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Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M. Niceta M, et al. Clin Genet. 2020 Feb;97(2):362-369. doi: 10.1111/cge.13651. Epub 2019 Nov 3. Clin Genet. 2020. PMID: 31600839
Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, even though these features have not been a …
Major clinical features of AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and a distinctive flat …
A reappraisal of the CHARGE association.
Oley CA, Baraitser M, Grant DB. Oley CA, et al. J Med Genet. 1988 Mar;25(3):147-56. doi: 10.1136/jmg.25.3.147. J Med Genet. 1988. PMID: 3351900 Free PMC article.
A characteristic facial appearance (unusually shaped ears, unilateral facial palsy, square face, malar flattening, pinched nostrils) was observed in many of our cases. ...
A characteristic facial appearance (unusually shaped ears, unilateral facial palsy, square face, malar flattening, pinched nos …
Modified superficial musculoaponeurotic system face-lift: a review of 327 consecutive procedures and a patient satisfaction assessment.
Castello MF, Lazzeri D, Silvestri A, Agostini T, Gigliotti D, Marcelli C, D'Aniello C, Gasparotti M. Castello MF, et al. Aesthetic Plast Surg. 2011 Apr;35(2):147-55. doi: 10.1007/s00266-010-9567-x. Epub 2010 Sep 25. Aesthetic Plast Surg. 2011. PMID: 20871998
High vertical elevation of the SMAS flap delivers a long-lasting benefit and addresses the problem of neck laxity and platysma redundancy, leading to a correction of the neck contouring and jowls. Nasolabial folds appear to be smoothed, and malar flattening is resto …
High vertical elevation of the SMAS flap delivers a long-lasting benefit and addresses the problem of neck laxity and platysma redundancy, l …
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S. Bartholdi D, et al. Am J Med Genet A. 2014 May;164A(5):1277-83. doi: 10.1002/ajmg.a.36439. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664804 Free article.
In addition, they had pronounced feeding difficulties in early infancy. They displayed similar facial features such as malar flattening, a prominent nose with underdeveloped alae nasi, a smooth philtrum, and a thin vermillion of the upper lip. ...However, heterozygo …
In addition, they had pronounced feeding difficulties in early infancy. They displayed similar facial features such as malar flatt …