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Premature thelarche in Coffin‐Siris syndrome

2003; Wiley; Volume: 121A; Issue: 2 Linguagem: Inglês

10.1002/ajmg.a.20158

1552-4833

Nicola Brunetti‐Pierri, Valentina Esposito, Mariacarolina Salerno,

Hypothalamic control of reproductive hormones

American Journal of Medical Genetics Part AVolume 121A, Issue 2 p. 174-176 Research Letter Premature thelarche in Coffin-Siris syndrome Nicola Brunetti-Pierri, Nicola Brunetti-Pierri Department of Pediatrics, Federico II University of Naples, Naples, ItalySearch for more papers by this authorValentina Esposito, Valentina Esposito Department of Pediatrics, Federico II University of Naples, Naples, ItalySearch for more papers by this authorMariacarolina Salerno, Corresponding Author Mariacarolina Salerno [email protected] Department of Pediatrics, Federico II University of Naples, Naples, ItalyDepartment of Pediatrics, Federico II University, Via S. Pansini 5, I-80131, Naples, Italy.Search for more papers by this author Nicola Brunetti-Pierri, Nicola Brunetti-Pierri Department of Pediatrics, Federico II University of Naples, Naples, ItalySearch for more papers by this authorValentina Esposito, Valentina Esposito Department of Pediatrics, Federico II University of Naples, Naples, ItalySearch for more papers by this authorMariacarolina Salerno, Corresponding Author Mariacarolina Salerno [email protected] Department of Pediatrics, Federico II University of Naples, Naples, ItalyDepartment of Pediatrics, Federico II University, Via S. Pansini 5, I-80131, Naples, Italy.Search for more papers by this author First published: 08 April 2003 https://doi.org/10.1002/ajmg.a.20158Citations: 9Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Bonioli E, Palmieri A, Bertola A, Bellini C. 1995. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome. Genet Couns 6: 309–312. Coffin GS, Siris E. 1970. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119: 433–439. DeBassio WA, Kemper TL, Knoefel JE. 1985. Coffin-Siris syndrome. Neuropathologic findings. Arch Neurol 42(4): 350–353. Della Manna T, Setian N, Damiani D, Kuperman H, Dichtchekenian V. 2002. Premature thelarche: Identification of clinical and laboratory data for the diagnosis of true precocious puberty. Rev Hosp Clin Fac Med Sao Paulo 57: 49–54. Delvaux V, Moerman P, Fryns JP. 1998. Diaphragmatic hernia in the Coffin-Siris syndrome. Genet Couns 9(1): 45–50. Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J. 2001. Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study. Am J Med Genet 99: 1–7. Greulich W, Pyle SI. 1959. Radiographic atlas of skeletal development of the hand and wrist, 2nd ed. Stanford, CA: Stanford University Press. Imai T, Hattori H, Miyazaki M, Higuchi Y, Adachi S, Nakahata T. 2001. Dandy-Walker variant in Coffin-Siris syndrome. Am J Med Genet 100(2): 152–155. Imaizumi K, Nakamura M, Masumo M, Makita Y, Kuroki Y. 1995. Hypoglicemia in Coffin-Siris syndrome. Am J Med Genet 59: 49–50. Levy P, Baraitser M. 1991. Coffin-Siris syndrome. J Med Genet 28: 338–341. Lucaya J, Garcia-Conesa JA, Bosch-Banyeras JM, Pons-Peradejordi G. 1981. The Coffin-Siris syndrome. A report of four cases and review of the literature. Pediatr Radiol 11(1): 35–38. Marshall WA, Tanner JM. 1969. Variations in pattern of pubertal changes in girls. Arch Dis Child 44: 291–303. McGhee EM, Klump CJ, Bitts SM, Cotter PD, Lammer EJ. 2000. Candidate region for Coffin-Siris syndrome at 7q32-34. Am J Med Genet 93: 241–243. McPherson EW, Laneri G, Clemens MM, Kochmar SJ, Surti U. 1997. Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome. Am J Med Genet 71: 430–433. Pasquino AM, Pucarelli I, Passeri F, Segni M, Mancini MA, Municchi G. 1995. Progression of premature thelarche to central precocious puberty. J Pediatr 126(1): 11–14. Pescovitz OH, Hench KD, Barnes KM, Loriaux DL, Cutler GB. 1988. Premature thelarche and central precocious puberty: The relationship between clinical presentation and the gonadotropin response to luteinizing hormone-releasing hormone. J Clin Endocrinol Metab 67(3): 474–479. Rabe P, Haverkamp F, Emons D, Rosskamp R, Zerres K, Passarge E. 1991. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the Coffin-Siris syndrome. Am J Med Genet 41(3): 350–354. Tunnessen WW, McMillan JA, Levin MB. 1978. The Coffin-Siris syndrome. Am J Dis Child 132(4): 393–395. Citing Literature Volume121A, Issue230 August 2003Pages 174-176 ReferencesRelatedInformation