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1968
2025

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

Year Number of Results
1968 1
1972 1
1977 1
1993 1
1995 1
1997 1
1998 1
1999 1
2000 1
2004 3
2007 2
2009 2
2010 3
2011 9
2012 3
2013 5
2014 5
2015 7
2016 7
2017 8
2018 4
2019 4
2020 5
2021 4
2022 7
2023 5
2024 4
2025 0

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83 results

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Page 1
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA. Garzon MC, et al. J Pediatr. 2016 Nov;178:24-33.e2. doi: 10.1016/j.jpeds.2016.07.054. Epub 2016 Sep 19. J Pediatr. 2016. PMID: 27659028 Free PMC article. Review. No abstract available.
PHACE(S) syndrome.
Heyer GL. Heyer GL. Handb Clin Neurol. 2015;132:169-83. doi: 10.1016/B978-0-444-62702-5.00012-3. Handb Clin Neurol. 2015. PMID: 26564079 Review.
The acronym refers to the commonest features of PHACE: posterior fossa malformations, large facial hemangiomas, cerebral arterial anomalies, cardiovascular anomalies, and eye anomalies. When ventral developmental defects such as sternal clefting or supraumbilical raphe occ …
The acronym refers to the commonest features of PHACE: posterior fossa malformations, large facial hemangiomas, cerebral arterial anomalies, …
Infantile and congenital hemangiomas.
Olsen GM, Nackers A, Drolet BA. Olsen GM, et al. Semin Pediatr Surg. 2020 Oct;29(5):150969. doi: 10.1016/j.sempedsurg.2020.150969. Epub 2020 Sep 16. Semin Pediatr Surg. 2020. PMID: 33069287 Review.
Rarely, IHs can be associated with structural anomalies. Congenital hemangiomas (CHs) are a distinct clinical entity, caused by a point mutation in GNAQ or GNA11. ...
Rarely, IHs can be associated with structural anomalies. Congenital hemangiomas (CHs) are a distinct clinical entity, caused by a poi …
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M. Tartaglia M, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396583 Free PMC article. Review.
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. ...
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hype …
Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.
Rodríguez Bandera AI, Sebaratnam DF, Wargon O, Wong LF. Rodríguez Bandera AI, et al. J Am Acad Dermatol. 2021 Dec;85(6):1379-1392. doi: 10.1016/j.jaad.2021.08.019. Epub 2021 Aug 19. J Am Acad Dermatol. 2021. PMID: 34419524 Review.
Large facial IHs warrant investigation for posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects or aortic coarctation and eye anomalies (PHACE) syndrome. Lumbar IHs warrant investigation for lower body IH and other cutaneous defects, urogen …
Large facial IHs warrant investigation for posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects or aortic c …
RASopathies.
Jafry M, Sidbury R. Jafry M, et al. Clin Dermatol. 2020 Jul-Aug;38(4):455-461. doi: 10.1016/j.clindermatol.2020.03.010. Epub 2020 Apr 1. Clin Dermatol. 2020. PMID: 32972603 Review.
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Hassed S, et al. Am J Med Genet A. 2017 Mar;173(3):790-800. doi: 10.1002/ajmg.a.37889. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160419 Review.
In addition to ACC and TTLD, the most commonly associated anomalies included a wide variety of central nervous system (CNS) anomalies and congenital heart defects each seen in 23%. CNS anomalies included structural anomalies, microcephaly, vascular defects
In addition to ACC and TTLD, the most commonly associated anomalies included a wide variety of central nervous system (CNS) anomalies and …
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G. Scorrano G, et al. Genes (Basel). 2023 Nov 22;14(12):2111. doi: 10.3390/genes14122111. Genes (Basel). 2023. PMID: 38136934 Free PMC article. Review.
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. ...
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac …
PHACE syndrome--clinical features, aetiology and management.
Winter PR, Itinteang T, Leadbitter P, Tan ST. Winter PR, et al. Acta Paediatr. 2016 Feb;105(2):145-53. doi: 10.1111/apa.13242. Epub 2015 Nov 27. Acta Paediatr. 2016. PMID: 26469095 Review.
PHACE syndrome comprises a spectrum of anomalies including posterior fossa malformations, haemangioma, arterial anomalies, cardiac defects and eye anomalies. PHACE should be considered in any patient with a large facial segmental infantile haemangioma (IH), and multidiscip …
PHACE syndrome comprises a spectrum of anomalies including posterior fossa malformations, haemangioma, arterial anomalies, cardiac defect
83 results