Rubinstein-Taybi syndrome

A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.

Epicanthus

A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.


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PMID (PMCID)
6887749
 FEMALE Child
[Rubinstein-Taybi syndrome and juvenile glaucoma].
Weber U, Bernsmeier H.
Klin Monbl Augenheilkd. 1983;183(1):47-9.
In a six-year-old girl with Rubinstein-Taybi syndrome the ophthalmological findings were as follows: bushy brows, hypertelorism, epicanthus, an antimongoloid slant to the eyelids and hyperopia with an alternating convergent squint.