Results 31 to 40 of about 1,142,423 (87)
Systemic and Ophthalmologic Findings in Patients with Iris Coloboma
, 2013 Pur po se: Ocular coloboma is a rare malformation resulting from defective closure of the embryonic optic fissure. It can affect iris, retina, choroid, optic disc or ciliary body. This study reviews the clinical diagnosis and the accompanying ocular and
Nurgül Kuş +3 more
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Thoracic outlet syndrome arising from an extrapleural lipoma [PDF]
, 2016 Thoracic outlet syndrome refers to a multitude of signs and symptoms in the upper limb resulting from compression of the neurovascular bundle within the interscalene triangle.
William Partridge, MBBS, MRCS, FRCR +5 more
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PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome
, 2023 The transcription factor encoded by the PAX2 gene plays a significant role in the development of the urogenital tract, eyes, ears, and central nervous system.
Kumar Digvijay +12 more
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Bilateral isolated lens coloboma associated with bicuspid aortic valve
, 2015 A 27-year-old woman presented with a history of long-standing poor vision in both eyes. Ophthalmologic examination after pupillary dilatation revealed bilateral lens coloboma situated in the inferotemporal quadrant.
Polat, Onur +4 more
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High Cervical Intradural Lipoma : Case Report
, 1992 A rare high cervical intradural subpial lipoma unassociated with spinal dysraphism manifested by a slowly progressive myelopathy simulating Brown-Sequard syndrome in a 37-year-old male. The diagnosis was based on neuroradiological imaging. Intraoperative
Yamashita, Kohsuke +3 more
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Femoral sheath lipoma causing venous obstruction syndrome
, 2010 Lipomas are benign, encapsulated, soft-tissue tumours composed of well-differentiated adipocytes. They arise in the subcutaneous tissue typically on the back, shoulder and neck.
Paul Thomas, Andrew Day
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, 2019 Purpose: MPPC syndrome has been described as a syndrome that presents with chorioretinal coloboma, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma. The purpose of our study is to report three patients who present with
Cernichiaro-Espinosa, Linda A +13 more
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, 2023 Coloboma is a term used to describe defects seen in various ocular structures due to incomplete embryologic development. Fundus coloboma specifically is due to failure of the embryonal fissure to close, which typically occurs by 5-7 weeks gestation ...
Kirstyn Taylor; Drew Scoles, MD
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Lipomas: genetic basis of common skin lesions and their occurrence in rare diseases. [PDF]
Postepy Dermatol Alergol, 2023 Marzyńska D, Żaba R, Lacka K.
europepmc +1 more source
Cutler Beard Procedure for Bilateral Upper Eyelid Coloboma in Charge’s Syndrom: Surgical Outcome [PDF]
Ocular coloboma is one of the anomalies that commonly seen in CHARGE syndrome. This syndrome is an autosomal dominant malformation which includes six major features: coloboma, heart defect, atresia of the choanae, retarded growth and development delay ...
Pagarra, Halimah +4 more
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