File:Individuals who have Snijders Blok-Campeau syndrome.jpg
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Summary
| Description |
English: Photographs of individuals affected by Snijders Blok-Campeau syndrome. Facial photographs showing dysmorphisms in 18 individuals with de novo CHD3 mutations. The majority of individuals have macrocephaly with a prominent or bossing forehead, individual 5 has microcephaly. Hypertelorism or telecanthus is common, often accompanied by narrow palpebral fissures, deep-set eyes, peri-orbital fullness, and/or epicanthal folds. The combination of macrocephaly and deep-set eyes leads to a more prominent supra-orbital ridge. Some individuals show midface hypoplasia. Many individuals have low-set ears that can be posteriorly rotated, and sometimes simple with thick helices. A broad nasal base, prominent nose, a bifid nasal tip, and characteristic pointy chin is also frequently seen, as well as laterally sparse eyebrows |
| Date | |
| Source | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476/figure/Fig1/ |
| Author | Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. |
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Assessment
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This image has been assessed under the valued image criteria and is considered the most valued image on Commons within the scope: Snijders Blok-Campeau syndrome. You can see its nomination here. |
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File history
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| Date/Time | Thumbnail | Dimensions | User | Comment | |
|---|---|---|---|---|---|
| current | 09:40, 20 July 2022 |  | 700 × 936 (178 KB) | Explodingcreepsr | Uploaded a work by Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentze... |
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