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

Year Number of Results
1968 2
1971 1
1985 3
1986 1
1988 3
1989 2
1990 2
1991 2
1992 2
1993 7
1994 4
1995 1
1996 6
1997 7
1998 6
1999 5
2000 3
2001 5
2002 7
2003 4
2004 1
2005 8
2006 4
2007 7
2008 7
2009 4
2010 7
2011 9
2012 16
2013 9
2014 10
2015 10
2016 13
2017 13
2018 12
2019 17
2020 8
2021 12
2022 17
2023 17
2024 2

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244 results

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Page 1
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recu …
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common fe …
Positional Plagiocephaly and Craniosynostosis.
Santiago GS, Santiago CN, Chwa ES, Purnell CA. Santiago GS, et al. Pediatr Ann. 2023 Jan;52(1):e10-e17. doi: 10.3928/19382359-20221114-03. Epub 2023 Jan 1. Pediatr Ann. 2023. PMID: 36625797 Review.
In doing so, we hope to provide pediatric care clinicians with the tools necessary to effectively evaluate and manage patients with head shape abnormalities. [Pediatr Ann. 2023;52(1):e10-e17.]....
In doing so, we hope to provide pediatric care clinicians with the tools necessary to effectively evaluate and manage patients with head sha …
Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM. Varagur K, et al. Neurosurg Clin N Am. 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. Neurosurg Clin N Am. 2022. PMID: 34801143 Free PMC article. Review.
In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context of: L1 syndrome, syndromic craniosynostoses, achondroplasia, NF 1/2, Down's syndrome, tuberous sclerosis, Walker-Warburg syndr …
In this review, we outline the genetic mutations, pathogenesis, and accompanying symptoms underlying syndromic hydrocephalus in the context …
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L. Mocquard C, et al. Neurochirurgie. 2019 Nov;65(5):246-251. doi: 10.1016/j.neuchi.2019.09.014. Epub 2019 Sep 27. Neurochirurgie. 2019. PMID: 31568780 Free article. Review.
INTRODUCTION: The aim of this review was to report on recent advances in trigonocephaly since the last report on craniosynostosis published in 2006. ...Neurodevelopmental disorders are frequent in syndromic trigonocephaly and not particularly rare in non-syndromic c …
INTRODUCTION: The aim of this review was to report on recent advances in trigonocephaly since the last report on craniosynostosis pub …
Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S. Yapijakis C, et al. In Vivo. 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. In Vivo. 2023. PMID: 36593018 Free PMC article. Review.
Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while in other case …
Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 bi …
Syndromic Craniosynostosis.
Wang JC, Nagy L, Demke JC. Wang JC, et al. Facial Plast Surg Clin North Am. 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. Facial Plast Surg Clin North Am. 2016. PMID: 27712819 Review.
Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. ...
Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and …
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM, Turner CL, Firth HV, Berg J, Pilz DT. Yates TM, et al. Clin Genet. 2017 Jul;92(1):3-9. doi: 10.1111/cge.12864. Epub 2016 Nov 30. Clin Genet. 2017. PMID: 27625340 Review.
It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also …
It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bi …
Craniofacial anomalies.
Nagy L, Demke JC. Nagy L, et al. Facial Plast Surg Clin North Am. 2014 Nov;22(4):523-48. doi: 10.1016/j.fsc.2014.08.002. Epub 2014 Nov 8. Facial Plast Surg Clin North Am. 2014. PMID: 25444726 Review.
Craniosynostosis, in which 1 or more cranial sutures prematurely fuse, is associated with diverse environmental and genetic factors. ...
Craniosynostosis, in which 1 or more cranial sutures prematurely fuse, is associated with diverse environmental and genetic factors. …
Pfeiffer syndrome.
Vogels A, Fryns JP. Vogels A, et al. Orphanet J Rare Dis. 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. Orphanet J Rare Dis. 2006. PMID: 16740155 Free PMC article. Review.
Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associate …
Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome …
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr. Buchanan EP, et al. Plast Reconstr Surg. 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. Plast Reconstr Surg. 2014. PMID: 25028828 Review.
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Recognize the clinical presentations of commonly seen craniofacial syndromes. 2. ...
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Recognize the clinical presentations of commo …
244 results