Brachydactyly, peculiar facies, and mental retardation

496

Smith

The )'ournal o[ Pediatrics March 1967

31. BRACHYDACTYLY, PECULIAR FACIES, AND MENTAL RETARDATION (Rubenstein's syndrome)

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5 years Height age: 31/2 years

Small stature. A variable feature of this syndrome; with or without prenatal onset Performance. Variable degrees of mental deficiency Cranlofacies. Cranium relatively small with prominent central forehead; downslanting palpebral fissures; with or without epicanthic folds; narrow nose with septum extending below alae; maxillary hypoplasia, high-arched palate; auricular defect (mild) H a n d s and feet. Broad thumbs and toes with or without increased breadth of other digits Etiology. Unknown. Cases sporadic REFERENCES

Rubenstein, J. H., and Taybl, H.: Broad thumbs and toes and facial abnormalities; a possible mental retardation syndrome, Am. J. Dis. Child. 105: 588, 1963. Coffin, G. S.: Braehydactyly, peculiar facies, and mental retardation, Am. J. Dis. Child. 108" 351, 1964:.