Ahumada MH, Ramírez AJL, Santana MBL, Susana Elizalde VS

Language: Spanish
References: 5
Page: 149-152
PDF size: 74.60 Kb.

ABSTRACT

Rubinstein-Taybi syndrome is a sporadic disease with few familial cases with an estimated frequency of 1/300,000 live births characterized by mental retardation, proportionate low stature, broad thumbs and first toes, in addition to craniofacial anomalies. We presented a case of an 8-year-old male patient who demonstrated the clinico-radiologic findings of this disease.

REFERENCES

1. Hennekam RCM et al. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Amer J Human Gen 1993; 52: 255.

2. Taybi H. History and radiologic manifestations of RTS. In the Proceedings of the First International Family Conference on Rubinstein-Taybi Syndrome. 1993: 16-18.

3. Albanese A et al. Diagnostic imaging techniques in Rubinstein-Taybi syndrome: report of 8 cases. Radiol Med 1991; 81: 253.

4. Grunow JE. Gastroesophageal reflux in Rubinstein-Taybi syndrome. J Pediatr Gastroenterol Nutr 1982; 1: 273.

5. Taybi Rubinstein JH. Broad thumbs and toes and unusual facial features. A probable mental syndrome. Am J Roentgenol 1965; 93: 362-366.