Abstract
Trichorhinophalangeal syndrome (TRP) is a group of rare genetic disorders with characteristic clinical and radiological features. In this case report we discuss the evolution of imaging features in hands in a Chinese boy diagnosed with TRP II (Langer–Giedion syndrome, LGS). This article ramifies the diagnostic value of serial hand radiograph in clinically suspected cases of TRP.
References
Giedion A. Das tricho-rhino-phalangeale syndrome. Helv Paediatr Acta. 1966;21:475–82.
Langer Jr LO. The thoracic pelvic phalangeal dystrophy. Birth Defects. 1969;5(4):55–64.
Hall BD, Langer LO, Giedion A, et al. Langer–Giedion syndrome. Birth Defects Orig Artic Ser. 1974;10:147–64.
Sugio Y, Kajii T. Ruvalcaba syndrome: autosomal dominant inheritance. Am J Med Genet. 1984;19(74):1–753.
Hunter A. Letter to the editor: ruvalcaba syndrome. Am J Med Genet. 1985;21:785–6.
Niikawa N, Kamei T. The Sugio-Kajii syndrome, proposed Tricho-Rhino-Phalangeal syndrome type 111. Am J Med Genet. 1986;24:759–60.
Piccione M, Niceta M, Antona V, et al. Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III. Am J Med Genet A. 2009;149A(8):1837–41.
Shin HT, Chang MW. Trichorhinophalangeal syndrome, type II (Langer–Giedion syndrome). Dermatol Online J. 2001;7:8.
Sybert VP. Genetic skin disorders. Chapter hair shaft abnormalities, syndromic. Trichorhinophalangeal syndrome. 2nd ed. Oxford University Press; 2010. p.225–228.
Giedion A. Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II. Pediatr Radiol. 1998;28:751–8.
Sugiura Y. Tricho-rhino-phalangeal syndrome associated with Perthes disease-like bone change and spondylolisthesis. Jinrui Idengaku Zasshi. 1978;23:23–30.
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(2):311–4.
Bauermeister S, Letts M. The orthopaedic manifestations of the Langer–Giedion syndrome. Orthop Rev. 1992;21:31–5.
Castriota A, Dallapiccola S. Abnormal skeletal phenotypes: from simple signs to complex diagnoses. Berlin: Springer; 2005.
Felman AH, Prias JL. The Trichorhinophalangeal syndrome: study of 16 patients in one family. Am J Roentgenol. 1977;129:631–8.
Guglielmi G, Van Kuijk C, Genant HK. Fundamentals of hand and wrist imaging. Berlin: Springer; 2001.
Murachi S, Nogami H, Oki T, Ogino T. Familial tricho-rhinophalangeal syndrome type II. Clin Genet. 1981;19:149–55.
Turleau C, Chavin-Colin F, de Grouchy J, Maroteaux P, Rivera H. Langer–Giedion syndrome with and without del 8q. assignment of critical segment to 8q23. Hum Genet. 1982;62:183–7.
Lüdecke HJ, Johnson C, Wagner MJ, et al. Molecular definition of the shortest region of deletion overlap in the Langer–Giedion syndrome. Am J Hum Genet. 1991;49(6):1197–206.
Declare
The authors declare that they have no conflicts of interest.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Tsang, W.K., Yang, K.W.M. & Fong, C.M. Langer–Giedion syndrome: the evolving imaging features in hands and beyond. Skeletal Radiol 43, 251–255 (2014). https://doi.org/10.1007/s00256-013-1726-0
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00256-013-1726-0