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Year Number of Results
2014 2
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2016 3
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Page 1
Transmastoid Facial Nerve Decompression for Craniometaphyseal Dysplasia.
Lee AS, Teh BM, Alexiades G. Lee AS, et al. Otol Neurotol. 2023 Dec 1;44(10):1082-1085. doi: 10.1097/MAO.0000000000004010. Epub 2023 Aug 26. Otol Neurotol. 2023. PMID: 37939359
OBJECTIVE: We document the first successful transmastoid surgical treatment of facial nerve palsy for a patient with craniometaphyseal dysplasia (CMD), a rare genetic disease. PATIENT: A 9-month-old girl with bilateral facial nerve palsies and conductive hearing los …
OBJECTIVE: We document the first successful transmastoid surgical treatment of facial nerve palsy for a patient with craniometaphyseal
Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.
Chen IP, Luxmi R, Kanaujiya J, Hao Z, Reichenberger EJ. Chen IP, et al. Stem Cell Reports. 2017 Nov 14;9(5):1369-1376. doi: 10.1016/j.stemcr.2017.09.016. Epub 2017 Oct 19. Stem Cell Reports. 2017. PMID: 29056330 Free PMC article.
We identified osteoclast defects in craniometaphyseal dysplasia (CMD) using an easy-to-use protocol for differentiating osteoclasts from human induced pluripotent stem cells (hiPSCs). ...
We identified osteoclast defects in craniometaphyseal dysplasia (CMD) using an easy-to-use protocol for differentiating osteoc …
Cochlear Implantation in Craniometaphyseal Dysplasia.
Huang AE, Adkins WJ, Patel NS. Huang AE, et al. Otol Neurotol. 2020 Mar;41(3):e317-e321. doi: 10.1097/MAO.0000000000002504. Otol Neurotol. 2020. PMID: 31834875
OBJECTIVE: Describe the first case of cochlear implantation (CI) for auditory rehabilitation of a patient with craniometaphyseal dysplasia (CMD) and progressive mixed hearing loss. PATIENTS: A 65-year-old woman with known autosomal dominant CMD presented with progre …
OBJECTIVE: Describe the first case of cochlear implantation (CI) for auditory rehabilitation of a patient with craniometaphyseal d
Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature.
Twigg V, Carr S, Peres C, Mirza S. Twigg V, et al. Int J Pediatr Otorhinolaryngol. 2015 Jun;79(6):935-937. doi: 10.1016/j.ijporl.2015.03.029. Epub 2015 Apr 7. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25890400 Review.
Craniometaphyseal dysplasia is a rare genetic condition characterised by hyperostosis of the skull base and sclerosis of craniofacial bones. This can cause nasal obstruction. This paper presents the case of a 14-year old with craniometaphyseal dysplasia
Craniometaphyseal dysplasia is a rare genetic condition characterised by hyperostosis of the skull base and sclerosis of crani
Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.
Wu B, Jiang Y, Wang O, Li M, Xing XP, Xia WB. Wu B, et al. Clin Chim Acta. 2016 May 1;456:122-127. doi: 10.1016/j.cca.2016.01.021. Epub 2016 Jan 25. Clin Chim Acta. 2016. PMID: 26820766
BACKGROUND: Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long bones, and biochemical indexes were mostly normal. ...Considering that he was also pres …
BACKGROUND: Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the …
Simultaneous LeFort III and LeFort I Osteotomies in Craniometaphyseal Dysplasia.
Chan C, Garg R, Wlodarczyk JR, Yen S, Urata MM. Chan C, et al. Cleft Palate Craniofac J. 2021 Dec;58(12):1560-1568. doi: 10.1177/1055665621990942. Epub 2021 Feb 10. Cleft Palate Craniofac J. 2021. PMID: 33563004
Craniometaphyseal dysplasia (CMD) is a rare genetic disease affecting bone metabolism with sclerosis of craniofacial bones. ...
Craniometaphyseal dysplasia (CMD) is a rare genetic disease affecting bone metabolism with sclerosis of craniofacial bones. ..
Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.
Vijen S, Hawes C, Runions J, Russell RGG, Wordsworth BP, Carr AJ, Pink RC, Zhang Y. Vijen S, et al. Sci Rep. 2020 May 4;10(1):7408. doi: 10.1038/s41598-020-63911-x. Sci Rep. 2020. PMID: 32366894 Free PMC article.
ANKH mutations are associated with calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. This study investigated the effects of these ANKH mutants on cellular localisation and associated biochemistry. We generated four ANKH overexpression-plasmid …
ANKH mutations are associated with calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. This study invest …
Dental Anomalies Associated with Craniometaphyseal Dysplasia.
Chen IP, Tadinada A, Dutra EH, Utreja A, Uribe F, Reichenberger EJ. Chen IP, et al. J Dent Res. 2014 Jun;93(6):553-8. doi: 10.1177/0022034514529304. Epub 2014 Mar 24. J Dent Res. 2014. PMID: 24663682 Free PMC article.
Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular bones. ...
Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal w
Restriction of Dietary Phosphate Ameliorates Skeletal Abnormalities in a Mouse Model for Craniometaphyseal Dysplasia.
Fujii Y, Kozak E, Dutra E, Varadi A, Reichenberger EJ, Chen IP. Fujii Y, et al. J Bone Miner Res. 2020 Oct;35(10):2070-2081. doi: 10.1002/jbmr.4110. Epub 2020 Jul 12. J Bone Miner Res. 2020. PMID: 33463757 Free PMC article.
Craniometaphyseal dysplasia (CMD), a rare genetic bone disorder, is characterized by lifelong progressive thickening of craniofacial bones and metaphyseal flaring of long bones. ...
Craniometaphyseal dysplasia (CMD), a rare genetic bone disorder, is characterized by lifelong progressive thickening of cranio
Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.
Kanaujiya J, Bastow E, Luxmi R, Hao Z, Zattas D, Hochstrasser M, Reichenberger EJ, Chen IP. Kanaujiya J, et al. Sci Rep. 2018 Oct 24;8(1):15710. doi: 10.1038/s41598-018-34157-5. Sci Rep. 2018. PMID: 30356088 Free PMC article.
Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and widened metaphyses in long bones. ...
Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized …
16 results