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

Year Number of Results
1948 1
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1959 1
1962 1
1963 1
1964 2
1965 7
1966 2
1967 3
1968 2
1969 3
1970 6
1971 5
1972 2
1973 9
1974 8
1975 11
1976 14
1977 19
1978 17
1979 13
1980 18
1981 18
1982 19
1983 20
1984 28
1985 23
1986 16
1987 23
1988 30
1989 32
1990 35
1991 34
1992 42
1993 46
1994 59
1995 73
1996 71
1997 81
1998 69
1999 54
2000 73
2001 83
2002 82
2003 90
2004 91
2005 116
2006 111
2007 115
2008 119
2009 138
2010 164
2011 191
2012 165
2013 180
2014 201
2015 181
2016 157
2017 149
2018 157
2019 140
2020 134
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2022 109
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2024 59

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3,748 results

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Quoted phrase not found in phrase index: "Abnormality of the face"
Page 1
Median Cleft Lip.
Menderes A, Ateşşahin FB, Babahan T, Terzi M, Atalmiş SE, Çağli HB. Menderes A, et al. J Craniofac Surg. 2023 Nov-Dec 01;34(8):e780-e781. doi: 10.1097/SCS.0000000000009647. Epub 2023 Aug 21. J Craniofac Surg. 2023. PMID: 37603894
Waardenburg syndrome.
Read AP, Newton VE. Read AP, et al. J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. J Med Genet. 1997. PMID: 9279758 Free PMC article. Review.
Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. ...All these …
Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syn …
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. ...Management of affected patients includ …
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, …
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA. Tessier P, et al. Scand J Plast Reconstr Surg Hand Surg. 2009;43(4):177-96. doi: 10.1080/02844310802517259. Scand J Plast Reconstr Surg Hand Surg. 2009. PMID: 19401938
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities …
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardia …
Monosomy 18p.
Turleau C. Turleau C. Orphanet J Rare Dis. 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. Orphanet J Rare Dis. 2008. PMID: 18284672 Free PMC article. Review.
Neu Laxova syndrome.
Dwivedi T, Gosavi M. Dwivedi T, et al. Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. Indian J Pathol Microbiol. 2019. PMID: 30706883
NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. ...Early diagnosis of the disease may offer termination of the pregnancy as an option. The progn …
NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndro …
The human face: genes, embryological development and dysmorphology.
Bhat M. Bhat M. Int J Dev Biol. 2020;64(4-5-6):383-391. doi: 10.1387/ijdb.190312mb. Int J Dev Biol. 2020. PMID: 32658997 Free article. Review.
Recognizing facial patterns and genetic syndromes efficiently aids in planning appropriate tests, securing an accurate diagnosis, counselling and predicting outcomes and offering interventions and therapies where available....
Recognizing facial patterns and genetic syndromes efficiently aids in planning appropriate tests, securing an accurate diagnosis, counsellin …
Proboscis lateralis.
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R. Lelli GJ Jr, et al. Ophthalmic Plast Reconstr Surg. 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. Ophthalmic Plast Reconstr Surg. 2008. PMID: 19033859
An otherwise healthy 1-month-old female infant presented with a congenital nasal appendage in the left medial canthal region with associated left-sided nasal hypoplasia. ...A case report and review of proboscis lateralis is provided, as treatment of this rare congenital …
An otherwise healthy 1-month-old female infant presented with a congenital nasal appendage in the left medial canthal region with ass …
Congenital lesions of epithelial origin.
Hills SE, Maddalozzo J. Hills SE, et al. Otolaryngol Clin North Am. 2015 Feb;48(1):209-23. doi: 10.1016/j.otc.2014.09.014. Otolaryngol Clin North Am. 2015. PMID: 25439555 Review.
Defects of embryologic development give rise to a variety of congenital lesions arising from the epithelium and are among the most common congenital lesions of the head and neck in the pediatric population. This article presents several congenital lesions of …
Defects of embryologic development give rise to a variety of congenital lesions arising from the epithelium and are among the most co …
3,748 results