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The Indian Medical Gazette Mar 1904
PubMed: 29003962
DOI: No ID Found -
Journal of the All-India... Oct 1966
Topics: Cleft Palate; Eyelids; Humans; Infant, Newborn; Male
PubMed: 5982335
DOI: No ID Found -
Survey of Ophthalmology 2004Dysmorphology is the field of medicine focusing on congenital developmental abnormalities due to exogenous teratogens, chromosomal anomalies, or to a defect in a single... (Review)
Review
Dysmorphology is the field of medicine focusing on congenital developmental abnormalities due to exogenous teratogens, chromosomal anomalies, or to a defect in a single gene. Numerous syndromes have been reported and a growing number of genes or chromosomal anomalies are identified. The clinical observation of the face remains an essential part of the clinical evaluation of the patients. The orbital region, as other regions of the face, should be systematically evaluated. Orbital malformations can be isolated or part of a syndrome. In the diagnostic process, the orbital anomaly can be classified as a major feature (essential for the diagnosis), a moderate feature (important but not essential for the diagnosis), or a minor feature (contributing weakly to the diagnosis). The diagnoses of the main orbital anomalies in dysmorphology are reviewed and illustrated with relevant examples of syndromes that are presented as well as the usual landmarks used in clinical practice. Abnormal position of the eyes in syndromes such as hypertelorism, hypotelorism, primary or secondary telecanthus, asymmetry, and proptosis are discussed. Eyelid anomalies, such as cryptophthalmos, ablepharon, blepharophimosis, euryblepharon, or anomalies at the level of the eyelashes and eyebrows are described.
Topics: Craniofacial Abnormalities; Eye Abnormalities; Eyelids; Humans; Hypertelorism; Orbit
PubMed: 15530943
DOI: 10.1016/j.survophthal.2004.08.001 -
Genetic Counseling (Geneva, Switzerland) 2001
Topics: Abnormalities, Multiple; Adult; Eyelids; Facies; Female; Humans; Vagina
PubMed: 11332973
DOI: No ID Found -
The Journal of Craniofacial Surgery 2019To resect benign tumors on the palpebral margin using an improved minimally invasive surgery, and to observe the outcome and analyze the possible healing mechanism of...
OBJECTIVE
To resect benign tumors on the palpebral margin using an improved minimally invasive surgery, and to observe the outcome and analyze the possible healing mechanism of this improved surgical technique.
METHODS
Fifty-five patients with a benign tumor on the palpebral margin measuring 2- to 10 mm in diameter were included in this study. The tumors were resected along their edge and basal layer, causing minimal damage to the surrounding structures. Postoperative outcome measures included the following: the wound status, epithelial healing, eyelash growth, recurrence, and complications. Postoperative follow-up time points were 1 day, 7 days, 14 days, 1 month, 3 months, and 12 months.
RESULTS
The wound status ranged from edema to contraction in the early stage postoperatively. The eyelashes that were excised during the operation began to grow from 7 to 14 days postoperatively, and the epithelium began to close simultaneously. From 14 days to 3 months postoperatively, the eyelash and epithelium grew completely, and the scar disappear gradually. Except in 1 patient with trichiasis at 3 months and one patient with tumor recurrence at 12 months postoperatively, there were no other complications, such as ablepharon deformities, alopecia palpebralis, etc. CONCLUSION:: Our improved minimally invasive technique not only resected the tumor effectively but also preserved the important anatomical structure of the palpebral margin. The favorable outcomes resulted from the mechanism of wound healing. This new surgical method is worth implementing in clinical practice.
Topics: Cohort Studies; Eyelid Neoplasms; Eyelids; Humans; Minimally Invasive Surgical Procedures; Ophthalmologic Surgical Procedures; Treatment Outcome
PubMed: 31048616
DOI: 10.1097/SCS.0000000000005161 -
Methods (San Diego, Calif.) Nov 2018The use of CRISPR/Cas9 to knockout genes in zebrafish has been well established. However, to better model many human diseases that are caused by point mutations, a...
The use of CRISPR/Cas9 to knockout genes in zebrafish has been well established. However, to better model many human diseases that are caused by point mutations, a robust methodology for generating desirable DNA base changes is still needed. Recently, Cas9-linked cytidine deaminases (base editors) evolved as a strategy to introduce single base mutations in model organisms. They have been used to convert cytidine to thymine at specific genomic loci. Here we describe a protocol for using the base editing system in zebrafish and its application to reproduce a single base mutation observed in human Ablepharon-Macrostomia Syndrome.
Topics: Abnormalities, Multiple; Animals; Base Sequence; CRISPR-Cas Systems; Cytidine; Cytidine Deaminase; Disease Models, Animal; Embryo, Nonmammalian; Eye Abnormalities; Female; Gene Editing; Humans; Macrostomia; Male; Mutagenesis, Site-Directed; Point Mutation; RNA, Guide, CRISPR-Cas Systems; Thymine; Twist-Related Protein 2; Zebrafish; Zebrafish Proteins
PubMed: 30076894
DOI: 10.1016/j.ymeth.2018.07.010 -
Genetic Counseling (Geneva, Switzerland) 2002
Topics: Abnormalities, Multiple; Disorders of Sex Development; Eyelids; Female; Humans; Infant; Intellectual Disability; Metacarpophalangeal Joint; Musculoskeletal Abnormalities; Syndrome
PubMed: 12017240
DOI: No ID Found -
Archives of Ophthalmology (Chicago,... Mar 2000
Topics: Abnormalities, Multiple; Ear; Eye Abnormalities; Eyelashes; Eyelids; Female; Genitalia, Female; Hernia, Umbilical; Humans; Infant, Newborn; Macrostomia; Skin Abnormalities; Syndrome
PubMed: 10721975
DOI: No ID Found -
Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2.Orbit (Amsterdam, Netherlands) Dec 2022Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the...
Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the ophthalmic anomalies that occur in these syndromes, underdevelopment of the anterior lamella of the eyelid is a defining feature. Reports of mosaic expression of TWIST2 mutations are extremely rare, with only five confirmed or suspected cases described to date. Mosaic expression of TWIST2 variants is correlated with a less severe phenotype than that reported for the typical expression of TWIST2 variants associated with BSS or AMS. Abnormal development of the anterior lamella appears to be a common feature in all cases of AMS with mosaic expression. Here, we describe the phenotype of a patient with mosaic expression of a TWIST2 mutation that is typically associated with AMS. We additionally describe the surgical approach employed in the treatment of this patient.
Topics: Humans; Macrostomia; Mutation; Phenotype; Repressor Proteins; Twist-Related Protein 1
PubMed: 34092176
DOI: 10.1080/01676830.2021.1930066 -
BMC Biology Dec 2020Zebrafish is a model organism widely used for the understanding of gene function, including the fundamental basis of human disease, enabled by the presence in its genome...
BACKGROUND
Zebrafish is a model organism widely used for the understanding of gene function, including the fundamental basis of human disease, enabled by the presence in its genome of a high number of orthologs to human genes. CRISPR/Cas9 and next-generation gene-editing techniques using cytidine deaminase fused with Cas9 nickase provide fast and efficient tools able to induce sequence-specific single base mutations in various organisms and have also been used to generate genetically modified zebrafish for modeling pathogenic mutations. However, the editing efficiency in zebrafish of currently available base editors is lower than other model organisms, frequently inducing indel formation, which limits the applicability of these tools and calls for the search of more accurate and efficient editors.
RESULTS
Here, we generated a new base editor (zAncBE4max) with a length of 5560 bp following a strategy based on the optimization of codon preference in zebrafish. Our new editor effectively created C-to-T base substitution while maintaining a high product purity at multiple target sites. Moreover, zAncBE4max successfully generated the Twist2 p.E78K mutation in zebrafish, recapitulating pathological features of human ablepharon macrostomia syndrome (AMS).
CONCLUSIONS
Overall, the zAncBE4max system provides a promising tool to perform efficient base editing in zebrafish and enhances its capacity to precisely model human diseases.
Topics: Abnormalities, Multiple; Animals; Base Sequence; Eye Abnormalities; Gene Editing; Humans; Macrostomia; Mutation; Zebrafish
PubMed: 33272268
DOI: 10.1186/s12915-020-00923-z