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2021 4
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Quoted phrase not found in phrase index: "Abnormality of the palpebral fissures"
Page 1
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A, Bapna M, Al-Saif H, Li R, Couser NL. Shah A, et al. Ophthalmic Genet. 2022 Feb;43(1):126-129. doi: 10.1080/13816810.2021.1989601. Epub 2021 Oct 20. Ophthalmic Genet. 2022. PMID: 34670449
Commonly reoccurring reported eye and ocular adnexa features within the spectrum include ptosis, downslanting palpebral fissures, and hypertelorism. Other less common findings include strabismus, astigmatism, and optic nerve hypoplasia. ...
Commonly reoccurring reported eye and ocular adnexa features within the spectrum include ptosis, downslanting palpebral fissures …
Assessment of eye closure and blink with facial palsy: A systematic literature review.
Zaidman M, Novak CB, Borschel GH, Joachim K, Zuker RM. Zaidman M, et al. J Plast Reconstr Aesthet Surg. 2021 Jul;74(7):1436-1445. doi: 10.1016/j.bjps.2021.03.059. Epub 2021 Mar 30. J Plast Reconstr Aesthet Surg. 2021. PMID: 33952434
The purpose of this systematic literature review was to identify the measures used to assess normal and abnormal eye closure and blinking in patients with facial palsy. A literature search of the PubMed database using the keyword "facial nerve/surgery" was conducted. ...Th …
The purpose of this systematic literature review was to identify the measures used to assess normal and abnormal eye closure and blin …
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N. Simmers R, et al. Ophthalmic Genet. 2022 Oct;43(5):699-702. doi: 10.1080/13816810.2022.2089358. Epub 2022 Jun 27. Ophthalmic Genet. 2022. PMID: 35762114
RESULTS: Our patient's abnormal eye features include myopia, down slanting palpebral fissures, sagging inferior periorbital skin, hypertelorism, and long eyelashes. From the systemic review of literature, the most common abnormal eye and ocular adnexa …
RESULTS: Our patient's abnormal eye features include myopia, down slanting palpebral fissures, sagging inferior periorb …
Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review.
Tsang TW, Finlay-Jones A, Perry K, Grigg JR, Popova S, Cheung MMY, Bower C, Tam P, Jamieson RV, Elliott EJ. Tsang TW, et al. Ophthalmic Epidemiol. 2023 Aug;30(4):340-351. doi: 10.1080/09286586.2022.2123004. Epub 2022 Sep 14. Ophthalmic Epidemiol. 2023. PMID: 36102703 Review.
RESULTS: Of the 1,068 retrieved articles 36 were eligible, including articles on children with diagnosed fetal alcohol syndrome/FASD (N = 31); PAE (N = 3); and FASD or PAE without FASD (N = 2). Structural and functional eye abnormalities were identified, the most prevalent …
RESULTS: Of the 1,068 retrieved articles 36 were eligible, including articles on children with diagnosed fetal alcohol syndrome/FASD (N = 31 …
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A. Merdler-Rabinowicz R, et al. Eur J Med Genet. 2021 Jun;64(6):104210. doi: 10.1016/j.ejmg.2021.104210. Epub 2021 Mar 30. Eur J Med Genet. 2021. PMID: 33794347
Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been …
Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, …
Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
Saadeh-Jackson S, King K, Al Saif H, Jackson-Cook C, Schleede J, Couser NL. Saadeh-Jackson S, et al. J Pediatr Ophthalmol Strabismus. 2021 Nov-Dec;58(6):e44-e48. doi: 10.3928/01913913-20210826-01. Epub 2021 Nov 1. J Pediatr Ophthalmol Strabismus. 2021. PMID: 34851787
The most common features noted in these 90 patients, with a roughly equal male-to-female ratio of impact (7:8), were as follows: microcephaly (57%), triangular facies (18%), anomalous palpebral fissures (31%), strabismus (48%), low-set ears (52%), hearing loss to so …
The most common features noted in these 90 patients, with a roughly equal male-to-female ratio of impact (7:8), were as follows: microcephal …
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
Le H, Jin E, Jewell A, Jackson-Cook C, Haskell GT, Couser N. Le H, et al. Am J Med Genet A. 2023 Jun;191(6):1639-1645. doi: 10.1002/ajmg.a.63186. Epub 2023 Mar 20. Am J Med Genet A. 2023. PMID: 36941760
The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. ...Her opht …
The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnorma …