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

Year Number of Results
1963 3
1964 5
1965 3
1966 2
1967 2
1968 6
1969 4
1970 5
1971 9
1972 5
1973 2
1974 6
1975 23
1976 10
1977 13
1978 10
1979 12
1980 17
1981 15
1982 15
1983 16
1984 12
1985 14
1986 19
1987 26
1988 41
1989 52
1990 57
1991 66
1992 66
1993 98
1994 82
1995 97
1996 75
1997 79
1998 68
1999 74
2000 112
2001 110
2002 80
2003 81
2004 101
2005 94
2006 86
2007 89
2008 97
2009 85
2010 98
2011 111
2012 119
2013 116
2014 140
2015 121
2016 134
2017 138
2018 124
2019 113
2020 99
2021 119
2022 132
2023 108
2024 29

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3,484 results

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Page 1
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
Diversity and dysmorphology.
Kruszka P, Tekendo-Ngongang C, Muenke M. Kruszka P, et al. Curr Opin Pediatr. 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. Curr Opin Pediatr. 2019. PMID: 31693576 Review.
Recognizing patterns of dysmorphic features is a critical step in the diagnosis and management of human congenital anomalies and genetic syndromes. This review presents recent developments in genetic syndromes and their related dysmorphology in diverse populations. ...
Recognizing patterns of dysmorphic features is a critical step in the diagnosis and management of human congenital anomalies and gene …
Hyperinsulinism in the Neonate.
Lord K, De León DD. Lord K, et al. Clin Perinatol. 2018 Mar;45(1):61-74. doi: 10.1016/j.clp.2017.10.007. Epub 2017 Dec 6. Clin Perinatol. 2018. PMID: 29406007 Review.
Prompt recognition and treatment, independent of whether infants have transient or permanent HI, are essential to decrease risk of neurologic damage. The most common form of congenital HI is due to inactivating mutations of the beta-cell ATP-sensitive potassium (K(ATP)) ch …
Prompt recognition and treatment, independent of whether infants have transient or permanent HI, are essential to decrease risk of neurologi …
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. ...
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, …
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ. Toydemir RM, et al. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. Orphanet J Rare Dis. 2009. PMID: 19309503 Free PMC article. Review.
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. ...
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of …
MR Imaging of the Fetal Face: Comprehensive Review.
Nagarajan M, Sharbidre KG, Bhabad SH, Byrd SE. Nagarajan M, et al. Radiographics. 2018 May-Jun;38(3):962-980. doi: 10.1148/rg.2018170142. Epub 2018 Apr 13. Radiographics. 2018. PMID: 29652578 Review.
The human face is a complex anatomic structure with an equally complex embryologic development. ...The MR imaging features of various structural anomalies are described and classified into six groups, namely, orofacial clefts, orbital anomalies, nasal anomalies, facial mas …
The human face is a complex anatomic structure with an equally complex embryologic development. ...The MR imaging features of various …
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.
In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae. ...
In the commonest form of the disorder, the dysmorphic syndrome is very moderate and non-specific. The main clinical features are short statu …
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 …
"Laurin-Sandrow Syndrome - a review of the literature and classification system".
Buzea C, Boulanger N. Buzea C, et al. Clin Dysmorphol. 2022 Jul 1;31(3):109-112. doi: 10.1097/MCD.0000000000000420. Epub 2022 Mar 7. Clin Dysmorphol. 2022. PMID: 35256564 Review.
INTRODUCTION: Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associate …
INTRODUCTION: Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized c …
3,484 results