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Malformed lacrimal duct

MedGen UID:
870314
Concept ID:
C4024757
Anatomical Abnormality
Synonym: Malformed lacrimal ducts
 
HPO: HP:0007993

Definition

Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. [from HPO]

Term Hierarchy

Conditions with this feature

Fraser syndrome 1
MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.

Professional guidelines

PubMed

Sasaki T, Matsumura N, Miyazaki C, Kamao T, Yokoi N, Fujimoto M, Hayami M, Iwasaki A, Mimura M, Murata A, Nakayama T, Shinomiya K, Tanaka H, Ueta Y; Congenital Nasolacrimal Duct Obstruction: Clinical Guideline Preparation Team; Committee for Congenital Nasolacrimal Duct Obstruction Clinical Guideline
Jpn J Ophthalmol 2024 Jul;68(4):367-388. Epub 2024 Aug 16 doi: 10.1007/s10384-024-01064-4. PMID: 39150609
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Nelson LB
J Pediatr Ophthalmol Strabismus 2016 Sep 1;53(5):270. doi: 10.3928/01913913-20160829-01. PMID: 27637019

Recent clinical studies

Etiology

Kumar NR, Praveen M, Narasimhan R, Khamar P, D'Souza S, Sinha-Roy A, Sethu S, Shetty R, Ghosh A
Indian J Ophthalmol 2023 Apr;71(4):1190-1202. doi: 10.4103/IJO.IJO_2981_22. PMID: 37026250Free PMC Article
Terrell JA, Mudie LI, Williams KJ, Yen MT
Ophthalmic Plast Reconstr Surg 2023 May-Jun 01;39(3):e87-e89. Epub 2023 Feb 21 doi: 10.1097/IOP.0000000000002341. PMID: 36805645
Millett M, Hyasat JG, Lueder GT
Ophthalmic Genet 2023 Aug;44(4):401-402. Epub 2023 Jan 13 doi: 10.1080/13816810.2022.2127151. PMID: 36636984
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959
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Diagnosis

Zhao Z, Allen RC
Orbit 2022 Apr;41(2):162-169. Epub 2021 Sep 5 doi: 10.1080/01676830.2021.1974057. PMID: 34486478
Chan T, Chen S
J Pediatr Ophthalmol Strabismus 2021 May-Jun;58(3):141. Epub 2021 May 1 doi: 10.3928/01913913-20210330-01. PMID: 34039168
Pujari A
BMJ Case Rep 2016 Dec 9;2016 doi: 10.1136/bcr-2016-218029. PMID: 27941115Free PMC Article
Örge FH, Boente CS
Pediatr Clin North Am 2014 Jun;61(3):529-39. doi: 10.1016/j.pcl.2014.03.002. PMID: 24852150
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959

Therapy

Kumar NR, Praveen M, Narasimhan R, Khamar P, D'Souza S, Sinha-Roy A, Sethu S, Shetty R, Ghosh A
Indian J Ophthalmol 2023 Apr;71(4):1190-1202. doi: 10.4103/IJO.IJO_2981_22. PMID: 37026250Free PMC Article
Periman LM, Perez VL, Saban DR, Lin MC, Neri P
J Ocul Pharmacol Ther 2020 Apr;36(3):137-146. Epub 2020 Mar 12 doi: 10.1089/jop.2019.0060. PMID: 32175799Free PMC Article
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959
Miller MT, Ventura L, Strömland K
Birth Defects Res A Clin Mol Teratol 2009 Aug;85(8):667-76. doi: 10.1002/bdra.20609. PMID: 19639653
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Prognosis

Whittington A, Stein S, Kenner-Bell B
Pediatr Dermatol 2016 Sep;33(5):e322-6. Epub 2016 Jul 28 doi: 10.1111/pde.12938. PMID: 27469932
Spaniol K, Stupp T, Melcher C, Beheiri N, Eter N, Prokosch V
Am J Perinatol 2015 Feb;32(3):271-6. Epub 2014 Jun 27 doi: 10.1055/s-0034-1383847. PMID: 24971571
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R
Ophthalmic Plast Reconstr Surg 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. PMID: 19033859
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Clinical prediction guides

Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, Marchisio PG, Crosti F, Pezzani L
Clin Genet 2024 Mar;105(3):313-316. Epub 2023 Nov 22 doi: 10.1111/cge.14455. PMID: 37990933
Sarbajna T, Takahashi Y, Paula Valencia MR, Ana-Magadia MG, Ishikawa E, Kakizaki H
Int J Pediatr Otorhinolaryngol 2018 Dec;115:54-57. Epub 2018 Sep 19 doi: 10.1016/j.ijporl.2018.09.017. PMID: 30368393
Takahashi Y, Kakizaki H, Chan WO, Selva D
Acta Ophthalmol 2010 Aug;88(5):506-13. Epub 2009 Jul 21 doi: 10.1111/j.1755-3768.2009.01592.x. PMID: 19681790
Miller MT, Ventura L, Strömland K
Birth Defects Res A Clin Mol Teratol 2009 Aug;85(8):667-76. doi: 10.1002/bdra.20609. PMID: 19639653
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Recent systematic reviews

Eshraghi B, Babaei L, Moradi M, Chaibakhsh S, Aghajani A
Graefes Arch Clin Exp Ophthalmol 2024 Jul;262(7):1993-2004. Epub 2023 Dec 7 doi: 10.1007/s00417-023-06318-4. PMID: 38059998
Bzdega K, Karolak JA
PeerJ 2022;10:e14003. Epub 2022 Sep 14 doi: 10.7717/peerj.14003. PMID: 36124135Free PMC Article
Xiang Q, Gao X, Chen X, Qi J, Fang J
J Pediatr Ophthalmol Strabismus 2019 Nov 1;56(6):365-372. doi: 10.3928/01913913-20190923-04. PMID: 31743404

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