Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2766-2770

  Parsley, Lea ^a   Bellus, Gary ^a   Handler, Michael ^b   Tsai, Anne Chun Hui ^a  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL COLORADO   (United States)

Author keywords

Chiari malformation; Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

ADOLESCENT; ARNOLD CHIARI MALFORMATION; ARTICLE; BRAIN DECOMPRESSION; CASE REPORT; CLINICAL FEATURE; CREBBP GENE; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FEMALE; FOLLOW UP; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MARKER GENE; MEDICAL HISTORY; MONOZYGOTIC TWINS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PHYSICIAN ATTITUDE; POSTOPERATIVE PERIOD; PREOPERATIVE EVALUATION; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN FUNCTION; RUBINSTEIN SYNDROME; SCOLIOSIS; SPINAL CORD DISEASE;

ADOLESCENT; ARNOLD-CHIARI MALFORMATION; CREB-BINDING PROTEIN; FEMALE; GASTROSTOMY; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PHYSICAL EXAMINATION; RUBINSTEIN-TAYBI SYNDROME; SCOLIOSIS; SYRINGOMYELIA; TWINS, MONOZYGOTIC;

EID: 80054914893     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34227     Document Type: Article

References (12)

1. Brown LM, Sharrard WJW. 1980. Cervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome. Surgery 62: 297-299.
2. Fernández AA, Guerrero AI, Martínez MI, Vázquez MEA, Fernández JB, Chesa I, Octavio E, Labrado JDC, Silva ME, Araoz MFGF, Garcia-Ramos R, Ribes MG, Gomez C, Valdivia JI, Valbuena RN, Ramon JR. 2009. Malformations of the craniocervical junction (Chiari type I and syringomyelia: Classification, diagnosis and treatment). BMC Musculoskelet Disord 10: S1.
3. Kim SH, Lim BC, Chae JH, Kim KJ, Hwang YS. 2010. A case of Rubinstein-Taybi syndrome with a CREB binding protein gene mutation. Korean J Pediatr 53: 718.
4. Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. 2005. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 76: 572-580.
5. Sarkar S, Petiot A, Copp A, Ferretti P, Thorogood P. 2001. FGF2 promotes skeletogenic differentiation of cranial neural crest cells. Development (Cambridge, England) 128: 2143-2152.
6. Schijman E. 2004. History, anatomic forms, and pathogenesis of Chiari I malformations. Child's nervous system: ChNS: Off J Int Soc Pediatr Neurosurg 20: 323-328.
7. Sener RN. 1995. Rubinstein-Taybi syndrome: Cranial MR imaging findings. Comput Med Imaging Graph 19: 417-418.
8. Tanaka T, Ling BC, Rubinstein JH, Crone KR. 2006. Rubinstein-Taybi syndrome in children with tethered spinal cord. J Neurosurg 105: 261-264.
9. Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens C. 2003. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet Part A 119A: 101-110.
10. Williams H. 2008. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida. Cerebrospinal Fluid Res 5: 7.
11. Wójcik C, Volz K, Ranola M, Kitch K, Karim T, O'Neil J, Smith J, Torres-Martinez W. 2010. Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome? Am J Med Genet Part A 152A: 479-483.
12. Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G. 2005. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet Part A 135A: 130-133.