The association of Klinefelter syndrome and multiple pterygium syndrome: An unusual presentation

Turkish Journal of Pediatrics

Volumn 55, Issue 5, 2013, Pages 559-563

  Nur, Banu Güzel ^a   Altiok Clark, Özden ^a   Toylu, Asli ^a   Lüleci, Güven ^a   Mihçi, Ercan ^a  

^a AKDENIZ UNIVERSITY   (Turkey)

Author keywords

Karyotype analysis; Klinefelter syndrome; Multiple pterygium syndrome; Short stature

Indexed keywords

CALCIUM; GONADOTROPIN; PARATHYROID HORMONE; PHOSPHORUS; TESTOSTERONE; VITAMIN D;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; DISEASE ASSOCIATION; DUAL ENERGY X RAY ABSORPTIOMETRY; HIP DISLOCATION; HUMAN; KARYOTYPING; KLINEFELTER SYNDROME; MALE; MULTIPLE PTERYGIUM SYNDROME; OSTEOPENIA; OSTEOPOROSIS; PARATHYROID HORMONE BLOOD LEVEL; PHYSICAL EXAMINATION; RADIOGRAPHY; SCHOOL CHILD; WEBBED NECK; WECHSLER INTELLIGENCE SCALE; COMPLICATION; CONGENITAL SKIN DISEASE; GENETICS; MALIGNANT HYPERTHERMIA; MULTIPLE MALFORMATION SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; HUMANS; KARYOTYPING; KLINEFELTER SYNDROME; MALE; MALIGNANT HYPERTHERMIA; SKIN ABNORMALITIES;

EID: 84890494627     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Nussbaum RL. Clinical cytogenetics: disorders of the autosomes and sex chromosomes. In: Nussbaum RL, McInnes RR, Willard HF (eds). Thompson and Thompson Genetics in Medicine (6th ed). Vol. 1. London: WB Saunders Co; 2001: 173-174.
2. Shen Z, Chun Zou C, Qiang Shang S, Wen Jiang K. Down-Klinefelter syndrome (48, XXY,+21) in a child with congenital heart disease: case report and literature review. Intern Med 2012; 51: 1371-1374.
3. Frühmesser A, Kotzot D. Chromosomal variants in Klinefelter syndrome. Sex Dev 2011; 5: 109-123.
4. Prontera P, Sensi A, Merlo L, Garani G, Cocchi G, Calzolari E. Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form? Am J Med Genet A 2006; 140: 2227-2230.
5. McKeown CM, Harris R. An autosomic dominant multiple pterygium syndrome. J Med Genet 1988; 25: 96-103.
6. Carnevale A, Hernandez AL, de los Cobos L. Sindrome da pterygium familiar con probable transmission dominante ligada al cromosoma X. Rev Invest Clin 1973; 25: 237-244.
7. Gorlin RJ, Cohen MM, Hennekam RC. Chromosomal syndromes: common and/or well-known syndromes. Syndromes of the Head and Neck (4th ed). Oxford: Oxford University Press; 2001: 62-66.
8. Pashayan H, Dallaire L, MacLeod P. Bilateral aniridia, multiple webs and severe mental retardation in a 47, XXY-48, XXXY mosaic. Clin Genet 1973; 4: 125-129.
9. Madhuri V, Bose A, Danda S, Shivakumar S, Kirubakaran C, Seshadari MS. Chromosomes 6/7 translocation t(6:7) (q15;32) presenting as multiple pterygium syndrome. Indian Pediatr 2001; 38: 194-197.
10. Angle B, Hersh JH, Yen F, Verdi GD. XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype. Am J Med Genet 1997; 68: 7-11.
11. Lembet A, Oktem M, Yilmaz Z, Kaya U, Derbent M. Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome. Prenat Diagn 2003; 23: 728-730.
12. Sprouse C, Tosi L, Stapleton E, et al. Musculoskeletal anomalies in a large cohort of boys with 49, XXXXY. Am J Med Genet C Semin Med Genet 2013; 163: 44-49.
13. Moerman P, Fryns JP, Cornelis A, Bergmans G, Vandenberghe K, Lauweryns JM. Pathogenesis of the lethal multiple pterygium syndrome. Am J Med Genet 1990; 35: 415-421.
14. Hartwig NG, Vermeij-Keers C, Bruijn JA, van Groningen K, Ottervanger HP, Holm JP. Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia. Am J Med Genet 1989; 33: 537-541.
15. Hall JG. The lethal multiple pterygium syndromes. Am J Med Genet 1984; 174: 803-807.
16. Froster UG, Stallmach T, Wisser J, et al. Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet 1997; 68: 82-85.
17. Zeitoun O, Ketelsen UP, Wolff G, Müller CR, Korinthenberg R. Rare combination of Becker muscular dystrophy and Klinefelter's syndrome in one patient. Brain Dev 1997; 19: 359-361.
18. Fryns JP, Carels C, Schoenaers JH. Bilateral aplasia of the mandibular ramus and condyle in Klinefelter syndrome. Genet Couns 1996; 7: 74.
19. Matteini M, Cotrozzi G, Moggi A. Klinefelter's syndrome associated with idiopathic renal tubular acidosis. Rass Neurol Veg 1965; 19: 379-414.
20. Jebasingh F, Paul TV, Spurgeon R, Abraham S, Jacob JJ. Klinefelter's syndrome with renal tubular acidosis: impact on height. Singapore Med J 2010; 51: 24-26.
21. Rossodivita A, Colabucci F. Short stature in a patient with Klinefelter syndrome and growth hormone deficiency. Am J Med Genet 1994; 49: 244-246.
22. Baroncelli GI, Bertelloni S, Perri G, Saggese G. Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion. Hum Genet 1995; 95: 581-585.
23. Aksglaede L, Andersson AM, Jørgensen N, et al. Primary testicular failure in Klinefelter's syndrome: the use of bivariate luteinizing hormone-testosterone reference charts. Clin Endocrinol (Oxf) 2007; 2: 276-281.
24. Horowitz M, Wishart JM, O'Loughlin PD, Morris HA, Need AG, Nordin BE. Osteoporosis and Klinefelter's syndrome. Clin Endocrinol (Oxf) 1992; 36: 113-118.
25. Wada A, Fujii T, Takamura K, Yanagida H, Surijamorn P. Congenital dislocation of the patella. J Child Orthop 2008; 2: 119-123.