Search results for "Ectropion"
showing 3 items of 3 documents
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
2013
Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…
The isolated orbital floor fracture from a transconjunctival or subciliary perspective-A standardized anthropometric evaluation
2015
Background The influence of orbital fractures and their repair on the rate of deformities of the lower eyelid is an ongoing source of discussion in the literature. Most of the present studies include isolated blowout as well as combined orbital fractures. Material and Methods We present a retrospective evaluation of a series of 100 patients after isolated blowout fracture repair using reference anthropometric data on standardized photographs. Analysis included eye fissure width and height, lid sulcus height, upper lid height, upper and lower iris coverage, position of cornea to palpebra inferior, canthal tilt, scleral show, ectropion and entropion. It was clearly distinguished between opera…
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
2009
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …