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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 syndrome, Crouzon syndrome with acanthosis n …
OBJECTIVE: This review addresses hearing loss as it occurs and has been reported in Muenke syndrome as well as six additional FGFR related c …
Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
Cohen MM Jr. Cohen MM Jr. Pediatr Radiol. 1997 May;27(5):442-6. doi: 10.1007/s002470050165. Pediatr Radiol. 1997. PMID: 9133360 Review.
Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-Weiss …
Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasias and craniosynostosis syndromes, including …
Surgical Management of Complex Syndromic Craniosynostosis: Experience With a Rare Genetic Variant.
Celie KB, Yuan M, Hoffman C, O'Connor A, Bogue J, Imahiyerobo T. Celie KB, et al. J Craniofac Surg. 2020 Jan/Feb;31(1):294-299. doi: 10.1097/SCS.0000000000005949. J Craniofac Surg. 2020. PMID: 31764549 Review.
In this report, we describe the surgical management of a patient with Jackson-Weiss syndrome presenting with delayed, but rapidly progressive bilateral lambdoid CS, severe proptosis, midface hypoplasia, elevated ICP, hydrocephalus, tonsillar ectopia, and seve …
In this report, we describe the surgical management of a patient with Jackson-Weiss syndrome presenting with delayed, b …
[The molecular genetic background of hereditary craniosynostoses and chondrodysplasias].
Hertz JM, Juncker I, Christensen L, Østergaard JR, Jensen PK. Hertz JM, et al. Ugeskr Laeger. 2001 Sep 3;163(36):4862-7. Ugeskr Laeger. 2001. PMID: 11571861 Review. Danish.
The craniosynostosis syndromes: Apert syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Muenke syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome can be caused by mutation in either FGFR1, FGFR2, or FGFR3. ...
The craniosynostosis syndromes: Apert syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Mue …
Fibroblast growth factor receptor mutations and craniosynostosis: three receptors, five syndromes.
Wilkie AO. Wilkie AO. Indian J Pediatr. 1996 May-Jun;63(3):351-6. doi: 10.1007/BF02751527. Indian J Pediatr. 1996. PMID: 10830010 Review.
In a rapid flurry of publications, mutations of fibroblast growth factor receptors (FGFRs) have been identified in three of the best known craniosynostosis syndromes, namely Apert, Crouzon and Pfeiffer syndromes, as well as in Jackson-Weiss syndrome and thana …
In a rapid flurry of publications, mutations of fibroblast growth factor receptors (FGFRs) have been identified in three of the best known c …
Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.
Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA. Roscioli T, et al. Am J Med Genet. 2000 Jul 3;93(1):22-8. doi: 10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u. Am J Med Genet. 2000. PMID: 10861678 Review.
We report on a patient with the skeletal findings of Jackson-Weiss syndrome, who manifests only mild craniofacial anomalies. ...
We report on a patient with the skeletal findings of Jackson-Weiss syndrome, who manifests only mild craniofacial anoma …
A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis.
Sergi C, Stein H, Heep JG, Otto HF. Sergi C, et al. Pathol Res Pract. 1997;193(8):579-85; discussion 587-8. doi: 10.1016/S0344-0338(97)80018-0. Pathol Res Pract. 1997. PMID: 9406252 Review.
The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic craniofacial growth patterns (Crouzon syndrome, Jackson-Weiss syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer sy …
The nosological aspects of this fetus and the differential diagnosis of well-described craniosynostosis syndromes with characteristic cranio …