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FGFR1-Related Hartsfield Syndrome.
Dhamija R, Babovic-Vuksanovic D. Dhamija R, et al. 2016 Mar 3 [updated 2022 May 12]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2016 Mar 3 [updated 2022 May 12]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 26937548 Free Books & Documents. Review.
Ectrodactyly spectrum disorders are unilateral or bilateral malformations of the hands and/or feet characterized by a median cleft of hand or foot due to absence of the longitudinal central rays (also called split-hand/foot malformation). ...Some children may require a gas …
Ectrodactyly spectrum disorders are unilateral or bilateral malformations of the hands and/or feet characterized by a median cleft of …
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. ...
PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnorm …
Cleft Palate Repair Postoperative Management: Current Practices in the United States.
Sitzman TJ, Verhey EM, Kirschner RE, Pollard SH, Baylis AL, Chapman KL; Cleft Outcomes Research NETwork (CORNET) Consortium. Sitzman TJ, et al. Cleft Palate Craniofac J. 2022 Dec 19:10556656221146891. doi: 10.1177/10556656221146891. Online ahead of print. Cleft Palate Craniofac J. 2022. PMID: 36536584
OBJECTIVE: To describe current postoperative management practices following cleft palate repair. DESIGN: A survey was administered to cleft surgeons to collect information on their demographic characteristics, surgical training, surgical practice, and postope …
OBJECTIVE: To describe current postoperative management practices following cleft palate repair. DESIGN: A survey was administ …
Long-Term Outcomes for Adult Patients With Cleft Lip and Palate.
Connolly KA, Kurnik NM, Truong TA, Muller C, Beals PH, Singh DJ, Beals SP. Connolly KA, et al. J Craniofac Surg. 2019 Oct;30(7):2048-2051. doi: 10.1097/SCS.0000000000005932. J Craniofac Surg. 2019. PMID: 31524752
The purpose of this study was to evaluate a single center's experience with adult patients who had cleft lip, cleft palate, or both. The authors aimed to identify common long-term needs in this patient population and evaluated the relationship of team- …
The purpose of this study was to evaluate a single center's experience with adult patients who had cleft lip, cleft …
In Search of the Most Attractive Lip Proportions and Lip Volume: An Eye Tracking- and Survey-Based Investigation.
Frank K, Moellhoff N, Swift A, Green JB, Schuster L, Gotkin RH, Hernandez CA, Voropai D, Haas EM, Cotofana S. Frank K, et al. Plast Reconstr Surg. 2022 Aug 1;150(2):301-308. doi: 10.1097/PRS.0000000000009361. Epub 2022 Jun 6. Plast Reconstr Surg. 2022. PMID: 35666164
BACKGROUND: Despite various aesthetic trends, the ideal lip proportion and lip volume remains elusive. Thus, the aim of this study was to investigate the aesthetic perception of various lip shapes to identify the most attractive lips. ...The lip volume …
BACKGROUND: Despite various aesthetic trends, the ideal lip proportion and lip volume remains elusive. Thus, the aim of this s …
Telemedicine in International Cleft Care: A Systematic Review.
Bedi G, Vyas KS, Chung MT, Morrison SD, Asaad M, Mardini S. Bedi G, et al. Cleft Palate Craniofac J. 2021 Dec;58(12):1547-1555. doi: 10.1177/1055665621989140. Epub 2021 Feb 4. Cleft Palate Craniofac J. 2021. PMID: 33535816
BACKGROUND: Cleft lip and cleft palate (CLP) are among the world's most common congenital malformation and has a higher prevalence in developing nations due to environmental and genetic factors. ...METHODS: Systematic review of the PubMed and Cochrane …
BACKGROUND: Cleft lip and cleft palate (CLP) are among the world's most common congenital malformation and has a …
SPECC1L regulates palate development downstream of IRF6.
Hall EG, Wenger LW, Wilson NR, Undurty-Akella SS, Standley J, Augustine-Akpan EA, Kousa YA, Acevedo DS, Goering JP, Pitstick L, Natsume N, Paroya SM, Busch TD, Ito M, Mori A, Imura H, Schultz-Rogers LE, Klee EW, Babovic-Vuksanovic D, Kroc SA, Adeyemo WL, Eshete MA, Bjork BC, Suzuki S, Murray JC, Schutte BC, Butali A, Saadi I. Hall EG, et al. Hum Mol Genet. 2020 Mar 27;29(5):845-858. doi: 10.1093/hmg/ddaa002. Hum Mol Genet. 2020. PMID: 31943082 Free PMC article.
SPECC1L mutations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P). These mutations cluster in the second coiled-coil and calponin homology domains of SPECC1L and severely affect the abilit …
SPECC1L mutations have been identified in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or …
Pharyngeal airway space changes and stability following an extended LeFort-I osteotomy advancement in cleft lip and palate and non-cleft lip and palate patients: A long term comparison study.
Tekin U, Akdeniz BS, Keller EE. Tekin U, et al. J Stomatol Oral Maxillofac Surg. 2022 Apr;123(2):121-127. doi: 10.1016/j.jormas.2021.04.014. Epub 2021 Jun 23. J Stomatol Oral Maxillofac Surg. 2022. PMID: 34157445
PURPOSE: The aim of this study was to evaluate effects of extended maxillary advancement osteotomy on pharyngeal airway space (PAS) in mid-facial deficient cleft lip and palate (CLP) patients and mid-facial deficient non-CLP patients. ...Maxillary advancement …
PURPOSE: The aim of this study was to evaluate effects of extended maxillary advancement osteotomy on pharyngeal airway space (PAS) in mid-f …
Intracranial Aneurysms in Loeys-Dietz Syndrome: A Multicenter Propensity-Matched Analysis.
Perez-Vega C, Domingo RA, Tripathi S, Ramos-Fresnedo A, Martínez Santos JL, Rahme RJ, Freeman WD, Sandhu SS, Miller DA, Bendok BR, Brinjikji W, Quinones-Hinojosa A, Meyer FB, Tawk RG, Fox WC. Perez-Vega C, et al. Neurosurgery. 2022 Oct 1;91(4):541-546. doi: 10.1227/neu.0000000000002070. Epub 2022 Jul 14. Neurosurgery. 2022. PMID: 35876667
BACKGROUND: Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by a classic triad of hypertelorism, bifid uvula and/or cleft palate, and generalized arterial tortuosity. There are limited data on the prevalence and rupture r …
BACKGROUND: Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by a classic triad of hypertelorism …
A Systematic Review of the Use of Telemedicine in Plastic and Reconstructive Surgery and Dermatology.
Vyas KS, Hambrick HR, Shakir A, Morrison SD, Tran DC, Pearson K, Vasconez HC, Mardini S, Gosman AA, Dobke M, Granick MS. Vyas KS, et al. Ann Plast Surg. 2017 Jun;78(6):736-768. doi: 10.1097/SAP.0000000000001044. Ann Plast Surg. 2017. PMID: 28328635 Review.
Twenty-three articles met the inclusion criteria in plastic surgery (7 wound management, 5 burn management, 5 trauma, 4 free flap care, 2 in cleft lip/palate repair). Twenty-three (100%) reported a benefit of telemedicine often related to improved postoperati …
Twenty-three articles met the inclusion criteria in plastic surgery (7 wound management, 5 burn management, 5 trauma, 4 free flap care, 2 in …
62 results