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Quoted phrase not found in phrase index: "Highly arched eyebrow"
Page 1
Chromosome 2q37 deletion: clinical and molecular aspects.
Falk RE, Casas KA. Falk RE, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):357-71. doi: 10.1002/ajmg.c.30153. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910077 Review.
The stereotypic facial characteristics include prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae. ...
The stereotypic facial characteristics include prominent forehead, thin, highly arched eyebrows, depressed nasal bridge …
Child with cerebral malformations and epilepsy.
Sun Y, Shen X, Li Q, Kong Q. Sun Y, et al. Int J Neurosci. 2018 Sep;128(9):881-885. doi: 10.1080/00207454.2018.1433177. Epub 2018 Mar 6. Int J Neurosci. 2018. PMID: 29372643
To screen the beta-actin gene (ACTB) of a newly diagnosed child, hoping to find the gene mutation. RESULTS: The child had left ptosis, ocular hypertelorism, arched eyebrows, only 30% of the left ear hearing, a slight hypotonia, normal muscle strength, walking instab …
To screen the beta-actin gene (ACTB) of a newly diagnosed child, hoping to find the gene mutation. RESULTS: The child had left ptosis, ocula …
Clinical and molecular spectrum of CHOPS syndrome.
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K. Raible SE, et al. Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31058441 Free PMC article.
All 11 individuals presented with features reminiscent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched eyebrows, and long eyelashes. All 11 individuals had short stature and obesity. ...Additionally, we report three novel missense mutatio …
All 11 individuals presented with features reminiscent of Cornelia de Lange syndrome such as synophrys, upturned nasal tip, arched …
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.
Ashton CJ, Perveen R, Beaman G, Crisponi G, González-Del Angel A, Garza-Mayén G, Alcántara-Ortigoza MA, O'Sullivan J, Clayton-Smith J. Ashton CJ, et al. Clin Dysmorphol. 2023 Jan 1;32(1):7-13. doi: 10.1097/MCD.0000000000000443. Epub 2022 Nov 28. Clin Dysmorphol. 2023. PMID: 36503917
Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptosis. A significant number of patients have bilateral cleft lip and palate and they often exhibit genitourinary and skeletal anomalies. ...
Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptos …
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S, Milani D, Rusconi D, Negri G, Colapietro P, Elcioglu N, Bedeschi F, Pilotta A, Spaccini L, Ficcadenti A, Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C. Spena S, et al. Clin Genet. 2015 Nov;88(5):431-40. doi: 10.1111/cge.12537. Epub 2014 Dec 9. Clin Genet. 2015. PMID: 25388907
The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in RSTS diagnosis, now could be considered. ...
The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertr …
Duplication 10p in a girl due to a maternal translocation t(10;14) (p11:p12).
Gonzalez CH, Billerbeck AE, Takayama LC, Wajntal A. Gonzalez CH, et al. Am J Med Genet. 1983 Jan;14(1):159-67. doi: 10.1002/ajmg.1320140122. Am J Med Genet. 1983. PMID: 6829605
It is a specific multiple congenital anomalies/mental retardation (MCA/MR) syndrome which includes characteristic facial appearance (dolichocephaly, frontal bossing, short nose with a broad root, highly arched and upswept eyebrows, long philtrum, and thin lip …
It is a specific multiple congenital anomalies/mental retardation (MCA/MR) syndrome which includes characteristic facial appearance (dolicho …
Faciocardiorenal syndrome: a wide clinical spectrum?
Brambila Tapia AJ, Vásquez Velásque AI, González Mercado MG, Macías Chumacera A, Gutierrez-Amavizca BE, Lara Aguilar RA, Pérez Juárez CR, Moreno Andrade A, Figuera LE. Brambila Tapia AJ, et al. Genet Couns. 2012;23(1):51-6. Genet Couns. 2012. PMID: 22611642
We report a 7 months male patient, with the diagnosis of endocardial fibroelastosis, an abnormal facial appearance (arched eyebrows, broad nasal root, long philtrum and microretrognathia) and psychomotor delay. ...Based on these findings and on the few previously re …
We report a 7 months male patient, with the diagnosis of endocardial fibroelastosis, an abnormal facial appearance (arched eyebrow …
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?
Al Kaissi A, Klaushofer K, Safi H, Chehida FB, Ghachem MB, Chaabounni M, Hennekam RC. Al Kaissi A, et al. Am J Med Genet A. 2007 Feb 15;143(4):349-54. doi: 10.1002/ajmg.a.31610. Am J Med Genet A. 2007. PMID: 17236195
A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymm …
A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the …