Premature thelarche in Coffin-Siris syndrome [1]

American Journal of Medical Genetics

Volumn 121 A, Issue 2, 2003, Pages 174-176

  Brunetti Pierri, Nicola ^a   Esposito, Valentina ^a   Salerno, Mariacarolina ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD DEVELOPMENT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COFFIN SIRIS SYNDROME; ESTRADIOL BLOOD LEVEL; FACIES; FEMALE; FOLLITROPIN BLOOD LEVEL; HAND RADIOGRAPHY; HUMAN; INTELLIGENCE QUOTIENT; LETTER; LUTEINIZING HORMONE BLOOD LEVEL; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL;

BREAST; CORPUS CALLOSUM; FACIES; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; MENTAL RETARDATION; NAILS, MALFORMED; SYNDROME;

EID: 0043195890     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (18)

1. 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.
2. Coffin GS, Siris E. 1970. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433-439.
3. DeBassio WA, Kemper TL, Knoefel JE. 1985. Coffin-Siris syndrome. Neuropathologic findings. Arch Neurol 42(4):350-353.
4. 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.
5. Delvaux V, Moerman P, Fryns JP. 1998. Diaphragmatic hernia in the Coffin-Siris syndrome. Genet Couns 9(1):45-50.
6. 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.
7. Greulich W, Pyle SI. 1959. Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford, CA: Stanford University Press.
8. 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.
9. Imaizumi K, Nakamura M, Masumo M, Makita Y, Kuroki Y. 1995. Hypoglicemia in Coffin-Siris syndrome. Am J Med Genet 59:49-50.
10. Levy P, Baraitser M. 1991. Coffin-Siris syndrome. J Med Genet 28:338-341.
11. 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.
12. Marshall WA, Tanner JM. 1969. Variations in pattern of pubertal changes in girls. Arch Dis Child 44:291-303.
13. 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.
14. 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.
15. 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.
16. 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.
17. 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.
18. Tunnessen WW, McMillan JA, Levin MB. 1978. The Coffin-Siris syndrome. Am J Dis Child 132(4):393-395.