Erratum to "Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome" (American Journal of Medical Genetics, Part A 146A, (1598-1604) DOI 10.1002/ajmg.a.32348);Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 12, 2008, Pages 1598-1604

  Stagi, Stefano ^a   Bindi, Giuseppe ^a   Galluzzi, Fiorella ^a   Lapi, Elisabetta ^a   Salti, Roberto ^a   Chiarelli, Francesco ^b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

Author keywords

Bone metabolism; Bone status; Growth hormone deficiency; Short stature; Trichorhinophalangeal syndrome

Indexed keywords

GROWTH HORMONE;

ADULT; ARTICLE; BONE MASS; BONE METABOLISM; CASE REPORT; CHROMOSOME DISORDER; EPIPHYSIS; FACE MALFORMATION; GENETIC DISORDER; GROWTH HORMONE DEFICIENCY; HAIR DISEASE; HUMAN; MALE; NOSE MALFORMATION; PHILTRUM; PRIORITY JOURNAL; SKELETON MALFORMATION; TRICHORHINOPHALANGEAL SYNDROME;

EID: 44849133961     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32629     Document Type: Erratum

References (36)

1. Bachrach LK. 2001. Acquisition of optimal bone mass in childhood and adolescence. Trends Endocrinol Metab 12:22-28.
2. Booth CW, Maurer WF. 1981. De novo 9:11 translocation in a sporadic case of trichorhinophalangeal (I) syndrome. Pediatr Res 15:559.
3. Buhler EM, Buhler UK, Stalder GR, Jani L, Jurik LP. 1980. Chromosome deletion and multiple cartilaginous exostoses. Eur J Pediat 133:163-166.
4. Buhler EM, Buhler UK, Beutler C, Fessler R. 1987. A final word on the trichorhinophalangeal syndromes. Clin Genet 31:273-275.
5. Dattani M, Preece M. 2004. Growth hormone deficiency and related disorders: Insights into causation, diagnosis, and treatment. Lancet 363:1977-1987.
6. Dunbar JD, Sussman MD, Aiona MD. 1995. Hip pathology in the trichorhinophalangeal syndrome. J Paediatr Orthop 15:381-385.
7. Falcini F, Bindi G, Ermini M, Galluzzi F, Poggi G, Rossi S, Masi L, Cimaz R, Brandi ML. 2000. Comparison of quantitative calcaneal ultrasound and dual energy X-ray absorptiometry in the evaluation of osteoporotic risk in children with chronic rheumatic diseases. Calcif Tissue Int 67:19-23.
8. Falcini F, Bindi G, Simonini G, Stagi S, Galluzzi F, Masi L, Cimaz R. 2003. Bone status evaluation with calcanear ultrasound in children with chronic rheumatic diseases. A one year follow-up study. J Rheumatol 30:179-184.
9. Felman AH, Frias JL. 1977. Trichorhinophalangeal syndrome - Study of 16 patients in one family. Am J Roentgen 129:631-638.
10. Finkenstedt G, Gasser RW, Höfle G, Watfah C, Fridrich L. 1997. Effects of growth hormone (GH) replacement on bone metabolism and mineral density in adult onset of GH deficiency: Results of a double-blind placebo-controlled study with open follow-up. Eur J Endocrinol 136:282-289.
11. GH Research Society. 2000. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: Summary statement of the GH Research Society. J Clin Endocrinol Metab 85:3990-3993.
12. Giedion A. 1967. Cone shaped epiphyses of the hands and their diagnostic value. The tricho-rhino-phalangeal syndrome. Ann Radiol 10:322-329.
13. Giedion A. 1998. 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 28:751-758.
14. Giedion A, Burdea M, Fruchter Z, Meloni T, Trosc V. 1973. Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv Paediat Acta 28:249-259.
15. Gluer CC. 1997. Quantitative ultrasound techniques for the assessment of osteoporosis: Expert agreement on current status. The International Quantitative Ultrasound Consensus Group. J Bone Miner Res 12:1280-1288.
16. Hamers A, Jongbloet P, Peeters G, Fryns JP, Geraedts J. 1990. Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion. Eur J Pediat 149:618-620.
17. Kelnar CJH. 2003. Growth hormone therapy for syndromic disorders. Clin Endocrinol 59:12-21.
18. Khaw KT, Reeve J, Luben R, Bingham S, Welch A, Wareham N, Oakes S, Day N. 2004. Prediction of total and hip fracture risk in men and women by quantitative ultrasound of the calcaneus: EPIC-Norfolk prospective population study. Lancet 363:197-202.
19. Kunath M, Lüdecke HJ, Vortkampa A. 2002. Expression of Trps1 during mouse embryonic development. Gene Expr Patterns 2:119-122.
20. Lalevic-Vasic BM, Nikolic M, Polic DJ. 1994. Study of hair in type I tricho-rhino-phalangeal syndrome. Ann Dermatol Venereol 121:618-622.
21. Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B. 2001. Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet 68:81-91.
22. Malik TH, Von Stechow D, Bronson RT, Shivdasani RA. 2002. Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes. Mol Cell Biol 22:8592-8600.
23. Mandel SH, Moreland E, Rosenfeld RG, Gargosky SE. 1997. The effect of GH therapy on the immunoreactive forms and distribution of IGFBP-3, IGF-1, the acid-labile subunit, and growth rate in GH-deficient children. Endocrine 7:351-360.
24. Momeni P, Glockner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal A, Horsthemke B, Ludecke HJ. 2000. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type 1. Nature Genet 24:71-74.
25. Mora S, Gilsanz V. 2003. Establishment of peak bone mass. Endocrinol Metab Clin N Am 32:39-63.
26. Murdoch JL. 1969. Tricho-rhino-phalangeal dysplasia with possible autosomal dominant transmission. Birth Defects Orig Art Ser V (2):218-220.
27. Naselli A, Vignolo M, Di Battista E, Papale V, Aicardi G, Becchetti S, Toma P. 1988. Trichorhinophalangeal syndrome type 1 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 28:851-855.
28. Porter RW, Miller CG, Grainger D, Palmer SB. 1990. Prediction of hip fracture in elderly women: A prospective study. Br Med J 301:638-641.
29. Rahim A, Holmes SJ, Adams JE, Shalet SM. 1998. Long-term change in the bone mineral density of adults with adult onset growth hormone (GH) deficiency in response to short or long-term GH replacement therapy. Clin Endocrinol 48:463-469.
30. Riedl S, Giedion A, Schweitzer K, Mullner-Eidenbock A, Grill F, Frisch H, Ludecke HJ. 2004. 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 Part A 131A:200-203.
31. Riggs BL, Khosla S, Melton LJ III. 1999. The assembly of the adult skeleton during growth and maturation: Implications for senile osteoporosis. J Clin Invest 104:671-672.
32. Stewart A, Reid DM, Porter RW. 1994. Broadband ultrasound attenuation and dual energy X-ray absorptiometry in patients with hip fractures: Which technique discriminates fracture risk. Calcif Tissue Int 54:466-469.
33. Sugiura Y. 1978. Tricho-rhino-phalangeal syndrome associated with perthes-disease-like bone change and spondylolistesis. Jpn J Hum Genet 23:23-30.
34. Turner CH, Peacock M, Timmerman L, Neal JM, Johnson CC Jr. 1995. Calcaneal ultrasonic measurements discriminate hip fracture independently of bone mass. Osteoporos Int 5:130-135.
35. Wunsche K, Wunsche B, Fahnrich H, Mentzel HJ, Vogt S, Abendroth K, Kaiser WA. 2000. Ultrasound bone densitometry of the os calcis in children and adolescents. Calcif Tissue Int 67:349-355.
36. Yamamoto Y, Oguro N, Miyao M, Yanagisawa M. 1989. Trichorhinophalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13. Am J Med Genet 32:133-135.