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2025

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Year Number of Results
1978 1
1981 1
1983 1
1987 1
1988 2
1989 3
1990 2
1991 6
1992 4
1993 5
1994 3
1995 5
1996 2
1997 2
1998 5
1999 6
2000 7
2001 3
2002 3
2003 14
2004 8
2005 9
2006 11
2007 10
2008 7
2009 7
2010 9
2011 16
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2015 13
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2018 17
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2021 9
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2024 21
2025 0

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355 results

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Page 1
Ptosis: causes, presentation, and management.
Finsterer J. Finsterer J. Aesthetic Plast Surg. 2003 May-Jun;27(3):193-204. doi: 10.1007/s00266-003-0127-5. Epub 2003 Aug 21. Aesthetic Plast Surg. 2003. PMID: 12925861 Review.
Ptosis can affect one or both eyes. Ptosis can be present at birth (congenital) or develop later in life (acquired). Ptosis may be due to a myogenic, neurogenic, aponeurotic, mechanical or traumatic cause. ...If congenital ptosis is not corrected, amblyopia, leading …
Ptosis can affect one or both eyes. Ptosis can be present at birth (congenital) or develop later in life (acquired). Ptosis may be du …
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 …
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose and pointed chin. The severity of the neurological effects as well as the presence of other features is variable am …
In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehea …
Will This Patient Be Difficult to Intubate?: The Rational Clinical Examination Systematic Review.
Detsky ME, Jivraj N, Adhikari NK, Friedrich JO, Pinto R, Simel DL, Wijeysundera DN, Scales DC. Detsky ME, et al. JAMA. 2019 Feb 5;321(5):493-503. doi: 10.1001/jama.2018.21413. JAMA. 2019. PMID: 30721300
The physical examination findings that best predicted a difficult intubation included a grade of class 3 on the upper lip bite test (lower incisors cannot extend to reach the upper lip; positive likelihood ratio, 14 [95% CI, 8.9-22]; specificity, 0.96 [95% CI, 0.93-0.97]), shorte …
The physical examination findings that best predicted a difficult intubation included a grade of class 3 on the upper lip bite test (lower i …
Pediatric cardiac transplantation.
Ryan TD, Chin C. Ryan TD, et al. Semin Pediatr Surg. 2017 Aug;26(4):206-212. doi: 10.1053/j.sempedsurg.2017.07.012. Epub 2017 Jul 26. Semin Pediatr Surg. 2017. PMID: 28964475 Review.
The concept of heart failure is complex in a pediatric population, particularly those with congenital heart disease. While heart failure may refer simply to systolic dysfunction leading to low cardiac output, it can also encompass: diastolic dysfunction in restrictive card …
The concept of heart failure is complex in a pediatric population, particularly those with congenital heart disease. While heart fail …
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.
Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually severe), growth abnormalities (growth retardation, microcephaly, obesity), and craniofacial dysmorphism with a large anterior fontanelle, prominent forehead, …
Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually severe), growth abnorm
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 …
Celiac neuropathy.
Chin RL, Sander HW, Brannagan TH, Green PH, Hays AP, Alaedini A, Latov N. Chin RL, et al. Neurology. 2003 May 27;60(10):1581-5. doi: 10.1212/01.wnl.0000063307.84039.c7. Neurology. 2003. PMID: 12771245 Review.
Results of electrophysiologic studies were normal or mildly abnormal in 18 (90%) of the patients. Sural nerve biopsies, obtained from three patients, revealed mild to severe axonopathy. ...
Results of electrophysiologic studies were normal or mildly abnormal in 18 (90%) of the patients. Sural nerve biopsies, obtained from …
Essential tremor: phenotypes.
Teive HA. Teive HA. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S140-2. doi: 10.1016/S1353-8020(11)70044-X. Parkinsonism Relat Disord. 2012. PMID: 22166415 Review.
Additional or isolated tremor of the head may occur but in the absence of abnormal posture. Duration is more than 5 years and the neurological examination is normal, with exception of the cogwheel phenomenon. ...Other motor features described in patients with ET are gait a …
Additional or isolated tremor of the head may occur but in the absence of abnormal posture. Duration is more than 5 years and the neu …
Correction of chin ptosis.
Torrealba R, Fariña R, Valladares S, Sáez F. Torrealba R, et al. Int J Oral Maxillofac Surg. 2017 Aug;46(8):1026-1029. doi: 10.1016/j.ijom.2017.03.037. Epub 2017 May 8. Int J Oral Maxillofac Surg. 2017. PMID: 28495393 Review.
Chin ptosis is described as a descent of the soft tissue from the symphyseal region to a position under the lower contour of the mandible. ...While augmentation of the submental crease is a versatile option for the correction of chin ptosis, this only corrects the s
Chin ptosis is described as a descent of the soft tissue from the symphyseal region to a position under the lower contour of the mand
355 results