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2006 3
2007 4
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2012 1
2013 5
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72 results

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Page 1
Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC, Nucă I, Pânzaru MC, Ivanov AV, Mihai CT, Antoci LM, Ciobanu CG, Rusu C, Popescu R. Gavril EC, et al. Genes (Basel). 2023 Feb 11;14(2):465. doi: 10.3390/genes14020465. Genes (Basel). 2023. PMID: 36833393 Free PMC article. Review.
MATERIALS AND METHODS: In this study we analyzed nine newly diagnosed cases with 2q37 deletion (3 male/6 female, aged between 2 and 30 years old), and followed up at the Iasi Regional Medical Genetics Centre. ...Two cases had obesity, one case had craniosynostosis, …
MATERIALS AND METHODS: In this study we analyzed nine newly diagnosed cases with 2q37 deletion (3 male/6 female, aged between 2 and 3 …
Prenatal Diagnosis of Craniosynostosis Using Ultrasound.
DeFreitas CA, Carr SR, Merck DL, Byrne MM, Linden OE, Stiles EA, Sullivan SR, Taylor HO. DeFreitas CA, et al. Plast Reconstr Surg. 2022 Nov 1;150(5):1084-1089. doi: 10.1097/PRS.0000000000009608. Epub 2022 Aug 24. Plast Reconstr Surg. 2022. PMID: 35998125
Our purpose was to determine whether prenatal ultrasound can be used to diagnose nonsyndromic craniosynostosis. METHODS: The authors reviewed 22 prenatal ultrasounds of infants known to have nonsyndromic craniosynostosis and 22 age-matched controls. ...RESULTS: Amon …
Our purpose was to determine whether prenatal ultrasound can be used to diagnose nonsyndromic craniosynostosis. METHODS: The authors …
Diagnosis and Management of Suture-Related Concerns of the Infant Skull.
Hersh DS, Bookland MJ, Hughes CD. Hersh DS, et al. Pediatr Clin North Am. 2021 Aug;68(4):727-742. doi: 10.1016/j.pcl.2021.04.002. Pediatr Clin North Am. 2021. PMID: 34247705 Review.
The cranial fontanelles and sutures have several benign variations, including most cases of "early" or "late" closure of the anterior fontanelle, bathrocephaly, overriding sutures, and benign metopic ridging. However, recognizing true craniosynostosis and referring the pat …
The cranial fontanelles and sutures have several benign variations, including most cases of "early" or "late" closure of the anterior fontan …
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.
The etiology of craniosynostoses may involve genetic (also somatic mosaicism and regulatory mutations) and epigenetic factors, as well as environmental factors. According to the published data, chromosomal aberrations, mostly submicroscopic ones, account for about 6
The etiology of craniosynostoses may involve genetic (also somatic mosaicism and regulatory mutations) and epigenetic factors, as wel …
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR. Tønne E, et al. Eur J Hum Genet. 2021 Jun;29(6):920-929. doi: 10.1038/s41431-020-00788-4. Epub 2020 Dec 7. Eur J Hum Genet. 2021. PMID: 33288889 Free PMC article.
An accurate diagnosis of syndromic craniosynostosis (CS) is important for personalized treatment, surveillance, and genetic counselling. ...
An accurate diagnosis of syndromic craniosynostosis (CS) is important for personalized treatment, surveillance, and genetic counselli …
Treatment of Syndromic Craniosynostosis by Anterior and Posterior Vault Distraction Osteogenesis (A-PVDO).
Shen W, Cui J, Chen J, Yi J, Kong L, Sun B. Shen W, et al. J Craniofac Surg. 2022 Mar-Apr 01;33(2):654-656. doi: 10.1097/SCS.0000000000008289. J Craniofac Surg. 2022. PMID: 34690305
OBJECTIVE: To explore the feasibility and therapeutic effect of anterior and posterior vault distraction osteogenesis (A-PVDO) in the treatment of infantile syndromic craniosynostosis. ...Bone distraction was initiated on postoperative day 5 at the rate of 0.4 to 0. …
OBJECTIVE: To explore the feasibility and therapeutic effect of anterior and posterior vault distraction osteogenesis (A-PVDO) in the …
Computer-assisted craniometric evaluation for diagnosis and follow-up of craniofacial asymmetries: SymMetric v. 1.0.
Lopes Alho EJ, Rondinoni C, Furokawa FO, Monaco BA. Lopes Alho EJ, et al. Childs Nerv Syst. 2020 Jun;36(6):1255-1261. doi: 10.1007/s00381-019-04451-2. Epub 2019 Dec 9. Childs Nerv Syst. 2020. PMID: 31820081
Although it does not substitute CT in cases of doubt between craniosynostosis and positional plagiocephaly, multiple numeric evaluations indicate regional deformities and severity of the asymmetry, which can help in the clinical decision of indicating or not the orthosis i …
Although it does not substitute CT in cases of doubt between craniosynostosis and positional plagiocephaly, multiple numeric evaluati …
Evaluation of the OSA treatment protocol in syndromic craniosynostosis during the first 6 years of life.
de Goederen R, Yang S, Pullens B, Wolvius EB, Joosten KFM, Mathijssen IMJ. de Goederen R, et al. J Plast Reconstr Aesthet Surg. 2021 Oct;74(10):2674-2682. doi: 10.1016/j.bjps.2021.03.033. Epub 2021 Mar 28. J Plast Reconstr Aesthet Surg. 2021. PMID: 34112566
INTRODUCTION: Obstructive sleep apnea (OSA) is frequently present in patients with syndromic craniosynostosis. The aim of this study is to determine the long-term effectiveness of our OSA treatment protocol in our tertiary center in a cohort of children with syndromic c
INTRODUCTION: Obstructive sleep apnea (OSA) is frequently present in patients with syndromic craniosynostosis. The aim of this study …
Endoscopic treatment of sagittal suture synostosis - a critical analysis of current management strategies.
Fassl V, Ellermann L, Reichelt G, Pape P, Blecher C, Hoffmann C, Ringel F, Al-Nawas B, Heider J, Ottenhausen M. Fassl V, et al. Neurosurg Rev. 2022 Aug;45(4):2533-2546. doi: 10.1007/s10143-022-01762-y. Epub 2022 Apr 6. Neurosurg Rev. 2022. PMID: 35384543 Free PMC article. Review.
A total of 188 patients were female and 537 male (sex was only specified in 10 articles, for 725 included patients, respectively). Median age at surgery was between 2.6 and 3.9 months with a total range from 1.5 to 7.0 months. Preoperative diagnostics included clinical and …
A total of 188 patients were female and 537 male (sex was only specified in 10 articles, for 725 included patients, respectively). Median ag …
Pain Management for Nonsyndromic Craniosynostosis: Adequate Analgesia in a Pediatric Cohort?
Kattail D, Macmillan A, Musavi L, Pedreira R, Faateh M, Cho R, Lopez J, Dorafshar AH. Kattail D, et al. J Craniofac Surg. 2018 Jul;29(5):1148-1153. doi: 10.1097/SCS.0000000000004406. J Craniofac Surg. 2018. PMID: 29489571
BACKGROUND: Postoperative pain following open craniosynostosis repair has not been studied extensively and is sometimes thought to be inconsequential. ...METHODS: We performed a retrospective chart review of patients (n = 54) undergoing primary open craniosynostosis
BACKGROUND: Postoperative pain following open craniosynostosis repair has not been studied extensively and is sometimes thought to be …
72 results