Search Results - "craniosynostosis"

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  1. 41
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    A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report by Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby, Eva-Lena Stattin

    Published 2020
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  2. 42
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    Advanced parental age: Is it contributing to an increased incidence of non-syndromic craniosynostosis? A review of case-control studies by Kenzy Abdelhamid, Rea Konci, Hassan ElHawary, Andrew Gorgy, Lee Smith

    Published 2021
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  3. 43
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    Correction of maxillofacial deformities in a patient with unilateral coronal craniosynostosis (plagiocephaly): a case report and a review of literatures. by Mansour Khorasani, Mohsen Hasani Barzi, Bahman Derakhshan

    Published 2013
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  4. 44
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    Oculo-auriculo-vertebral spectrum with craniosynostosis and osteo-cartilagineous multiple defects: a diffuse chondro-membranous-osteo-dysplasia by Agostino Berio, Giacomo Garlaschi, Giuseppe Mangiante, Attilia Piazzi

    Published 2015
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  5. 45
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    Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay by Xuemei Zhao, Bingbing Wu, Huiyao Chen, Ping Zhang, Yanyan Qian, Xiaomin Peng, Xinran Dong, Yaqiong Wang, Gang Li, Chenbin Dong, Huijun Wang

    Published 2022
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  6. 46
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    A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn-Sproul-Jackson syndrome by Ga Hye Kim, Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang

    Published 2023
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  7. 47
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    The use of a single-piece bone flap for cranial reshaping in anterior craniosynostosis patients: clinical experience and a description of a novel technique by Hatan Mortada, Ikhlas Altuawijri, Taghreed Alhumsi

    Published 2022
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  8. 48
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    Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia by Chih-Ping Chen, Shuan-Pei Lin, Yu-Peng Liu, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wayseen Wang

    Published 2017
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  9. 49
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    Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles by Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello

    Published 2022
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  10. 50
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    Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II by Chih-Ping Chen, Jian-Pei Huang, Kun-Shuo Huang, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chien-Ling Chiu, Wayseen Wang

    Published 2024
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  11. 51
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    Apert Syndrome: A Case Report by Shahin Mafinejad, Hojat Ehteshammanesh, Ghasem Bayani, Hosein Mahmoodzade

    Published 2022
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  12. 52
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    Fronto-orbital advancement: Revisited by Derick Mendonca, Somashekar Gejje, Nitin Kaladagi

    Published 2015
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  13. 53
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    Deletion of the Pyrophosphate Generating Enzyme ENPP1 Rescues Craniofacial Abnormalities in the TNAP−/− Mouse Model of Hypophosphatasia and Reveals FGF23 as a Marker of Phenotype S... by Hwa Kyung Nam, Emmanouil Emmanouil, Nan E. Hatch

    Published 2022
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  14. 54
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    A previously unreported variant of the synostotic sagittal suture: Case report and review of salient literature by Madison Budinich, Brittni Burgess, Christian Fisahn, Rod J. Oskouian, R. Shane Tubbs, Elias Rizk

    Published 2016
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  15. 55
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    Diagnosis of infant synostotic and nonsynostotic cranial deformities: a review for pediatricians by Enrico Ghizoni, Rafael Denadai, Cesar Augusto Raposo-Amaral, Andrei Fernandes Joaquim, Helder Tedeschi, Cassio Eduardo Raposo-Amaral

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  16. 56
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    Apert syndrome by Premalatha, Kannan V, Madhu

    Published 2010
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  17. 57
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    Diagnosis of Pfeiffer Syndrome with Umbilical Hernia by Bhesham Kumar Shahani, Aneel Kumar Vaswani, Waseem Mehmood Nizamani

    Published 2024
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  18. 58
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    Increased FGF8 signaling promotes chondrogenic rather than osteogenic development in the embryonic skull by Linnea Schmidt, Aftab Taiyab, Vida Senkus Melvin, Kenneth L. Jones, Trevor Williams

    Published 2018
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  19. 59
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    Prenatal diagnosis of Meier-Gorlin syndrome 7: a case presentation by Xia Li, Lan-Zhen Zhang, Lin Yu, Zhao-Lua Long, An-Yun Lin, Chen-Yu Gou

    Published 2021
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  20. 60
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    Deformidades craneoestenoticasfaciales su estudio en nuestro medio (1992- 2009) Craniofacialsynostosis malformations a study in our department (1992- 2009) by Fermín Garmendía, Zoila del S López Díaz

    Published 2010
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