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Slanting of the palpebral fissure

MedGen UID:
412676
•Concept ID:
C2748932
•
Finding
Synonyms: Slanted palpebral fissures; Slanting palpebral fissures
 
HPO: HP:0200006

Professional guidelines

PubMed

Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K
Genes (Basel) 2023 Dec 24;15(1) doi: 10.3390/genes15010029. PMID: 38254920Free PMC Article
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM
Horm Res 2004;62(4):197-207. Epub 2004 Sep 24 doi: 10.1159/000081063. PMID: 15452385

Recent clinical studies

Etiology

Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K
Genes (Basel) 2023 Dec 24;15(1) doi: 10.3390/genes15010029. PMID: 38254920Free PMC Article
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Ocular manifestations of Donnai-Barrow syndrome.
Patel N, Hejkal T, Katz A, Margalit E
J Child Neurol 2007 Apr;22(4):462-4. doi: 10.1177/0883073807301933. PMID: 17621530
New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy.
Verloes A, Lesenfants S
Clin Dysmorphol 2001 Jan;10(1):29-31. doi: 10.1097/00019605-200101000-00006. PMID: 11152144
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774

Diagnosis

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A
Eur J Med Genet 2022 Nov;65(11):104624. Epub 2022 Sep 18 doi: 10.1016/j.ejmg.2022.104624. PMID: 36130690
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Noonan syndrome.
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article
The cardiofaciocutaneous syndrome.
Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G
J Med Genet 2006 Nov;43(11):833-42. Epub 2006 Jul 6 doi: 10.1136/jmg.2006.042796. PMID: 16825433Free PMC Article

Therapy

A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.
El Halabi T, Dirani M, Hotait M, Nasreddine W, Beydoun A
Epilepsia Open 2021 Mar;6(1):73-78. Epub 2021 Jan 7 doi: 10.1002/epi4.12451. PMID: 33681650Free PMC Article
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.
Ni X, Jin C, Jiang Y, Wang O, Li M, Xing X, Xia W
BMC Med Genet 2020 Oct 31;21(1):214. doi: 10.1186/s12881-020-01154-3. PMID: 33129265Free PMC Article
Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants.
Venkatesan C, Angle B, Millichap JJ
Epileptic Disord 2016 Jun 1;18(2):195-200. doi: 10.1684/epd.2016.0828. PMID: 27248490
EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
Li C, Chen R, Fan X, Luo J, Qian J, Wang J, Xie B, Shen Y, Chen S
BMC Med Genet 2015 Apr 11;16:23. doi: 10.1186/s12881-015-0165-2. PMID: 25928000Free PMC Article
Anticipatory guidance for parents of Prader-Willi children.
Nolan ME
Pediatr Nurs 2003 Nov-Dec;29(6):427-30, 451. PMID: 14743837

Prognosis

Cat eye syndrome.
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Noonan syndrome.
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article
New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy.
Verloes A, Lesenfants S
Clin Dysmorphol 2001 Jan;10(1):29-31. doi: 10.1097/00019605-200101000-00006. PMID: 11152144
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774
Complete trisomy 22.
Shokeir MH
Clin Genet 1978 Sep;14(3):139-46. doi: 10.1111/j.1399-0004.1978.tb02119.x. PMID: 568044

Clinical prediction guides

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.
Neri S, Maia N, Fortuna AM, Damasio J, Coale E, Willis M, Jorge P, Højte AF, Fenger CD, Møller RS, Bayat A
Eur J Med Genet 2022 Nov;65(11):104624. Epub 2022 Sep 18 doi: 10.1016/j.ejmg.2022.104624. PMID: 36130690
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Craniofacial characterization of Marfan Syndrome.
Johnson CM, Spruiell B, Wiesen C, Pimenta LA, Vann W, Frazier-Bowers SA
Orthod Craniofac Res 2019 May;22 Suppl 1:56-61. doi: 10.1111/ocr.12295. PMID: 31074139
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH
Am J Med Genet Suppl 1990;6:3-16. doi: 10.1002/ajmg.1320370603. PMID: 2118774
FG syndrome in a premature male.
Bianchi DW
Am J Med Genet 1984 Oct;19(2):383-6. doi: 10.1002/ajmg.1320190221. PMID: 6507484

Recent systematic reviews

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
Am J Med Genet A 2023 Jun;191(6):1639-1645. Epub 2023 Mar 20 doi: 10.1002/ajmg.a.63186. PMID: 36941760
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Simmers R, Goodwin A, Al Saif H, Couser N
Ophthalmic Genet 2022 Oct;43(5):699-702. Epub 2022 Jun 27 doi: 10.1080/13816810.2022.2089358. PMID: 35762114

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