The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria

Journal of Medical Genetics

Volumn 36, Issue 11, 1999, Pages 837-842

  Price, S M ^a   Stanhope, R ^b   Garrett, C ^c   Preece, M A ^b   Trembath, R C ^d  

^a NORTHAMPTON GENERAL HOSPITAL NHS TRUST   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c NORTHWICK PARK HOSPITAL   (United Kingdom)

^d LEICESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

Silver Russell syndrome; Uniparental disomy of chromosome 7

Indexed keywords

ADOLESCENT; ADULT; ARTHROGRYPOSIS; ARTICLE; BIRTH WEIGHT; CAMPTODACTYLY; CHILD; CHROMOSOME 7; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; EDUCATION; FACE DYSMORPHIA; HUMAN; HYPOSPADIAS; INGUINAL HERNIA; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FETAL GROWTH RETARDATION; HUMANS; INFANT; MALE; SYNDROME;

EID: 0032758850     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotrophins. Pediatrics 1953;12:368-75.
2. Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms and other anomalies. Proc R Soc Med 1954;47:1040-4.
3. Silver HK. Asymmetry, short stature, and variations in sexual development. Am J Dis Child 1964;107:495-513.
4. Tanner JM, Ham TJ. Low birthweight dwarfism with asymmetry (Silver's syndrome): treatment with human growth hormone. Arch Dis Child 1969;44:231-43.
5. Albanese A, Stanhope R. GH treatment induces sustained catch-up growth in children with intrauterine growth retardation. Hormone Res 1997;48:173-7.
6. Stanhope R, Albanese A, Azcona C. Growth hormone treatment of Russell-Silver syndrome. Hormone Res 1998;49(suppl 2):37-40.
7. Azcona C, Albanese A, Bareille P, Stanhope R. Growth hormone treatment in growth hormone-sufficient and -insufficient children with intrauterine growth retardation/Russell-Silver syndrome. Hormone Res 1998;50:22-7.
8. Tanner JM, Lejarraga H, Cameron N. The natural history of the Silver-Russell syndrome: a longitudinal study of thirtynine cases. Pediatr Res 1975;9:611-23.
9. Davies PSW, Valley R, Preece MA. Adolescent growth and pubertal progression in the Silver-Russell syndrome. Arch Dis Child 1988;63:130-5.
10. Wollmann HA, Kirchner T, Enders H, Preece MA, Ranke MB. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Eur J Pediatr 1995;154: 958-68.
11. Patton M. Russell-Silver syndrome. J Med Genet 1988;25:557-60.
12. Donnai D, Thompson E, Allanson J, Baraitser M. Severe Silver-Russell syndrome. J Med Genet 1989;26:447-51.
13. Escobar V, Gleiser S, Weaver DD. Phenotypic and genetic analysis of the Silver-Russell syndrome. Clin Genet 1978;13:278-88.
14. Duncan PA, Hall JG, Shapiro LR, Vibert BK. Three-generation dominant transmission of the Silver-Russell syndrome. Am J Med Genet 1990;35:245-50.
15. Eggermann T, Eggermann K, Merganthaler S, et al. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. J Med Genet 1998;35:784-6.
16. Wakeling EL, Abu-Amero S, Price SM, Stanier P, Moore GE, Preece MA. Genetics of Silver-Russell syndrome. Hormone Res 1998;49(suppl 2):32-6.
17. Hall JG. Unilateral disomy as a possible explanation for Russell-Silver syndrome. J Med Genet 1990;27:141-2.
18. Eggerding FA, Schonberg A, Chehab FF, Norton ME, Cox VA, Epstein CJ. Uniparental disomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 1994;55:253-65.
19. Kotzot D, Schmitt S, Bernasconi F. et al. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995;4:583-7.
20. Hall J, Froster-Iskenius UG, Allanson JE. Handbook of normal physical measurements. Oxford: Oxford Medical Publishers, 1989.
21. Preece MA, Price SM, Davies V, et al. Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 1997;34:6-9.
22. Preece MA, Abu-Amero SN, Ali Z, et al. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in mUPD7 Silver-Russell syndrome probands. J Med Genet 1999;36:457-60.
23. Lai KYC, Skuse D, Stanhope R, Hindmarsh P. Cognitive abilities associated with the Silver-Russell syndrome. Arch Dis Child 1994;71:490-6.