Results 11 to 20 of about 1,560 (180)
CONGENITAL UPPER lid COLOBOMA [PDF]
Australian and New Zealand Journal of Ophthalmology, 1986 AbstractTwenty‐two patients with congenital upper lid colobomas were assessed Strabismus occurred in 13 cases and was associated with bands of fibrous tissue or adhesions, high refractive errors and opacities in the ocular media A traction test is strongly recommended early in all children with congenital upper lid colobomas A lateral cantholysis and ...
openaire +4 more sources
Vision Pan-America, 2017 Manitoba Oculo-tricho-anal Syndrome (MOTA) is a rare autosomal recessive disorder characterized by eyelid coloboma, cryptophthalmos, anophthalmia or microphthalmia, abnormal hair growth from scalp to eyebrow, bifid or broad nasal tip, and ...
Suzie Kazaryan, Alejandra Valenzuela
doaj +3 more sources
Treacher Collins syndrome-a case report and review of literature [PDF]
, 2011 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900 ...
Baldawa, Rahul, Kasat, Vikrant O.
core +1 more source
Congenital isolated bilateral upper lid coloboma
Nepalese Journal of Ophthalmology, 1970 A case of congenital isolated coloboma of both the upper lids from just lateral to the lacrimal punctum up to the medial half, with symblepharon in the region of lower eyelid, was studied in a 7-year-old female child. She did not have any other associated anomalies. The birth and family histories were normal. The puncta were normal in position and well
J B, Shrestha +3 more
openaire +3 more sources
A case of bilateral epibulbar dermoid tumours with unilateral coloboma of lid, hare lip etc
Indian Journal of Ophthalmology, 1957 Bose J
doaj +1 more source
Pedunculated dermolipoma with overlying upper lid coloboma and absent lateral canthus: Cause and effect? [PDF]
Eye, 1999 Pedunculated dermolipoma with overlying upper lid coloboma and absent lateral canthus: Cause and effect?
Anuradha Ganesh, Mohan Rangaswamy
openaire +1 more source
The chick as an animal model of eye disease [PDF]
, 2013 A diverse range of chicken lines harbouring highly-penetrant, spontaneously-occurring mutations with an ocular phenotype have been identified over the past 40 years.
Guggenheim, Jeremy Andrew +1 more
core +1 more source
Encephalocraniocutaneous lipomatosis: A rare neurocutaneous disorder
TNOA Journal of Ophthalmic Science and Research, 2019 A 5-year-old boy presented with the left eye epibulbar choristomas, upper lid coloboma, small periocular papules, and lipomatous swelling in the frontoparietal area with patchy alopecia on the left parietal side of the scalp.
Antony Arokiadass Baskaran +1 more
doaj +1 more source
Delleman syndrome: A case report from West Africa - features and the challenges of management
Nigerian Postgraduate Medical Journal, 2018 Delleman syndrome is a rare congenital disorder. We report an 8-month old female with a history of a fleshy mass covering the left eye since birth. Examination revealed poor vision in the left eye, an upper lid coloboma and an epibulbar dermoid with a ...
Mary Ugalahi +4 more
doaj +1 more source
Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family [PDF]
, 2015 Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia. Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes
Abouzeid, Hana +7 more
core +1 more source