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20 results

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Page 1
3M syndrome: A Tunisian seven-cases series.
Khachnaoui-Zaafrane K, Ouertani I, Zanati A, Kandara H, Maazoul F, Mrad R. Khachnaoui-Zaafrane K, et al. Eur J Med Genet. 2022 Mar;65(3):104448. doi: 10.1016/j.ejmg.2022.104448. Epub 2022 Feb 9. Eur J Med Genet. 2022. PMID: 35150935
All patients presented facial dysmorphia of 3MS, with a prominent forehead (7/7), a triangular face (6/7), an underdeveloped midface (7/7), a fleshy tipped nose (5/7), anteverted nares (6/7), a long philtrum (7/7) and full lips (4/7). All the patients presented skel …
All patients presented facial dysmorphia of 3MS, with a prominent forehead (7/7), a triangular face (6/7), an underdeveloped midface (7/7), …
Cornelia de Lange syndrome in diverse populations.
Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Dowsett L, et al. Am J Med Genet A. 2019 Feb;179(2):150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6. Am J Med Genet A. 2019. PMID: 30614194 Free PMC article.
The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. ...The most common facial features found in all ancestry group …
The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted …
Clinical and Molecular genetics of Stickler syndrome.
Snead MP, Yates JR. Snead MP, et al. J Med Genet. 1999 May;36(5):353-9. J Med Genet. 1999. PMID: 10353778 Free PMC article. Review.
Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and micrognathia. These features can become less pronounced with age. ...
Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and m …
Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
Choi SA, Lee HS, Park TJ, Park S, Ko YJ, Kim SY, Lim BC, Kim KJ, Chae JH. Choi SA, et al. Brain Dev. 2021 Oct;43(9):912-918. doi: 10.1016/j.braindev.2021.05.009. Epub 2021 Jun 8. Brain Dev. 2021. PMID: 34116881
Distinctive facial features of open-tented upper vermilion, long philtrum, and anteverted nares and poor visual fixation and tracking with or without nystagmus were most commonly found (5/7, 71.4%). ...
Distinctive facial features of open-tented upper vermilion, long philtrum, and anteverted nares and poor visual fixation and t …
Fetal Valproate Syndrome - Still a Problem Today!
Wiedemann K, Stüber T, Rehn M, Frieauff E. Wiedemann K, et al. Z Geburtshilfe Neonatol. 2017 Oct;221(5):243-246. doi: 10.1055/s-0043-107619. Epub 2017 Oct 26. Z Geburtshilfe Neonatol. 2017. PMID: 29073690 English.
Physical examination showed even in the premature infant typical signs of fetal valproate syndrome with trigonocephaly, epicanthal folds, broad root of the nose, low-set ears, thin upper lip and anteverted nares. In the second case, the gravida was under antiepilept …
Physical examination showed even in the premature infant typical signs of fetal valproate syndrome with trigonocephaly, epicanthal folds, br …
Classical lissencephaly syndromes: does the face reflect the brain?
Allanson JE, Ledbetter DH, Dobyns WB. Allanson JE, et al. J Med Genet. 1998 Nov;35(11):920-3. doi: 10.1136/jmg.35.11.920. J Med Genet. 1998. PMID: 9832039 Free PMC article.
Eyes are widely spaced with upward slanting fissures. The nose is very short with anteverted nares. The upper lip is long, wide, and thick. The ears may have minor flattening of the helices. ...
Eyes are widely spaced with upward slanting fissures. The nose is very short with anteverted nares. The upper lip is long, wid …
De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R, Splitt M, Genevieve D, Aten E, Collins A, de Bie CI, Faivre L, Foulds N, Giltay J, Ibitoye R, Joss S, Kennedy J, Kerr B, Kivuva E, Koopmans M, Newbury-Ecob R, Jean-Marçais N, Peeters EAJ, Smithson S, Tomkins S, Tranmauthem F, Piton A, van Haeringen A. Martin R, et al. Eur J Hum Genet. 2019 Nov;27(11):1677-1682. doi: 10.1038/s41431-019-0413-6. Epub 2019 Jun 14. Eur J Hum Genet. 2019. PMID: 31201375 Free PMC article.
There is no easily recognisable facial phenotype, but some common dysmorphic features such as anteverted nares, thin upper lip and low set eyebrows were shared among some of the probands. ...
There is no easily recognisable facial phenotype, but some common dysmorphic features such as anteverted nares, thin upper lip …
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
Nowaczyk MJ, Tan M, Hamid JS, Allanson JE. Nowaczyk MJ, et al. Am J Med Genet A. 2012 May;158A(5):1020-8. doi: 10.1002/ajmg.a.35285. Epub 2012 Mar 21. Am J Med Genet A. 2012. PMID: 22438180
A characteristic craniofacial pattern profile was universally present: narrow forehead, brachycephaly, short palpebral fissures, short nasal ridge, anteverted nares, flat face, normal jaw width, and retrognathia. The facial measurements of subjects with SLOS had hig …
A characteristic craniofacial pattern profile was universally present: narrow forehead, brachycephaly, short palpebral fissures, short nasal …
Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling.
Liu C, Li D, Yang H, Li H, Xu Q, Zhou B, Hu C, Li C, Wang Y, Qiao Z, Jiang YH, Xu X. Liu C, et al. Prog Neurobiol. 2021 May;200:101985. doi: 10.1016/j.pneurobio.2020.101985. Epub 2020 Dec 31. Prog Neurobiol. 2021. PMID: 33388374 Free PMC article.
Phenotypically, we reported several new features in Chinese SHANK3 deficient children including anteverted nares, sensory stimulation seeking, dental abnormalities and hematological problems. ...
Phenotypically, we reported several new features in Chinese SHANK3 deficient children including anteverted nares, sensory stim …
Abnormal eruption of teeth in relation to FGFR1 heterozygote mutation: a rare case of osteoglophonic dysplasia with 4-year follow-up.
Zou Y, Lin H, Chen W, Chang L, Cai S, Lu YG, Xu L. Zou Y, et al. BMC Oral Health. 2022 Feb 11;22(1):36. doi: 10.1186/s12903-022-02069-6. BMC Oral Health. 2022. PMID: 35148738 Free PMC article.
The details of the 4-year follow-up showed that the signs of OD were more pronounced, including dwarfism, frontal bossing, delayed skeletal maturation, anteverted nares, micrognathia, and prominent ears, but the patient's impacted teeth and edentulous jaws remained …
The details of the 4-year follow-up showed that the signs of OD were more pronounced, including dwarfism, frontal bossing, delayed skeletal …
20 results