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Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal. ...Typical dysmorphic features include long palpebral fissures wit …
Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic c …
Molecular Genetic Analysis and Growth Hormone Treatment in a Three-Generation Chinese Family with Tricho-Rhino-Phalangeal Syndrome I.
Yan Y, Huang S, Huang L, Zhang J, Li S, Zhang C, Luo X. Yan Y, et al. Horm Res Paediatr. 2024;97(1):28-39. doi: 10.1159/000530414. Epub 2023 Mar 29. Horm Res Paediatr. 2024. PMID: 36990068
INTRODUCTION: Tricho-rhino-phalangeal syndrome (TRPS) is a rare genetic disorder characterized by craniofacial and skeletal abnormalities, which is caused by variants in the TRPS1 gene. METHODS: Clinical information and follow-up data were collected. ...RESULTS: The affect …
INTRODUCTION: Tricho-rhino-phalangeal syndrome (TRPS) is a rare genetic disorder characterized by craniofacial and skeletal abnormalities …
Presurgical columellar elongation and primary retrograde nasal reconstruction in one-stage bilateral cleft lip and nose repair.
Cutting C, Grayson B, Brecht L, Santiago P, Wood R, Kwon S. Cutting C, et al. Plast Reconstr Surg. 1998 Mar;101(3):630-9. doi: 10.1097/00006534-199803000-00009. Plast Reconstr Surg. 1998. PMID: 9500379
A coordinated surgical approach involves a one-stage repair of the lip, nose, and alveolus. The nasal repair uses a retrograde approach in which the prolabial flap and columella are reflected over the nasal dorsum by continuing the dissection behind the prola …
A coordinated surgical approach involves a one-stage repair of the lip, nose, and alveolus. The nasal repair uses a retrograde …
The two essential elements for planning tip surgery in primary and secondary rhinoplasty: observations based on review of 100 consecutive patients.
Constantian MB. Constantian MB. Plast Reconstr Surg. 2004 Nov;114(6):1571-81; discussion 1582-5. doi: 10.1097/01.prs.0000138755.00167.f5. Plast Reconstr Surg. 2004. PMID: 15509952 Review.
Nasal tip surgery has become significantly more complex since the introduction of tip grafting and the many suture designs that followed the resurgence of open rhinoplasty. ...When tip projection and lateral crural orientation are accurately determined …
Nasal tip surgery has become significantly more complex since the introduction of tip grafting and the many suture desi …
Presenting concerns and surgical management of secondary rhinoplasty.
Nassab R, Matti B. Nassab R, et al. Aesthet Surg J. 2015 Feb;35(2):137-44. doi: 10.1093/asj/sju026. Epub 2015 Feb 4. Aesthet Surg J. 2015. PMID: 25653241
The mean number of previous procedures was 1.6 (range, 1-8). Chief presenting concerns were asymmetry (36.7%), large tip (24.8%), and breathing difficulties (22.0%). The most common clinical findings were nostril asymmetry (33.9%), septal deviation (32.1%), overresection ( …
The mean number of previous procedures was 1.6 (range, 1-8). Chief presenting concerns were asymmetry (36.7%), large tip (24.8%), and …
Reconstruction of nasal tip support in primary, open approach septorhinoplasty : A retrospective analysis between the tongue-in-groove technique and the columellar strut.
Karaiskakis P, Bromba M, Dietz A, Sand M, Dacho A. Karaiskakis P, et al. Eur Arch Otorhinolaryngol. 2016 Sep;273(9):2555-60. doi: 10.1007/s00405-016-3911-y. Epub 2016 Feb 4. Eur Arch Otorhinolaryngol. 2016. PMID: 26846403
The reconstruction of the nasal tip support is one of the most essential issues in septorhinoplasty. ...The tongue-in-groove technique and the columellar strut technique are both reliable techniques for reconstructing the nasal tip support and correcti …
The reconstruction of the nasal tip support is one of the most essential issues in septorhinoplasty. ...The tongue-in-groove t …
Isolated Unilateral Frontosphenoidal Suture Synostosis in Six Patients: Lessons Learned in Diagnosis and Treatment.
Lloyd MS, Rodrigues D, Nishikawa H, White N, Solanki G, Noons P, Evans M, Dover S. Lloyd MS, et al. J Craniofac Surg. 2016 Jun;27(4):871-3. doi: 10.1097/SCS.0000000000002559. J Craniofac Surg. 2016. PMID: 27152571
METHODS: Patients with isolated frontosphenoidal suture craniosynostosis were selected from a retrospective review of 88 patients with unicoronal synostosis treated during a 3-year period. Two-dimensional photography of patients' soft tissue morphology from the vertex view …
METHODS: Patients with isolated frontosphenoidal suture craniosynostosis were selected from a retrospective review of 88 patients with unico …
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. ...Main features defini …
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused …
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal tip with a broad nasal root, and a thin upper and a full lower lip were observed more often in mutation positive patients....
Several typical facial features such as large dysplastic ears, arched eyebrows with sparse lateral third, blue sclerae, a flat nasal …
Presurgical nasoalveolar molding therapy for the treatment of bilateral cleft lip and palate: A preliminary study.
Spengler AL, Chavarria C, Teichgraeber JF, Gateno J, Xia JJ. Spengler AL, et al. Cleft Palate Craniofac J. 2006 May;43(3):321-8. doi: 10.1597/05-093.1. Cleft Palate Craniofac J. 2006. PMID: 16681405
INTERVENTIONS: The starting age for presurgical nasoalveolar molding therapy was 34.9 days and the average length of the therapy was 212.5 days. ...It improves the nasal asymmetry and deficient nasal tip projection associated with bilateral clef …
INTERVENTIONS: The starting age for presurgical nasoalveolar molding therapy was 34.9 days and the average length of the therapy …
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