Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-Year follow-up until improvement of dysbasia

Congenital Anomalies

Volumn 45, Issue 2, 2005, Pages 65-66

  Muneuchi, Gan ^a   Kogure, Tetsukuni ^a   Sano, Norihisa ^a   Hamamoto, Yusuke ^a   Kishikawa, Yuka ^a   Tamai, Motoki ^a   Igawa, Hiroharu H ^a  

^a KAGAWA UNIVERSITY   (Japan)

Author keywords

Broad thumb hallux syndrome; Dysbasia; Polydactyly; Postaxial polydactyly; Rubinstein Taybi syndrome (RTS)

Indexed keywords

ANAMNESIS; ARTICLE; BONE REMODELING; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; FOLLOW UP; HUMAN; INTERMITTENT CLAUDICATION; MALE; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; CONGENITAL MALFORMATION; TOE; WALKING;

CHILD, PRESCHOOL; FOLLOW-UP STUDIES; HUMANS; MALE; POLYDACTYLY; RUBINSTEIN-TAYBI SYNDROME; TOES; WALKING;

EID: 23844511588     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/j.1741-4520.2005.00066.x     Document Type: Article

References (10)

1. Baraitser M, Preece MA (1983) The Rubinstein-Taybi syndrome. Occurrence in two sets of identical twins. Clin Genet 23: 318-320.
2. Hennekan RC, Stevens CA, Van de Kamp JJ (1990) Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet 6S: 56-64.
3. Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG (1990) Rubinstein-Taybi syndrome in the Netherlands. Am J Med Genet 6S: 17-29.
4. Kajii T, Hagiwara K, Tsukahara M, Nakajima H, Fukuda Y (1981) Monozygotic twins discordant for Rubinstein-Taybi syndrome. J Med Genet 18: 312-314.
5. Partington MW (1990) Rubinstein-Taybi syndrome: A follow-up study. Am J Med Genet 6S: 65-68.
6. Petrij F, Dauwerse HG, Blough RI et al. (2000) Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 37: 168-176.
7. Petrij F, Giles RH, Dauwerse HG et al. (1995) Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376: 348-351.
8. Rubinstein JH (1971) Broad thumb-hallux syndrome. XIII International Congress of Pediatrics Wien. 92: 471.
9. Rubinstein JH, Taybi H (1963) Broad thumbs and toes and facial abnormalities: A possible mental retardation syndrome. Am J Dis Child 105: 588-608.
10. Stevens CA, Carey JC, Blackburn BL (1990) Rubinstein-Taybi syndrome: A natural history study. Am J Med Genet 6S: 30-37.