Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings.
Acrocephalosyndactyly
Apert
Cloverleaf
Craniofacial-skeletal-dermatologic dysplasia
Craniosynostosis
FGF
Le fort
Noack
Pfeiffer
Journal
Radiology case reports
ISSN: 1930-0433
Titre abrégé: Radiol Case Rep
Pays: Netherlands
ID NLM: 101467888
Informations de publication
Date de publication:
Sep 2021
Sep 2021
Historique:
received:
31
01
2021
revised:
31
05
2021
accepted:
02
06
2021
entrez:
14
7
2021
pubmed:
15
7
2021
medline:
15
7
2021
Statut:
epublish
Résumé
Pfeiffer syndrome, affecting roughly 1 in 100,000 individuals is characterized by acrocephalosyndactyly - the
Identifiants
pubmed: 34257781
doi: 10.1016/j.radcr.2021.06.003
pii: S1930-0433(21)00380-0
pmc: PMC8260745
doi:
Types de publication
Case Reports
Langues
eng
Pagination
2463-2468Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021 The Authors. Published by Elsevier Inc. on behalf of University of Washington.
Références
Am J Hum Genet. 1996 Mar;58(3):491-8
pubmed: 8644708
Nat Genet. 1995 Feb;9(2):173-6
pubmed: 7719345
Anesthesiology. 2000 Jul;93(1):6-14
pubmed: 10861140
Mol Genet Genomic Med. 2019 Sep;7(9):e843
pubmed: 31318164
J Med Life. 2009 Jan-Mar;2(1):5-17
pubmed: 20108486
Am J Med Genet. 1993 Feb 1;45(3):300-7
pubmed: 8434615
Orphanet J Rare Dis. 2006 Jun 01;1:19
pubmed: 16740155
Clin Dysmorphol. 2006 Jul;15(3):187-8
pubmed: 16760743
Z Kinderheilkd. 1964 Sep 16;90:301-20
pubmed: 14316612
J Korean Med Sci. 2006 Apr;21(2):374-8
pubmed: 16614535
Prenat Diagn. 2004 Nov;24(11):918-22
pubmed: 15565658
Ultrasound Obstet Gynecol. 2000 Sep;16(4):391-4
pubmed: 11169319
Am J Hum Genet. 2000 Mar;66(3):768-77
pubmed: 10712195