Figure 1.

A Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

(A–D) Individual 1 at the age of 1 year (A), individual 2 at the age of 7 years 7 months (B), individual 3 at the age of 3 years 1 month (C), and individual 4 at the age of 1 year 2 months (D). Note characteristic facial features with blepharophimosis and ptosis, sparse hair, sparse and arched eyebrows, long philtrum, anteverted nares, retrognathia, and low-set, posteriorly rotated ears. Individuals 2 and 3 also have upslanting palpebral fissures; this feature develops with age.

(E) Cranial MRI scan of individual 1 (Ind. 1) at age 1 year 10 months shows cerebellar tonsillar ectopia consistent with Chiari 1 malformation, thin corpus callosum, and an overall small head. A cranial MRI scan of a healthy age-matched control (Co) is also shown.