Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients
Interstitial microdeletions of 20q chromosome are rare, only 17 patients have been reported in the literature to date. Among them, only six carried a proximal 20q11.21-q11.23 deletion, with a size ranging from 2.6 to 6.8 Mb.
Aldred +25 more
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Ex- and Enophthalmos: General Aspects
AbstractExophthalmos and enophthalmos result from a discrepancy between the bony orbital cavity and its soft tissue contents. Exophthalmos arises when the orbital soft tissues enlarge or neoplasms occupy orbital space. Exophthalmos is more frequent than enophthalmos.
openaire +2 more sources
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing [PDF]
Thoracic aortic aneurysm (TAA) is a genetically heterogeneous disease involving subclinical and progressive dilation of the thoracic aorta, which can lead to life-threatening complications such as dissection or rupture.
Hinton, Robert B. +4 more
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Late reconstruction of post-traumatic enophthalmos and hypoglobus using three-dimensional implants: a case series [PDF]
Jae Hyeok Choi, Wooyeol Baek
openalex +1 more source
Cavernous Hemangioma of the Orbit and Its Impact on Orbital Fat
The most common representative of primary tumors is a cavernous hemangioma of the orbit, which can lead to the disorder of functions of an eye and a cosmetic defect.
O. Yu. Yatsenko
doaj +1 more source
Orbital floor reconstruction with high density polyethylene [PDF]
Surgical interventions in blow out fractures are generally indicated in cases of alterations in orbital function (e.g. diplopia)and for aesthetic reasons (e.g. enophthalmos).
Daniel Pozza +4 more
core
Clinical and ultrasonographic findings of some ocular conditions in sheep and goats [PDF]
This study was carried out to describe the ultrasonographic findings in relation to the clinical symptoms of some common ocular conditions in sheep and goats.
M. Tharwat, O. El-Tookhy
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Orbital medial wall fractures: Purely endoscopic endonasal repair with polyethylene implants [PDF]
Our technique couples the stronger support granted by non-resorbable materials and the minimal invasiveness of the endoscopic approach without the need for long-term nasal ...
Allevi F. +7 more
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Repair of Orbital Post-Traumatic Wall Defects by Custom-Made TiNi Mesh Endografts
Repairs of orbital post-traumatic and extensive malignant defects remain a major surgical challenge, in view of follow-up outcomes. Incorrect surgical management of injured facial structures results in cosmetic, ophthalmic, and social aftereffects.
Valentin Shtin +9 more
doaj +1 more source
Parry Romberg Syndrome with localized scleroderma: a case report [PDF]
Parry Romberg syndrome(PRS) is a rare acquired poorly understood neurocutaneous syndrome of unknown etiology characterized by slow progressive atrophic changes commonly affecting one half of the face. The exact incidence and etiology towards the syndrome
Gupta, Nikita +3 more
core +1 more source

