini L, Larizza D, Baserga M, Pinchera A, Fenzi G, Di Lauro R. 1997. Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. Thyroid 7:387.
    • (1997) Thyroid , vol.7 , pp. 387
    • Lapi, P.1    Macchia, P.2    Chiovato, L.3    Biffali, E.4    Moschini, L.5    Larizza, D.6    Baserga, M.7    Pinchera, A.8    Fenzi, G.9    Di Lauro, R.10
  • 24
    • 0023948591 scopus 로고
    • Congenital abnormalities and congenital hypothyroidism
    • Lazarus JH, Hughes IA. 1988. Congenital abnormalities and congenital hypothyroidism. Lancet 2:52.
    • (1988) Lancet , vol.2 , pp. 52
    • Lazarus, J.H.1    Hughes, I.A.2
  • 25
    • 0023153756 scopus 로고
    • Predictive value of minor anomalies. I. Association with major malformations
    • Leppig K, Werler M, Cann C, Cook C, Holmes L. 1987. Predictive value of minor anomalies. I. Association with major malformations. J Pediatr 110:531-537.
    • (1987) J Pediatr , vol.110 , pp. 531-537
    • Leppig, K.1    Werler, M.2    Cann, C.3    Cook, C.4    Holmes, L.5
  • 27
    • 0027459381 scopus 로고
    • Congenital hypothyroidism-The Riyadh-Military-Hospital experience
    • Majeed-Saidan MA, Joyce B, Khan M, Hamam HD. 1993. Congenital hypothyroidism-The Riyadh-Military-Hospital experience. Clin Endocrinol 38:191-195.
    • (1993) Clin Endocrinol , vol.38 , pp. 191-195
    • Majeed-Saidan, M.A.1    Joyce, B.2    Khan, M.3    Hamam, H.D.4
  • 28
    • 58149446009 scopus 로고
    • Congenital anomalies in the newborn infant, including minor variations
    • Marden P, Smith D, McDonald M. 1964. Congenital anomalies in the newborn infant, including minor variations. J Pediatr 64:357-371.
    • (1964) J Pediatr , vol.64 , pp. 357-371
    • Marden, P.1    Smith, D.2    McDonald, M.3
  • 29
    • 0033531958 scopus 로고    scopus 로고
    • Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation
    • Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K, Kuroki Y. 1999. Young-Simpson syndrome: Further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. Am J Med Genet 84:8-11.
    • (1999) Am J Med Genet , vol.84 , pp. 8-11
    • Masuno, M.1    Imaizumi, K.2    Okada, T.3    Adachi, M.4    Nishimura, G.5    Ishii, T.6    Tachibana, K.7    Kuroki, Y.8
  • 33
    • 15944401335 scopus 로고    scopus 로고
    • High incidence of malformation syndromes in a series of 1,073 children with cancer
    • Merks J, Caron H, Hennekam R. 2005. High incidence of malformation syndromes in a series of 1,073 children with cancer. Am J Med Genet Part A 15:132-143.
    • (2005) Am J Med Genet , vol.15 , Issue.PART A , pp. 132-143
    • Merks, J.1    Caron, H.2    Hennekam, R.3
  • 36
    • 0021903783 scopus 로고
    • Incidence ofcongenital malformations in the newborn, particularly minor abnormalities
    • Merlob P, Papier C, Klingberg M, Reisner S. 1985. Incidence ofcongenital malformations in the newborn, particularly minor abnormalities. Prog Clin Biol Res 163C:51-55.
    • (1985) Prog Clin Biol Res , vol.163 C , pp. 51-55
    • Merlob, P.1    Papier, C.2    Klingberg, M.3    Reisner, S.4
  • 38
    • 0023880721 scopus 로고    scopus 로고
    • New England Congenital Hypothyroidism Collaborative. 1988. Congenital concomitants of infantile hypothyroidism. J Pediatr 112:244-247.
    • New England Congenital Hypothyroidism Collaborative. 1988. Congenital concomitants of infantile hypothyroidism. J Pediatr 112:244-247.
  • 40
    • 0030839127 scopus 로고    scopus 로고
    • Absence ofmutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis
    • Perna M, Civitareale D, De Filippis V, Sacco M, Cisternino C, Tassi V. 1997. Absence ofmutations in the gene encoding thyroid transcription factor-1 (TTF-1) in patients with thyroid dysgenesis. Thyroid 7:377-381.
    • (1997) Thyroid , vol.7 , pp. 377-381
    • Perna, M.1    Civitareale, D.2    De Filippis, V.3    Sacco, M.4    Cisternino, C.5    Tassi, V.6
  • 41
    • 0030991994 scopus 로고    scopus 로고
    • Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992
    • Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. 1997. Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992. Am J Med Genet 71:29-32.
    • (1997) Am J Med Genet , vol.71 , pp. 29-32
    • Roberts, H.E.1    Moore, C.A.2    Fernhoff, P.M.3    Brown, A.L.4    Khoury, M.J.5
  • 42
    • 0023922276 scopus 로고
    • Congenital hypothyroidism- -Increased incidence in Asian families
    • Rosenthal M, Addison GM, Price DA. 1988. Congenital hypothyroidism- -Increased incidence in Asian families. Arch Dis Child 63:790-793.
    • (1988) Arch Dis Child , vol.63 , pp. 790-793
    • Rosenthal, M.1    Addison, G.M.2    Price, D.A.3
  • 44
    • 0026723020 scopus 로고
    • Congenital anomalies concomitant with persistent primary congenital hypothyroidism
    • Siebner R, Merlob P, Kaiserman I, Sack J. 1992. Congenital anomalies concomitant with persistent primary congenital hypothyroidism. Am J Med Genet 44:57-60.
    • (1992) Am J Med Genet , vol.44 , pp. 57-60
    • Siebner, R.1    Merlob, P.2    Kaiserman, I.3    Sack, J.4
  • 48
    • 66849123022 scopus 로고    scopus 로고
    • Vulsma T, de Vijlder J. 2006. Genetic defects in thyroid hormone synthesis and action: Defects in thyroid hormone synthesis. In: DeGroot LJ, Jameson JL, editors. Endocrinology. 5th edition. 2. Chapter 112. Philadelphia: Elsevier Saunders. p 2201 -2213.
    • Vulsma T, de Vijlder J. 2006. Genetic defects in thyroid hormone synthesis and action: Defects in thyroid hormone synthesis. In: DeGroot LJ, Jameson JL, editors. Endocrinology. 5th edition. Vol. 2. Chapter 112. Philadelphia: Elsevier Saunders. p 2201 -2213.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.