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The Journal of Craniofacial SurgeryMidface advancement at the monobloc level can be the seminal life event for patients with craniofacial dysostosis. Monobloc reconstruction, when planned appropriately,...
Midface advancement at the monobloc level can be the seminal life event for patients with craniofacial dysostosis. Monobloc reconstruction, when planned appropriately, can simultaneously and definitively address multiple functional and aesthetic deficiencies in these patients. The application of distraction has reduced the morbidity experienced with traditional monobloc surgery. The purpose of this study is to report on the outcomes, stability, and growth in younger patients after monobloc advancement in syndromic craniosynostosis patients. The authors report a consecutive series of thirty patients with craniofacial dysostosis treated through monobloc differential distraction osteogenesis. Detailed history, photographic, and long-term radiographic data are reviewed, including a subset of patients who were skeletally immature at the time of their treatment. Differential distraction allows control of midface pitch, roll, and yaw, optimizing functional and aesthetic outcomes. There were no infectious complications requiring reoperation. The average surgical age for all patients was 12.5 years. For the 7 patients age <7 years, average age was 6 years. For all patients, the mean horizontal movement was 12 mm at nasion and 10 mm at A-point. At mean follow-up (4.8 years entire group and 6.2 years age <7 years group) a positive horizontal advancement of 1.1 mm at nasion and 0.8 mm at A-point was observed. More pronounced positive horizontal changes were seen in the age <7 years group. Monobloc differential distraction osteogenesis affords safe and precise repositioning of the midface. The advancement is skeletally stable and young patients show moderate continued growth.
Topics: Child; Craniofacial Dysostosis; Craniosynostoses; Esthetics, Dental; Face; Humans; Osteogenesis, Distraction
PubMed: 34967523
DOI: 10.1097/SCS.0000000000008111 -
In Vivo (Athens, Greece) 2023Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%),... (Review)
Review
Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while in other cases (15%) as part of syndromes (syndromic craniosynostosis). Patients with syndromic disorder usually have more severe symptoms compared to those with single suture synostosis. Most common syndromes of craniosynostosis include Pfeiffer, Apert, Crouzon, Jackson-Weiss, Muenke and Boston type MSX2-related syndrome. The main gene mutations in craniosynostosis involve FGFR1, FGFR2, FGFR3, TWIST1 and MSX2, which encode key factors influencing cranial bone morphogenesis. The main therapeutic approaches are surgical as discussed in this review, and the type of therapy depends on the graveness of the incident.
Topics: Humans; Craniosynostoses; Skull; Mutation; Syndrome
PubMed: 36593018
DOI: 10.21873/invivo.13052 -
European Journal of Medical Genetics Jun 2021This article reviews the development of research in the field of craniosynostosis from a bibliometric standpoint. Craniosynostosis is a malformation occurring during the... (Review)
Review
This article reviews the development of research in the field of craniosynostosis from a bibliometric standpoint. Craniosynostosis is a malformation occurring during the early development of the skull, when one or more of the sutures close too early, causing problems with normal brain and skull growth. Research in this field has developed from early clinical case descriptions, to genetic discoveries responsible for the occurring malformations and onwards to developing sophisticated surgical treatment. In this article we describe these developments, zoom in on publication trends and characteristics and visualize developing networks and topic shifts in this research field.
Topics: Bibliometrics; Biomedical Research; Craniosynostoses; Genetics, Medical; Humans; Periodicals as Topic
PubMed: 33866005
DOI: 10.1016/j.ejmg.2021.104224 -
Foot and Ankle Clinics Dec 2021Tarsal coalition is determined by an absence of segmentation between one or more foot bones. The main symptom is activity-related foot pain, usually dorsolateral for... (Review)
Review
Tarsal coalition is determined by an absence of segmentation between one or more foot bones. The main symptom is activity-related foot pain, usually dorsolateral for calcaneonavicular coalitions and medial for talocalcaneal ones. At presentation, a symptomatic tarsal coalition must be treated conservatively for at least 6 months. If the conservative treatment fails and the foot is still painful, resection is the treatment of choice. Advantage of surgery is to restore mobility and reduce the risk of subsequent degenerative arthritis. Common pitfalls of surgery include failure to recognize associated coalitions, inadequate or extensive resection, and injury of adjoining bones.
Topics: Conservative Treatment; Humans; Synostosis; Tarsal Bones; Tarsal Coalition
PubMed: 34752242
DOI: 10.1016/j.fcl.2021.07.011 -
Child's Nervous System : ChNS :... Nov 2022The foramen magnum (FM) presents various alterations in craniosynostoses, such as brachycephaly or Crouzon syndrome. However, to date, no study has been devoted to its...
PURPOSE
The foramen magnum (FM) presents various alterations in craniosynostoses, such as brachycephaly or Crouzon syndrome. However, to date, no study has been devoted to its morphology and morphometry in scaphocephaly, which is the most common of cranial deformities resulting from premature fusion of cranial sutures.
METHODS
We assessed the morphology and morphometry of FM using preoperative thin-cut CT scans of 107 children with non-syndromic sagittal craniosynostosis aged 1-12 months (mean age 5.38 months). A series of sagittal and transverse dimensions were taken and the FM area was calculated in each case. Obtained data were compared to the age-matched control group of 101 normocephalic children.
RESULTS
Dolichotrematous type of FM was dominant in the scaphocephaly group and observed in 63/107 cases (58.9%). The mean FM area in the scaphocephaly group was 519.64 mm and was significantly smaller compared to the control group (p = 0.0011). The transverse diameter and anterior sagittal diameter were also significantly smaller (p = 0.0112 and p = 0.0003, respectively).
CONCLUSION
The area of FM in scaphocephaly is smaller compared to normal individuals. This is associated with a significant reduction of the width of FM in children with sagittal craniosynostosis. FM in scaphocephaly is larger than in other reported series of children with brachycephaly or Crouzon syndrome.
Topics: Child; Humans; Infant; Foramen Magnum; Craniosynostoses; Craniofacial Dysostosis; Cranial Sutures; Tomography, X-Ray Computed; Skull
PubMed: 35931858
DOI: 10.1007/s00381-022-05624-2 -
Foot (Edinburgh, Scotland) Dec 2021The standard of care in the treatment of symptomatic tarsal coalitions is open surgery. However, certain limitations exist with open surgery, which include limited... (Review)
Review
INTRODUCTION
The standard of care in the treatment of symptomatic tarsal coalitions is open surgery. However, certain limitations exist with open surgery, which include limited visualization leading to an incomplete resection and possible recurrence of the tarsal coalition. Arthroscopic tarsal coalition resection (TCR) is an alternative that is gaining traction, primarily as the safety profile of posterior ankle and subtalar arthroscopy is more well understood. This study provides a systematic review of the outcomes of arthroscopic TCR.
METHODS
PubMed and Embase were searched independently by 2 reviewers for relevant articles based on predetermined criteria. The subject heading "tarsal coalition" and its related key terms were used.
RESULTS
A total of 416 studies were revealed by the initial search, out of which only 6 met our predetermined inclusion criteria. A total of 42 patients (average age: 17.6 years) were treated with arthroscopic TCR. Thirty-three (78.6%) and 9 (21.4%) patients had talocalcaneal and calcaneonavicular coalitions, respectively. The follow-up period ranged from 6 to 60 months (mean: 26 months), and no recurrence of the tarsal coalition was detected (0.0%). Complications occurred in two (4.8%) patients only, with one developing complex regional pain syndrome (CRPS), and another patient developing hyperesthesia on the medial aspect of the calcaneus.
CONCLUSION
Arthroscopic TCR is a feasible and effective surgery for both CNC and TCC with minimal complications and no disease recurrence at an average of 26 months follow-up. Future high-level of evidence studies are needed to compare the outcomes of open versus arthroscopic TCR.
Topics: Adolescent; Arthroscopy; Calcaneus; Humans; Synostosis; Tarsal Bones; Tarsal Coalition
PubMed: 34597922
DOI: 10.1016/j.foot.2021.101864 -
Neuro-Chirurgie Nov 2019Scaphocephaly increases the rate of some modifications of cognitive and mood profile in a manner that remains to be elucidated. (Review)
Review
BACKGROUND
Scaphocephaly increases the rate of some modifications of cognitive and mood profile in a manner that remains to be elucidated.
OBJECTIVE
We aimed to describe the impact of scaphocephaly on neuropsychological profile and more particularly on the executive functions.
PATIENTS AND METHODS
An experimental group of 19 children older than 5 years, operated on for scaphocephaly, was compared with a control group of 10 children operated on for trigonocephaly, using IQ tasks, attention tasks and mood scales. A group of 6 children from 2 to 4 years old, operated on for scaphocephaly, and a group of 6 children with non-operated scaphocephaly are also described.
RESULTS
Both the experimental group and the control group showed unchanged IQ, whereas attention deficit and anxiety disorder were more frequent in the experimental group. Cognitive profiles differed between groups, with a higher rate of impaired inhibitory control of visual processing in the scaphocephaly group, contrasting with a higher rate of impaired auditory verbal working memory in the trigonocephaly group. Comparable profiles were also found in groups of younger or non-operated children with scaphocephaly.
CONCLUSIONS
Many children with scaphocephaly must cope with a specific neuropsychological profile throughout development. This study suggests the interest for these children and their families of specific follow-up in reference centers.
Topics: Child; Child, Preschool; Craniosynostoses; Humans; Infant; Nervous System Diseases
PubMed: 31585152
DOI: 10.1016/j.neuchi.2019.09.018 -
Child's Nervous System : ChNS :... Nov 2023Oxycephaly is a specific phenotype of multi-suture craniosynostosis that is often misrepresented. This study aims to review the relevant literature, clarify the... (Review)
Review
PURPOSE
Oxycephaly is a specific phenotype of multi-suture craniosynostosis that is often misrepresented. This study aims to review the relevant literature, clarify the diagnostic criteria, and present an alternate approach to its management.
METHODS
Published literature regarding oxycephaly was reviewed from 1997, when the largest series was published, until 2022. All cases at a single institution were then retrospectively reviewed.
RESULTS
Over the last 25 years, four studies met the inclusion criteria, none of which specifically defined oxycephaly. One case, in one study, was potentially consistent with the phenotype. An institutional review yielded two patients who met the original diagnostic criteria set forth by Renier and Marchac. Both patients had unexplained speech delays, mild retinal nerve fiber layer thickening, and diffuse inner table scalloping, along with the characteristic oxycephalic phenotype. One patient also had a direct intracranial pressure (ICP) measurement of 25 mmHg, and the other had a Chiari I malformation. Both were treated with posterior vault distraction osteogenesis (PVDO) to alleviate the cephalo-cranial disproportion while simultaneously allowing for turricephaly correction.
CONCLUSIONS
Oxycephaly presents with late onset multi-suture fusion. Patients have patent sutures at birth. Midface hypoplasia and known syndromic associations are absent. Patients demonstrate supraorbital recession, an obtuse fronto-nasal angle, and turricephaly without substantial brachycephaly. Over 60% of patients have symptomatic ICP elevation, the presentation of which ranges from headaches to rapidly progressive blindness. This rare form of craniosynostosis is particularly virulent and likely often missed due to diagnostic ambiguity and its relatively mild phenotype.
Topics: Infant, Newborn; Humans; Infant; Retrospective Studies; Craniosynostoses; Skull; Intracranial Pressure; Intracranial Hypertension; Osteogenesis, Distraction
PubMed: 37493719
DOI: 10.1007/s00381-023-06048-2 -
Obstetrical & Gynecological Survey Oct 2020Craniosynostosis is a fetal condition caused by premature closure of the cranial sutures. Through provider awareness, we can raise suspicion in high-risk individuals,... (Review)
Review
IMPORTANCE
Craniosynostosis is a fetal condition caused by premature closure of the cranial sutures. Through provider awareness, we can raise suspicion in high-risk individuals, increase prenatal detection, optimize genetic testing, perform appropriate antenatal surveillance and delivery planning, and allow for a comprehensive, multidisciplinary approach to treatment.
OBJECTIVE
The aim of this study was to review what is currently known regarding the genetics, pathophysiology, diagnosis, and treatment of craniosynostosis for the obstetric care provider.
EVIDENCE ACQUISITION
A comprehensive literature review was performed using the PubMed database with the search term "craniosynostosis." The search was limited to the English language.
RESULTS
A total of 220 articles were identified, and a total of 53 were used in completion of this article. The results highlight the multiple factors involved with abnormal suture formation, including various genetic factors. Although rare at this time, prenatal detection can allow families to prepare and practitioners to provide appropriate clinical treatment. Both 3-dimensional sonography and magnetic resonance imaging have been identified as modalities to aid in detection for high-risk individuals. Early referral allows for less-invasive surgical outcomes with lower complication rates.
RESULTS
Familiarity with craniosynostosis among obstetric providers can improve patient counseling, prenatal detection rates, and appropriate antepartum, intrapartum, and postpartum counseling.
Topics: Cranial Sutures; Craniosynostoses; Female; Humans; Imaging, Three-Dimensional; Infant; Infant, Newborn; Magnetic Resonance Imaging; Patient Care Team; Pregnancy; Prenatal Diagnosis; Ultrasonography
PubMed: 33111964
DOI: 10.1097/OGX.0000000000000830 -
No Shinkei Geka. Neurological Surgery Nov 2022Distraction osteogenesis is the standard surgical procedure for cranioplasty in children over 6 months of age. This technique carries a risk of detachment of the...
Distraction osteogenesis is the standard surgical procedure for cranioplasty in children over 6 months of age. This technique carries a risk of detachment of the extender and infection during the course, but such troubles can be reduced by accumulating surgical experience. In addition, furing distraction osteogenesis, the cranium can be sufficiently expanded by slowly stretching the scalp, while adjustment ensures that the facial appearance does not change too much. In this paper, I will explain the surgical technique and postoperative management, focusing on FOA(Fronto-orbital advancement)for trigonocephaly or brachycephaly and BPE(Bilateral parietal expansion)for scaphocephaly. The point of surgery in FOA is the osteotomy of the orbital bar. The osteotomy can be performed safely and easily using a wire saw. The aim of surgery in BPE is to extend an osteotomy up to the front of the coronal suture and down to the part near the cranial floor. This allows improvements of the cranial shape while sufficiently increasing the cranial volume.
Topics: Child; Humans; Osteogenesis, Distraction; Craniosynostoses; Skull; Scalp
PubMed: 36426525
DOI: 10.11477/mf.1436204691