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Popliteal Pterygium Syndrome With Syngnathia.
Sisti A, Freda N, Giacomina A, Gatti GL. Sisti A, et al. J Craniofac Surg. 2017 May;28(3):e250-e251. doi: 10.1097/SCS.0000000000003473. J Craniofac Surg. 2017. PMID: 28468208
Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. ...The case of our patient is very interesting because there have been few reported patients affected by po …
Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobilit …
Van der Woude and Popliteal Pterygium Syndromes.
Bennun RD, Stefano E, Moggi LE. Bennun RD, et al. J Craniofac Surg. 2018 Sep;29(6):1434-1436. doi: 10.1097/SCS.0000000000004698. J Craniofac Surg. 2018. PMID: 29916977
The lower lip pits with or without cleft lip and/or palate is typical of this syndrome. Popliteal pterygium syndrome (PPS), also known as popliteal web syndrome or fasciogenito-popliteal syndrome, was first described by Trelat in 1869, the incid …
The lower lip pits with or without cleft lip and/or palate is typical of this syndrome. Popliteal pterygium syndrome …
IRF6 and AP2A Interaction Regulates Epidermal Development.
Kousa YA, Fuller E, Schutte BC. Kousa YA, et al. J Invest Dermatol. 2018 Dec;138(12):2578-2588. doi: 10.1016/j.jid.2018.05.030. Epub 2018 Jun 18. J Invest Dermatol. 2018. PMID: 29913133 Free PMC article.
Variants in IRF6 can lead to Van der Woude syndrome and popliteal pterygium syndrome. Furthermore, genes upstream and downstream of IRF6, including GRHL3 and TP63, are also associated with orofacial clefting. ...
Variants in IRF6 can lead to Van der Woude syndrome and popliteal pterygium syndrome. Furthermore, genes upstream and d …
Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Alade AA, Buxo-Martinez CJ, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Awotoye WA, Adeleke C, Busch T, Toraño AM, Bello CA, Soto M, Soto M, Ledesma R, Marquez M, Cordero JF, Lopez-Del Valle LM, Salcedo MI, Debs N, Li M, Petrin A, Olotu J, Aldous C, Olutayo J, Ogunlewe MO, Abate F, Hailu T, Muhammed I, Gravem P, Deribew M, Gesses M, Hassan M, Pape J, Adeniyan OA, Obiri-Yeboah S, Arthur FKN, Oti AA, Olatosi O, Miller SE, Donkor P, Dunnwald MM, Marazita ML, Adeyemo AA, Murray JC, Butali A. Alade AA, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1355. doi: 10.1002/mgg3.1355. Epub 2020 Jun 17. Mol Genet Genomic Med. 2020. PMID: 32558391 Free PMC article. Review.
METHODS: We used PubMed with the search terms; "Van der Woude syndrome," "Popliteal pterygium syndrome," "IRF6," and "Orofacial cleft" to identify eligible studies. ...
METHODS: We used PubMed with the search terms; "Van der Woude syndrome," "Popliteal pterygium syndrome," "IRF6," …
Signs indicating dementia in Down, Williams and Fragile X syndromes.
Sauna-Aho O, Bjelogrlic-Laakso N, Siren A, Arvio M. Sauna-Aho O, et al. Mol Genet Genomic Med. 2018 Sep;6(5):855-860. doi: 10.1002/mgg3.430. Epub 2018 Jul 3. Mol Genet Genomic Med. 2018. PMID: 29971948 Free PMC article. Clinical Trial.
METHODS: Using the British Present Psychiatric State-learning Disabilities assessment (PPS-LD) questionnaire the dementia signs were screened in 62, 22 and 44 individuals (> 35 year of age) with Down (DS, OMIM number 190685), Williams (WS, OMIM number, 194050), and Frag …
METHODS: Using the British Present Psychiatric State-learning Disabilities assessment (PPS-LD) questionnaire the dementia signs were …
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
Busche A, Hehr U, Sieg P, Gillessen-Kaesbach G. Busche A, et al. Am J Med Genet A. 2016 Sep;170(9):2404-7. doi: 10.1002/ajmg.a.37791. Epub 2016 Jun 10. Am J Med Genet A. 2016. PMID: 27286731
In some patients oral synechiae or eyelid synechiae are present. Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. ...The newborn index patient had a diagnosis of …
In some patients oral synechiae or eyelid synechiae are present. Van der Woude Syndrome and Popliteal pterygium syndrome …
Computational simulation of postoperative pulmonary flow distribution in Alagille patients with peripheral pulmonary artery stenosis.
Yang W, Hanley FL, Chan FP, Marsden AL, Vignon-Clementel IE, Feinstein JA. Yang W, et al. Congenit Heart Dis. 2018 Mar;13(2):241-250. doi: 10.1111/chd.12556. Epub 2017 Dec 1. Congenit Heart Dis. 2018. PMID: 29194961
BACKGROUND: Up to 90% of individuals with Alagille syndrome have congenital heart diseases. Peripheral pulmonary artery stenosis (PPS), resulting in right ventricular hypertension and pulmonary flow disparity, is one of the most common abnormalities, yet the hemodynamic ef …
BACKGROUND: Up to 90% of individuals with Alagille syndrome have congenital heart diseases. Peripheral pulmonary artery stenosis (PPS …
Prune perineum surgical correction - Treatment of a rare syndrome.
Berjeaut RH, Cezarino BN, Lopes RI, Dénes FT. Berjeaut RH, et al. J Pediatr Urol. 2020 Oct;16(5):723-724. doi: 10.1016/j.jpurol.2020.08.013. Epub 2020 Aug 19. J Pediatr Urol. 2020. PMID: 32878729
INTRODUCTION: Prune Perineum Syndrome (PPS) is rare, with only three cases described in the literature. Treatment requires abdominal and pelvic surgeries. ...MATERIALS AND METHODS: We present a case of an 8 months-old boy with PPS. At our first evaluation, he had al …
INTRODUCTION: Prune Perineum Syndrome (PPS) is rare, with only three cases described in the literature. Treatment requires abdominal …
Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature.
Eliezer DD, Goel H, Turner VM, Deshpande A. Eliezer DD, et al. BMJ Case Rep. 2019 Sep 4;12(9):e229938. doi: 10.1136/bcr-2019-229938. BMJ Case Rep. 2019. PMID: 31488442 Free PMC article.
Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and …
Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the …
12 results