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Abnormal nasolacrimal system morphology

MedGen UID:
871343
Concept ID:
C4025835
Anatomical Abnormality
Synonym: Abnormality of the nasolacrimal system
 
HPO: HP:0000614

Definition

An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. [from HPO]

Conditions with this feature

Saethre-Chotzen syndrome
MedGen UID:
64221
Concept ID:
C0175699
Disease or Syndrome
Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyly of digits two and three of the hand is variably present. Cognitive development is usually normal, although those with a large genomic deletion are at an increased risk for intellectual challenges. Less common manifestations of SCS include other skeletal findings (parietal foramina, vertebral segmentation defects, radioulnar synostosis, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated or curved distal hallux), hypertelorism, palatal anomalies, obstructive sleep apnea, increased intracranial pressure, short stature, and congenital heart malformations.

Professional guidelines

PubMed

Nair JR, Syed R, Chan IYM, Gorelik N, Chankowsky J, Del Carpio-O'Donovan R
Br J Radiol 2022 Jul 1;95(1135):20211333. Epub 2022 May 19 doi: 10.1259/bjr.20211333. PMID: 35522773Free PMC Article
Eustis HS, Nguyen AH
J Pediatr Ophthalmol Strabismus 2018 Jan 1;55(1):65-67. Epub 2017 Oct 9 doi: 10.3928/01913913-20170703-08. PMID: 28991351
Becker BB
Am J Ophthalmol 2006 Nov;142(5):835-8. Epub 2006 Sep 20 doi: 10.1016/j.ajo.2006.05.043. PMID: 16989760

Recent clinical studies

Etiology

Rajan R, Tunkel DE
Clin Perinatol 2018 Dec;45(4):751-767. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.011. PMID: 30396416
Nemet AY
Semin Ophthalmol 2016;31(3):275-9. Epub 2014 Nov 6 doi: 10.3109/08820538.2014.962163. PMID: 25375763
Kamal S, Ali MJ, Gupta A, Naik MN
Int Ophthalmol 2015 Dec;35(6):807-10. Epub 2015 Feb 14 doi: 10.1007/s10792-015-0050-1. PMID: 25680420
Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337
Lowe LH, Booth TN, Joglar JM, Rollins NK
Radiographics 2000 Jul-Aug;20(4):907-22; quiz 1106-7, 1112. doi: 10.1148/radiographics.20.4.g00jl07907. PMID: 10903683

Diagnosis

Nair JR, Syed R, Chan IYM, Gorelik N, Chankowsky J, Del Carpio-O'Donovan R
Br J Radiol 2022 Jul 1;95(1135):20211333. Epub 2022 May 19 doi: 10.1259/bjr.20211333. PMID: 35522773Free PMC Article
Rajan R, Tunkel DE
Clin Perinatol 2018 Dec;45(4):751-767. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.011. PMID: 30396416
Örge FH, Boente CS
Pediatr Clin North Am 2014 Jun;61(3):529-39. doi: 10.1016/j.pcl.2014.03.002. PMID: 24852150
Lowe LH, Booth TN, Joglar JM, Rollins NK
Radiographics 2000 Jul-Aug;20(4):907-22; quiz 1106-7, 1112. doi: 10.1148/radiographics.20.4.g00jl07907. PMID: 10903683
Moore BD
Optom Vis Sci 1994 Mar;71(3):182-3. doi: 10.1097/00006324-199403000-00006. PMID: 8196943

Therapy

Matsuo T, Tanaka T, Yamasaki O
J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619888052. doi: 10.1177/2324709619888052. PMID: 31747798Free PMC Article
Fayet B, Racy E, Katowitz WR, Katowitz JA, Ruban JM, Brémond-Gignac D
J Fr Ophtalmol 2018 Mar;41(3):206-211. Epub 2018 Mar 23 doi: 10.1016/j.jfo.2017.11.009. PMID: 29576330
Schellini SA, Ariki CT, Sousa RL, Weil D, Padovani CR
Ophthalmic Plast Reconstr Surg 2013 Sep-Oct;29(5):389-92. doi: 10.1097/IOP.0b013e31829bb162. PMID: 23924988
Fayet B, Racy E, Renard G
J Fr Ophtalmol 2010 Mar;33(3):145-51. Epub 2010 Feb 24 doi: 10.1016/j.jfo.2010.01.013. PMID: 20185206
Goldberg RA, Heinz GW, Chiu L
Am J Ophthalmol 1993 Jun 15;115(6):738-41. doi: 10.1016/s0002-9394(14)73640-2. PMID: 8506908

Prognosis

Rajan R, Tunkel DE
Clin Perinatol 2018 Dec;45(4):751-767. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.011. PMID: 30396416
Eustis HS, Nguyen AH
J Pediatr Ophthalmol Strabismus 2018 Jan 1;55(1):65-67. Epub 2017 Oct 9 doi: 10.3928/01913913-20170703-08. PMID: 28991351
Theodoropoulou S, Sutherland MS, Haddow K, Blaikie A
J Laryngol Otol 2013 Aug;127(8):794-8. Epub 2013 Jun 27 doi: 10.1017/S0022215113001370. PMID: 23803229
Lorena SH, Silva JA, Scarpi MJ
J Pediatr Ophthalmol Strabismus 2013 Jul-Aug;50(4):239-44. Epub 2013 Apr 30 doi: 10.3928/01913913-20130423-01. PMID: 23614467
Dagi LR, Bhargava A, Melvin P, Prabhu SP
J AAPOS 2012 Jun;16(3):255-60. doi: 10.1016/j.jaapos.2012.01.004. PMID: 22681942

Clinical prediction guides

Ru J, Guo D, Fan J, Zhang J, Ju R, Ouyang H, Wei L, Liu Y, Liu C
Invest Ophthalmol Vis Sci 2020 Nov 2;61(13):6. doi: 10.1167/iovs.61.13.6. PMID: 33141892Free PMC Article
Nemet AY
Semin Ophthalmol 2016;31(3):275-9. Epub 2014 Nov 6 doi: 10.3109/08820538.2014.962163. PMID: 25375763
Satchi K, McNab AA
Ophthalmology 2010 Jan;117(1):180-183.e2. Epub 2009 Oct 28 doi: 10.1016/j.ophtha.2009.06.054. PMID: 19875171
Yuen SJ, Oley C, Sullivan TJ
Ophthalmology 2004 Sep;111(9):1782-90. doi: 10.1016/j.ophtha.2004.02.011. PMID: 15350337
Francis IC, Kappagoda MB, Cole IE, Bank L, Dunn GD
Ophthalmic Plast Reconstr Surg 1999 May;15(3):217-26. doi: 10.1097/00002341-199905000-00013. PMID: 10355842

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