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Filters applied: . Clear all The following term was not found in PubMed: syndrome-acanthosis
Page 1
An association of acanthosis nigricans and Crouzon syndrome.
Koizumi H, Tomoyori T, Sato KC, Ohkawara A. Koizumi H, et al. J Dermatol. 1992 Feb;19(2):122-6. doi: 10.1111/j.1346-8138.1992.tb03193.x. J Dermatol. 1992. PMID: 1377724 Review.
It is an autosomal dominant inherited disorder. Crouzon syndrome is one of the syndromes which may be associated with acanthosis nigricans. ...We have reviewed the reported cases of acanthosis nigricans associated with Crouzon syndrome …
It is an autosomal dominant inherited disorder. Crouzon syndrome is one of the syndromes which may be associated with a …
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z, Francomano CA, Wilkin DJ. Vajo Z, et al. Endocr Rev. 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387. Endocr Rev. 2000. PMID: 10696568 Review.
Mutations in the FGFR3 gene also result in hypochondroplasia, the lethal thanatophoric dysplasias, the recently described SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) dysplasia, and two craniosynostosis disorders: Muenke coronal craniosy …
Mutations in the FGFR3 gene also result in hypochondroplasia, the lethal thanatophoric dysplasias, the recently described SADDAN (severe ach …
Cutaneous features of Crouzon syndrome with acanthosis nigricans.
Mir A, Wu T, Orlow SJ. Mir A, et al. JAMA Dermatol. 2013 Jun;149(6):737-41. doi: 10.1001/jamadermatol.2013.3019. JAMA Dermatol. 2013. PMID: 23571469 Review.
IMPORTANCE: Crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and atypical and extensive acanthosis nigricans. ...CONCLUSIONS AND RELEVA …
IMPORTANCE: Crouzon syndrome with acanthosis nigricans is a distinct disorder caused by a mutation in the FGFR3 gene, f …
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings.
Agochukwu NB, Solomon BD, Muenke M. Agochukwu NB, et al. Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019. Epub 2014 Sep 28. Int J Pediatr Otorhinolaryngol. 2014. PMID: 25441602 Review.
OBJECTIVE: This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR related craniosynostosis syndromes (Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, Beare-Stevenson …
OBJECTIVE: This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR re …
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Sargar KM, Singh AK, Kao SC. Sargar KM, et al. Radiographics. 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. Radiographics. 2017. PMID: 29019756 Review.
Skeletal disorders caused by type 1 mutations include Pfeiffer syndrome (PS) and osteoglophonic dysplasia, and disorders caused by type 2 mutations include Crouzon syndrome (CS), Apert syndrome (AS), and PS. Disorders caused by type 3 mutations include …
Skeletal disorders caused by type 1 mutations include Pfeiffer syndrome (PS) and osteoglophonic dysplasia, and disorders caused by ty …
Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms.
Agochukwu NB, Solomon BD, Muenke M. Agochukwu NB, et al. Am J Audiol. 2014 Jun;23(2):135-41. doi: 10.1044/2014_AJA-13-0036. Am J Audiol. 2014. PMID: 24686979 Free PMC article. Review.
PURPOSE: There are a number of craniosynostosis syndromes with hearing loss-including Muenke, Apert, Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and Jackson-Weiss syndromes-that result from mutations in the fibroblast …
PURPOSE: There are a number of craniosynostosis syndromes with hearing loss-including Muenke, Apert, Pfeiffer, Crouzon, Beare- …
Familial acanthosis nigricans with p.K650T FGFR3 mutation.
Fukuchi K, Tatsuno K, Matsushita K, Kubo A, Ito T, Tokura Y. Fukuchi K, et al. J Dermatol. 2018 Feb;45(2):207-210. doi: 10.1111/1346-8138.14107. Epub 2017 Oct 25. J Dermatol. 2018. PMID: 29068064 Review.
Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndro …
Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and …
Molecular diagnosis of bilateral coronal synostosis.
Mulliken JB, Steinberger D, Kunze S, Müller U. Mulliken JB, et al. Plast Reconstr Surg. 1999 Nov;104(6):1603-15. doi: 10.1097/00006534-199911000-00001. Plast Reconstr Surg. 1999. PMID: 10541159 Review.
Twenty-five patients were diagnosed as having either Crouzon or Pfeiffer syndrome. Five patients with Crouzon syndrome of variable severity had mutations in exon 7 of FGFR2. ...A wide phenotypic range was observed in patients with identical mutations, …
Twenty-five patients were diagnosed as having either Crouzon or Pfeiffer syndrome. Five patients with Crouzon syndro …
Molecular and cellular bases of syndromic craniosynostoses.
Bonaventure J, El Ghouzzi V. Bonaventure J, et al. Expert Rev Mol Med. 2003 Jan 29;5(4):1-17. doi: 10.1017/S1462399403005751. Expert Rev Mol Med. 2003. PMID: 14987407 Review.
Premature fusion of cranial sutures underlies the clinical condition of 'craniosynostosis', a common human disorder that occurs in both nonsyndromic and syndromic forms. The subgroup of syndromic craniosynostoses usually associates limb abnormalities and facial dysm …
Premature fusion of cranial sutures underlies the clinical condition of 'craniosynostosis', a common human disorder that occurs in both nons …
Crouzon disease with acanthosis nigricans and melanocytic nevi.
Gines E, Rodriguez-Pichardo A, Jorquera E, Moreno JC, Camacho F. Gines E, et al. Pediatr Dermatol. 1996 Jan-Feb;13(1):18-21. doi: 10.1111/j.1525-1470.1996.tb01180.x. Pediatr Dermatol. 1996. PMID: 8919518 Review.
Crouzon disease has been reported in association with severe acanthosis nigricans in 12 patients. ...Melanocytic nevi have been already reported in the medical literature in association with several congenital syndromes, although, to our knowledge, not with …
Crouzon disease has been reported in association with severe acanthosis nigricans in 12 patients. ...Melanocytic nevi have bee …
12 results