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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1960 1
1961 1
1964 3
1965 2
1966 1
1970 2
1975 2
1976 1
1978 1
1979 4
1980 1
1981 7
1982 4
1983 8
1984 9
1985 15
1986 8
1987 11
1988 6
1989 13
1990 16
1991 7
1992 14
1993 15
1994 11
1995 17
1996 24
1997 20
1998 21
1999 27
2000 20
2001 28
2002 30
2003 37
2004 39
2005 46
2006 51
2007 47
2008 54
2009 54
2010 71
2011 91
2012 86
2013 75
2014 76
2015 78
2016 61
2017 65
2018 57
2019 50
2020 47
2021 50
2022 49
2023 40
2024 16

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1,479 results

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Quoted phrase not found in phrase index: "Abnormality of the chin"
Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin. Intellectual disability is universally present, behaviorally anxiety is characteristic. ...
Cardinal facial characteristics include long, triangular face, macrocephaly, prominent forehead, everted lower lip, and prominent chin …
Freeman-Burian syndrome.
Poling MI, Dufresne CR, Chamberlain RL. Poling MI, et al. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. Orphanet J Rare Dis. 2019. PMID: 30630514 Free PMC article. Review.
CLINICAL DESCRIPTION: Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin def …
CLINICAL DESCRIPTION: Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in …
Genioplasty.
Stanton DC. Stanton DC. Facial Plast Surg. 2003 Feb;19(1):75-86. doi: 10.1055/s-2003-39130. Facial Plast Surg. 2003. PMID: 12739183
This article discusses patient evaluation and surgical techniques used in aesthetic and functional surgery of the chin. Because these topics have been discussed extensively in the literature, this will serve as a synopsis of current techniques....
This article discusses patient evaluation and surgical techniques used in aesthetic and functional surgery of the chin. Because these …
Otocephaly.
Hwang KS, Ding DC, Chang YK, Chen WH, Chu TY. Hwang KS, et al. J Chin Med Assoc. 2007 Jul;70(7):298-301. doi: 10.1016/S1726-4901(07)70009-6. J Chin Med Assoc. 2007. PMID: 17631468 Free article.
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ea …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, fr …
Accessory hemi diaphragm.
Radhakrishnan J, Bean J, Piazza DJ, Chin AC. Radhakrishnan J, et al. J Pediatr Surg. 2014 Aug;49(8):1326-31. doi: 10.1016/j.jpedsurg.2014.03.005. J Pediatr Surg. 2014. PMID: 25092100 Review.
In the remaining 10 patients the diagnosis was either made accidentally or information pertaining to their presentation is missing. Abnormalities of pulmonary and systemic blood vessels often accompany the abnormality. ...If vascular abnormalities coexist the …
In the remaining 10 patients the diagnosis was either made accidentally or information pertaining to their presentation is missing. Abnor …
The state of the art of fetal magnetic resonance imaging.
Guo Y, Luo BN. Guo Y, et al. Chin Med J (Engl). 2006 Aug 5;119(15):1294-9. Chin Med J (Engl). 2006. PMID: 16919189 Review.
Since the development of ultrafast MRI sequences provides faster scan time and avoids motion artifacts, it is widely applied in detecting normal or abnormal fetal development, including the central nervous system, thoracic region, abdomen and others. ...
Since the development of ultrafast MRI sequences provides faster scan time and avoids motion artifacts, it is widely applied in detecting no …
Brachymorphism-onychodysplasia-dysphalangism syndrome.
Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L. Verloes A, et al. J Med Genet. 1993 Feb;30(2):158-61. doi: 10.1136/jmg.30.2.158. J Med Genet. 1993. PMID: 8445623 Free PMC article.
Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. ...
Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area …
A general review of the otolaryngologic manifestations of Down Syndrome.
Chin CJ, Khami MM, Husein M. Chin CJ, et al. Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):899-904. doi: 10.1016/j.ijporl.2014.03.012. Epub 2014 Mar 20. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24704318 Review.
OBJECTIVE: Down Syndrome (DS) is the most common chromosome abnormality in liveborn children. Otolaryngologists frequently encounter these patients in their practice; in one survey, 50% of DS patients had been seen by Otolaryngology at least once. ...
OBJECTIVE: Down Syndrome (DS) is the most common chromosome abnormality in liveborn children. Otolaryngologists frequently encounter …
1,479 results