An ophthalmologist performed detailed examinations of the patients and diagnosed BPES based on the following criteria: blepharophimosis, ptosis, epicanthus
inversus, and telecanthus [Figure 1]b.
Our patient had facial malformations (depressed nasal bridge, anteverted nostrils, thin upper lip, downturned mouth corners, bilateral epicanthus
, and micrognathia), and hypoplasic distal phalanxes and nails in the left hand as additional anomalies.
Clinical examination at 5 years of age noted some dysmorphic features such as prominent forehead, big ears, hypotelorism, downslanted palpebral fissures, epicanthus
, strabismus, depressed nasal root, anteverted nares, long philtrum, and malar flattening.
We observed some common features with the patient described by Blyth et al.'s study presenting hypertelorism, bilateral 2-3 toes' syndactyly, beaking of the nose, and epicanthus
For actigraphic recordings, electrodes were implanted in the trapezius muscles, in the muscle pad that moves rostrum+vibrissae and in the lateral epicanthus
of each eye to record head, rostrum+vibrissae and eye movements, respectively.
Eight items (epicanthus
, hypertelorism (i.e., widely spaced eyes), low-settled ears, adherent ear lobe, malformed ears, relative toe lengths, partial syndactylia, and sandal gap between first and second toe) were assessed from photographs of face (front and in profile) and feet by two psychiatrists (Irina Manouilenko, Mats B.
and epiblepharon," Archives of Ophthalmology, vol.
Frontal inspection revealed epicanthus
, low-set ears and typical fascial expression "mask-like appearance" caused probably by bilateral facial nerve involvement (Figure 1).
The normative values of size and slant of palpebral fissure may be valuable for the clinician in the assessment of ptosis, malar hypoplasia, and epicanthus
Results: Frequency of pyloric stenosis in infants from 0 - 6 months 64.95% and infants 6 - 12 months is 35.09%, the ocular abnormalities amblyopia 19%, strabismus 23%, phoria only 43.5%, epicanthus
10%, hypertelorism 3%, ptosis 1%, nystagmus 0.5%.