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Lacrimal drainage anomalies in 3p deletion syndrome.

Authors :
Ali MJ
Sinha P
Bothra N
Source :
Orbit (Amsterdam, Netherlands) [Orbit] 2024 Jun; Vol. 43 (3), pp. 366-368. Date of Electronic Publication: 2022 Nov 14.
Publication Year :
2024

Abstract

3p deletion syndrome or deletion 3p25-pter syndrome is an exceptionally rare genetic disorder characterized by deletion of the distal segment of the short arm of chromosome 3. There are less than a hundred reported cases worldwide. Clinical characteristics include severe physical and mental retardation, trigonocephaly, micrognathia, and diffuse hypotonia. The common ocular manifestations include congenital ptosis and canthal anomalies. To the best of the authors' knowledge, no lacrimal drainage anomalies have been reported earlier. The present case describes proximal lacrimal drainage anomalies in a patient with 3p deletion syndrome. The patient was successfully managed with membranotomy and punctal and canalicular dilatation, resulting in a complete resolution of epiphora.

Details

Language :
English
ISSN :
1744-5108
Volume :
43
Issue :
3
Database :
MEDLINE
Journal :
Orbit (Amsterdam, Netherlands)
Publication Type :
Academic Journal
Accession number :
36374187
Full Text :
https://doi.org/10.1080/01676830.2022.2144385