Prenatal sonographic diagnosis of Rubinstein-Taybi syndrome

Journal of Ultrasound in Medicine

Volumn 28, Issue 5, 2009, Pages 669-672

  Greco, Elena ^a   Sglavo, Gabriella ^a   Paladini, Dario ^a,b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CLINICAL FEATURE; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS MALFORMATION; GESTATION PERIOD; HUMAN; PREGNANCY TERMINATION; RUBINSTEIN SYNDROME;

EID: 65949101651     PISSN: 02784297     EISSN: None     Source Type: Journal    
DOI: 10.7863/jum.2009.28.5.669     Document Type: Article

References (8)

1. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. Am J Dis Child 1963; 105:588-608.
2. Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet 1995; 59: 346-348.
3. Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet 2006; 14:981-985. (Pubitemid 44275830)
4. Petrij F, Dauwerse HG, Blough RI, et al. Diagnostic analysis of Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet 2000; 37:168-176.
5. Agarwal R, Aggarwal R, Kabra M, Deorari AK. Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. Clin Dysmorphol 2002; 11:223-224. (Pubitemid 34705628)
6. Bromley B, Benacerraf B. Abnormalities of the hands and feet in the fetus: sonographic findings. AJR Am J Roentgenol 1995; 165:1239-1243.
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8. Jones K. Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, PA: Elsevier; 2006: 110-111, 190.