［1］Giedion A. Tricho-rhino-phalangeal syndrome［J］. Helv Paediatr Acta, 1966, 21(5):475-485.

［2］Ciedion A, Burdea M, Fruchter Z, Meloni T, Trosc V. Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases［J］. Helv Paediatr Acta, 1973, 28(3): 249-259.

［3］Vaccaro M, Cuarneri C, Blandino A. Trichorhinophalangeal syndrome［J］. J Am Acad Dermatol, 2005, 53(5): 858-860.

［4］Ludecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, et al. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8［J］. Hum Genet, 1999, 105(6): 619-628.

［5］Ludecke HJ, Wagner MJ, Nardmann J, La Pillo B, Parrish JE, Willems PJ, et al. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome［J］. Hum Mol Genet, 1995, 4(1): 31-36.

［6］Ludecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, et al. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III［J］. Am J Hum Genet, 2001, 68(1): 81-91.

［7］Paterson A, Thomas PS. Abnormal modeling of the humeral head in the tricho-rhino-phalangeal syndrome: A new radiological observation［J］. Australas Radiol, 2000, 44(3), 325-327.

［8］Sarafoglou K, Moassesfar S, Miller BS. Improved growth and bone mineral density in type 1 trichorhinophalangeal syndrome in response to growth hormone therapy［J］. Clin Genet, 2010, 78(6): 591-593.