Nasopalpebral lipoma coloboma syndrome
Indian Journal of Ophthalmology, 2011 Nasopalpebral lipoma-coloboma syndrome is characterized by nasopalpebral lipoma and eyelid coloboma. We report a case of a 16-year-old Indian girl who reported to us with this rare syndrome.
N Suresh Babu, D Raviprakash, Ravi Kumar
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Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]
Mol Genet Genomic MedTargeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P +6 more
europepmc +2 more sources
Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management. [PDF]
Vet OphthalmolABSTRACT A 15‐week‐old Australian Labradoodle puppy was presented to The University of Queensland Small Animal Hospital for bilateral eyelid agenesis/coloboma and associated ocular complications. Enucleation of the left globe and repair of the right eyelid via a lip‐to‐lid transmucosal flap was performed. Given the subsequent development of prolapse of
Ng CH +4 more
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Lateral Tarsorrhaphy and Fixation on the Orbital Ligament to Correct Macroblepharon in Dogs: 77 Palpebral Fissures. [PDF]
Vet OphthalmolABSTRACT Purpose To describe a surgical method for correcting lower lid entropion, lateral canthal entropion, and macroblepharon. Methods Lid margins were incised at a 45° angle, and lateral lid margins and a rhomboid shaped piece of skin were resected based on the degree of macroblepharon.
Werner-Tutschku M, Nell B.
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Three-dimensional flow instability in a lid-driven isosceles triangular cavity [PDF]
, 2011 Linear three-dimensional modal instability of steady laminar two-dimensional states developing in a lid-driven cavity of isosceles triangular cross-section is investigated theoretically and experimentally for the case in which the equal sides form a ...
J. KÜHNEN +12 more
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dKDM5/LID regulates H3K4me3 dynamics at the transcription-start site (TSS) of actively transcribed developmental genes [PDF]
, 2012 H3K4me3 is a histone modification that accumulates at the transcription-start site (TSS) of active genes and is known to be important for transcription activation.
Ponsà-Cobas, Joan +18 more
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A case of bilateral epibulbar dermoid tumours with unilateral coloboma of lid, hare lip etc
Indian Journal of Ophthalmology, 1957 Bose J
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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
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Comprehensive Study of Management of Upper Lid Coloboma
International Journal of Science and Research (Raipur, India)exaly +2 more sources
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
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