Growth hormone treatment in a child with Williams-Beuren syndrome: A case report

European Journal of Pediatrics

Volumn 158, Issue 6, 1999, Pages 451-454

  Kuijpers, G M C ^a   De Vroede, M ^a   Knol, H E ^b   Jansen, M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Clinical Genetics Center Utrecht   (Netherlands)

Author keywords

Growth hormone insulin like growth factor I axis; Growth hormone deficiency; Williams Beuren syndrome

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN C;

ARTICLE; CASE REPORT; COMORBIDITY; DISEASE ASSOCIATION; GROWTH HORMONE DEFICIENCY; HORMONAL THERAPY; HUMAN; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; TREATMENT OUTCOME; WILLIAMS BEUREN SYNDROME;

CHILD, PRESCHOOL; GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; WILLIAMS SYNDROME;

EID: 0033006870     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051118     Document Type: Article

References (21)

1. 1. Beuren AJ, Apitz J, Harmjanz D (1962) Supravalvular aortic stenosis in association with mental retardation and certain facial appearance. Circulation 26:1235-1240
2. 2. Burn J (1986) Williams syndrome. J Med Genet 23:389-395
3. 3. Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5:11-16
4. 4. Gaylinn BD, Kap-Herr C von, Golden WL, Thorner MO (1994) Assignment of the human growth hormone-releasing hormone receptor gene (GHRHR) to 7p14 by in situ hybridization. Genomics 19:193-195
5. 5. Greenberg F (1990) Williams syndrome professional symposium. Am J Med Genet Suppl 6:85-88
6. 6. Greulich and Pyle. Radiographic atlas of skeletal development of the hand and wrist. Stanford University Press, Stanford, California
7. 7. Grimm T, Wesselhoeft H (1980) Zur Genetik des Williams-Beuren Syndroms und der isolierten Form der supravalvulaeren Aortenstenose (Untersuchungen von 128 Familien). Z Kardiol 69:168-172
8. 8. Hirota H, Matsuoka R, Kimura M, Imamura S, Joh OK, Ando M, Takao A, Momma K (1996) Molecular cytogenetic diagnosis of Williams syndrome. Am J Med Genet 64:473-477
9. 9. Jernigan TL, Bellugi U (1990) Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Arch Neurol 47:529-533
10. 10. Jones KL (1990) Williams syndrome: a historical perspective of its evolution, natural history, and etiology. Am J Med Genet 6:89-96
11. 11. Kotzot D, Bernasconi F, Brecevic L, Robinson WP, Kiss P, Kosztolanyi G, Lurie IW, Superti Furga A, Schinzel A (1995) Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Fur J Pediatr 154:477-482
12. 12. Matos V, Melle v G, Boulat O, Markert M, Bachmann C, Guignard JP (1997) Urinary phosphate/creatinine, calcium/ creatinine, and magnesium/creatinine ratios in a healthy pediatric population. J Pediatr 131:252-257
13. 13. Mc Kusick VA (1994) Mendelian inheritance in man: a catalog of human genes and genetic disorders, 11th edn. Johns Hopkins University Press, Baltimore
14. 14. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL (1988) Natural history of Williams syndrome: physical characteristics. J Pediatr 113:318-326
15. 15. Pagon RA, Bennett FC, LaVeck B, Stewart KB, Johnson J (1987) Williams syndrome: features in late childhood and adolescence. Pediatrics 80:85-91
16. 16. Pankau R, Partsch CJ, Gosch A, Opperman HC, Wessel A (1992) Statural growth in Williams-Beuren syndrome. Eur J Pediatr 151:751-755
17. 17. Parkin JM (1974) Incidence of growth hormone deficiency. Arch Dis Child 49:904-905
18. 18. Partsch CJ, Pankau R, Blum WF, Gosch A, Wessel A (1994) Hormonal regulation in children and adults with Williams-Beuren syndrome. Am J Med Genet 51:251-257
19. 19. Ferez Jurado LA, Peoples R, Kaplan P, Hamel BCJ, Francke U (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent of origin effects on growth. Am J Hum Genet 59:781-792
20. 20. Rosenfeld RG, Albertsson-Wikland K, Cassorla F, Frasier SD, Hasegawa Y, Hintz RL, Lafranchi S, Lippe B, Loriaux L, Melmed S, Preece MA, Ranke MB, Reiter EO, Rogol AD, Underwood LE, Werther GA (1995) Diagnostic controversy: the diagnosis of childhood growth hormone deficiency revisited. J Clin Endocrinol Metab 80:1532-1540
21. 21. Spadoni GL, Colloridi V, Finocchi G, Manca Bitti ML, Chini L, Boscherini B (1983) Williams Syndrome and growth hormone deficiency (letter). J Pediatr 102:640