[Rubinstein-Taybi syndrome--a report of three cases].
The main features of Rubinstein-Taybi syndrome include special facial appearance, broad thumbs, great toes and mental retardation. This syndrome presents many organogenetic and systemic deformities and various congenital ocular abnormalities, such as epicanthus, antimogoloid palpebral fissures, highly arched eyebrows, long eyelashes, obstruction of nasolacrimal ducts, strabismus and iris coloboma. In this paper we report three children with Rubinstein-Taybi syndrome with the above systemic and ocular clinical findings, and think that the lacrimal abnormality should not be overlooked in this syndrome. We brief discuss the genetics of this syndrome and suggest that the search for minimal chromosomal defects by high resolution technique might be useful for etiologic and genetic research.
Chen
Y Z
YZ
Ma
Q Y
QY
Zeng
L H
LH
D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000209:etiology / Q000235:genetics* / Q000473:pathology