Results 151 to 160 of about 2,495 (204)

CLAPO syndrome: A case report emphasizing diagnosis and treatment options. [PDF]

JAAD Case Rep
Hewitt N, Williams J, Zinn Z.
europepmc   +1 more source

Double-bubble appearance - Screening of microphthalmic socket with orbital ultrasonography.

Oman J Ophthalmol
Shah S, Gotmare N, Ghosh S, Koli O.
europepmc   +1 more source

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Sex Dev
Lima-Santos J, Nascimento-Vidoti CG, Correia-Costa GR, Campos NLV, Guaragna MS, de Oliveira FM, Barros BA, Miranda ML, Antolini Tavares A, Guerra-Junior G, Maciel-Guerra AT, Fabbri-Scallet H, Vieira TP.   +12 more
europepmc   +1 more source

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“Blepharophimosis‐plus” syndromes: Frequency of systemic genetic disorders that also include blepharophimosis

Clinical and Experimental Ophthalmology, 2021
AbstractBackgroundTo determine the frequency of isolated blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) versus systemic genetic disorders in patients presenting with blepharophimosis.MethodsRetrospective clinical records review. The records of all patients with blepharophimosis seen in the Division of Ophthalmology at the Children's ...
Daphna Landau Prat, Brian J Nguyen, Alanna Strong   +2 more
exaly   +3 more sources

Congenital Alacrima in a Patient with Blepharophimosis Syndrome

Ophthalmic Genetics, 2009
To report a case of congenital alacrima in a patient with Blepharophimosis Syndrome (BPES).Case report of a 9-month-old female who presented with severe dry eyes. Further investigation revealed bilateral absence of lacrimal glands confirmed by CT.
Geetha K, Athappilly, Rebecca Sands, Braverman   +1 more
exaly   +3 more sources

Blepharophimosis: a recommendation for early surgery in patients with severe ptosis

Clinical and Experimental Ophthalmology, 2003
Purpose: To determine the optimal age for surgical correction of blepharophimosis.
Peter S Beckingsale, Timothy J Sullivan, Christine Oley   +2 more
exaly   +2 more sources

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature

European Journal of Medical Genetics, 2008
Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and additional malformations. We report on a boy with blepharophimosis, ptosis and severe mental retardation carrying an unbalanced 4;
Bernhard Steiner, Eugen Boltshauser, Mariluce Riegel   +2 more
exaly   +2 more sources

The Five-Flap Technique for Blepharophimosis

Archives of Ophthalmology, 1989
The correction of epicanthus associated with blepharophimosis is a difficult surgical problem. Most commonly used techniques, such as the Mustardé technique, require meticulous measurements, and their theoretical geometric basis and flap designs are often confusing.
R L, Anderson, T S, Nowinski
openaire   +2 more sources

Blepharophimosis and Cardiopathy

Journal of Pediatric Ophthalmology & Strabismus, 1980
A 2 1/2-year-old girl with blepharophimosis and ventriculoseptal defect is described. Blepharophimosis is rare, and this complex more so. Yet, the clinical implications of its recognition are potentially important.
openaire   +2 more sources