Disease characteristics. Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnata...

T congenital cranial dysinnervation disorders (CCDDs) encompass most congenital, static restrictions of ocular motility, often associated with ptosis, and retraction of the globe.1 The CCDDs can be monogenic or chromosomal in origin. Although chromosomal copy number variations (CNVs) has been reported in patients with syndromic CCDDs,2 but there are still patients for whom the genetic basis has...

background brow ptosis is a potential complication after upper eyelid blepharoplasty. the aim of this study was to analyze the effect of upper blepharoplasty on eyebrow position. methods in this between april 2011 and march 2013, eighty three patients (166 eyes with mean age of 49.7 years) underwent upper eyelid blepharoplasty. the patients were assessed using pre- and post-operatively digital ...

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; sh...

BACKGROUND Horner syndrome (HS), also known as Claude-Bernard-Horner syndrome or oculosympathetic palsy, comprises ipsilateral ptosis, miosis, and facial anhidrosis. CASE REPORT We report herein the case of a 67-year-old man who presented with congenital HS associated with ipsilateral hypoplasia of the internal carotid artery (ICA), as revealed by heterochromia iridis and confirmed by compute...

PURPOSE Evaluate factors contributing to ptosis after glaucoma surgery. METHODS Three-year retrospective chart review from January 1, 2012, to January 1, 2015, 157 eyes, 3 surgeons, at Boston Medical Center, to determine the incidence of ptosis and the effects of each variable contributing to ptosis at 3 months after surgery. Each variable was analyzed using the chi-square or independent samp...