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Case Reports

Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation

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Pages 619-622 | Received 29 Aug 2013, Accepted 04 Dec 2013, Published online: 06 Feb 2014

References

  • Momeni P, Glöckner G, Schmidt O, et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000;24:71–74
  • Lüdecke H-J, Schaper J, Meinecke P, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet. 2001;68:81–91
  • Hilton MJ, Sawyer JM, Gutiérrez L, Hogart A, Kung TC, Wells DE. Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. J Hum Genet. 2002;47:103–106
  • Lu FL, Hou JW, Tsai WS, Teng RJ, Yau KI, Wang TR. Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome. J Formos Med Assoc. 1997;96:217–221
  • Yáñez S, Hernández-Vicente I, Armijo M. Tricho-rhino-phalangeal syndrome. Int J Dermatol. 1992;31:706–709
  • Wilson WG, Wyandt HE, Shah H. Interstitial deletion of 8q. Am J Dis Child. 1983;137:444–448
  • Rossi A, Devirgiliis V, Panasiti V, et al. Missense mutation in exon 7 of TRPS1 gene in an Italian family with a mild form of tricho-rhino-phalangeal syndrome type I. Br J Dermatol. 2007;157:1021–1024
  • Ramos FJ, McDonald-McGinn DM, Emanuel BS, Zackai EH. Tricho-rhino-phalangeal syndrome type II (Langer–Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion. Am J Med Genet. 1992;44:790–794
  • Sanna-Cherchi S, Caridi G, Weng PL, et al. Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32–33. Am J Hum Genet 2007;80:539–549
  • Sanna-Cherchi S, Caridi G, Weng PL, et al. Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol. 2007;22:1675–1684
  • Weber S, Moriniere V, Knüppel T, et al. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006;17:2864–2870
  • Gai Z, Zhou G, Itoh S, et al. Trps1 functions downstream of Bmp7 in kidney development. J Am Soc Nephrol. 2009;20:2403–2411
  • Riedl S, Giedion A, Schweitzer K, et al. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency. Am J Med Genet A. 2004;131:200–203
  • Stagi S, Bindi G, Galluzzi F, Lapi E, Salti R, Chiarelli F. Partial growth hormone deficiency and changed bone quality and mass in type I tricho-rhino-phalangeal syndrome. Am J Med Genet A. 2008;146A:1598–1604
  • Naselli A, Vignolo M, Di Battista E, et al. Tricho-rhino-phalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation. Pediatr Radiol. 1998;28:851–855
  • Kantaputra P, Miletich I, Lüdecke HJ, et al. Tricho-rhino-phalangeal syndrome with supernumerary teeth. J Dent Res. 2008;87:1027–1031
  • Howell CJ, Wynne-Davies R. The tricho-rhino-phalangeal syndrome. A report of 14 cases in 7 kindreds. J Bone Joint Surg Br. 1986;68:311–314
  • Lemke T, Pirsig W. The tricho-rhino-phalangeal syndrome. Laryngol Rhinol Otol (Stuttg) 1978;57:1112–1115
  • Braga D, Manganoni AM, Gavazzoni R, Pasolini G, De Panfilis G. A case of trichorhinophalangeal syndrome, type I. Cutis. 1994;53:92–94
  • Graybeal LS, Baum VC, Durieux ME. Anaesthetic management of a patient with tricho-rhino-phalangeal syndrome. Eur J Anaesthesiol. 2005;22:400–402

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