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Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A, Gos M, Obersztyn E. Kutkowska-Kaźmierczak A, et al. J Appl Genet. 2018 May;59(2):133-147. doi: 10.1007/s13353-017-0423-4. Epub 2018 Feb 1. J Appl Genet. 2018. PMID: 29392564 Review.
In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such as Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes not only affect multiple sutures, but are also associated with th …
In approximately 85% of cases, the disease is isolated and nonsyndromic and mainly involves only one suture. Syndromic craniosynostoses such …
Pfeiffer syndrome: a treatment evaluation.
Fearon JA, Rhodes J. Fearon JA, et al. Plast Reconstr Surg. 2009 May;123(5):1560-1569. doi: 10.1097/PRS.0b013e3181a2057e. Plast Reconstr Surg. 2009. PMID: 19407629
BACKGROUND: Pfeiffer syndrome is rarely encountered, even at major craniofacial centers. ...METHODS: The authors conducted a 17-year, single-center, retrospective outcome assessment of all children treated for Pfeiffer syndrome, with data summarized us …
BACKGROUND: Pfeiffer syndrome is rarely encountered, even at major craniofacial centers. ...METHODS: The authors conducted a 1 …
Prevention and management of hearing loss in syndromic craniosynostosis: A case series.
Biamino E, Canale A, Lacilla M, Marinosci A, Dagna F, Genitori L, Peretta P, Silengo M, Albera R, Ferrero GB. Biamino E, et al. Int J Pediatr Otorhinolaryngol. 2016 Jun;85:95-8. doi: 10.1016/j.ijporl.2016.03.038. Epub 2016 Apr 11. Int J Pediatr Otorhinolaryngol. 2016. PMID: 27240504
OBJECTIVE: To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis. METHODS: Eleven children with Apert syndrome (n=4), Saethre-Chotzen syndrome (n=3), Muenke syndrome (n=2), Crouzon syndrome (n=1) and Pfeif …
OBJECTIVE: To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis. METHODS: Eleven children with …
Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods.
Harada A, Miyashita S, Nagai R, Makino S, Murotsuki J. Harada A, et al. Congenit Anom (Kyoto). 2019 Jul;59(4):132-141. doi: 10.1111/cga.12308. Epub 2018 Sep 5. Congenit Anom (Kyoto). 2019. PMID: 30132994
Half of the cases of syndromic craniosynostosis detected during the perinatal period were Pfeiffer syndrome; there were also six cases of Apert syndrome, three cases of Crouzon syndrome and other rare form of syndromic craniosynostosis (Beare-Stevenson …
Half of the cases of syndromic craniosynostosis detected during the perinatal period were Pfeiffer syndrome; there were also s …
Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC, Perkins JA, Dahl JP. Noble AR, et al. Laryngoscope. 2022 Jan;132(1):215-221. doi: 10.1002/lary.29692. Epub 2021 Jun 16. Laryngoscope. 2022. PMID: 34133757
Average age at diagnosis was 12 months (range 2-weeks to 7.9-years; standard deviation 19.8 months). Syndromes included Pfeiffer (37%), Apert (37%), and Crouzon (26%). Severe obstructive sleep apnea was present in 76% of patients. ...Additional interventions included adeno …
Average age at diagnosis was 12 months (range 2-weeks to 7.9-years; standard deviation 19.8 months). Syndromes included Pfeiffer (37% …
Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.
Rubio EI, Blask A, Bulas DI. Rubio EI, et al. Pediatr Radiol. 2016 May;46(5):709-18. doi: 10.1007/s00247-016-3550-x. Epub 2016 Feb 25. Pediatr Radiol. 2016. PMID: 26914936
Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. RESULTS: The diagnosis was Apert syndrome in three, Pfeiffer syndrome in two and Carpenter syndrome in one. ...The referral history s …
Abnormalities of the calvarium, hands, feet, face, airway and central nervous system were compared between modalities. RESULTS: The diagnosi …
The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.
Salem J, Blumenow W, Markey A, Hogg ES, McCann E, Yassaie E, Hennedige A, De S, Sharma SD. Salem J, et al. J Craniofac Surg. 2023 Oct 1;34(7):1985-1988. doi: 10.1097/SCS.0000000000009541. Epub 2023 Jul 21. J Craniofac Surg. 2023. PMID: 37477198
BACKGROUND: Pfeiffer syndrome is characterized by craniosynostosis, mid-face hypoplasia, broad thumbs, and often multilevel airway obstruction. ...OBJECTIVE: The objective of this study was to assess the impact an airway adjunct can have on feeding difficulties in c …
BACKGROUND: Pfeiffer syndrome is characterized by craniosynostosis, mid-face hypoplasia, broad thumbs, and often multilevel ai …
Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis.
Hassona Y, Al-Hadidi A, Ghlassi TA, Dali HE, Scully C. Hassona Y, et al. Spec Care Dentist. 2017 Sep;37(5):258-262. doi: 10.1111/scd.12236. Epub 2017 Aug 28. Spec Care Dentist. 2017. PMID: 28845899
Pfeiffer syndrome is a rare fibroblast growth factor receptor-related craniosynostosis with variable clinical presentations. ...
Pfeiffer syndrome is a rare fibroblast growth factor receptor-related craniosynostosis with variable clinical presentations. . …
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Wei X, Huang G, Gui B, Xie B, Chen S, Fan X, Chen Y. Wei X, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1901. doi: 10.1002/mgg3.1901. Epub 2022 Mar 2. Mol Genet Genomic Med. 2022. PMID: 35235708 Free PMC article.
Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome. Considerable phenotypic overlap exists among these syndromes and mutations in FGFR2 may cause different syndromes. ...Nonetheless, all the eight patients manifested …
Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome. Considerable phenotypic …
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF. Roscioli T, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):259-70. doi: 10.1002/ajmg.c.31378. Epub 2013 Oct 11. Am J Med Genet C Semin Med Genet. 2013. PMID: 24127277
We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, more severe clinical phenotypes associated with FGFR2 exon 10 versus exon 8 mutations, and more frequent surgical procedures in …
We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer s …
15 results