-
Facial Plastic Surgery Clinics of North... Feb 2024We describe the investigation and management of select pediatric craniofacial disorders their recent advances. Positional plagiocephaly: The incidence of positional... (Review)
Review
We describe the investigation and management of select pediatric craniofacial disorders their recent advances. Positional plagiocephaly: The incidence of positional plagiocephaly has increased since the institution of the "safe to sleep" campaign to reduce sudden infant death syndrome. Positional plagiocephaly may be associated with underlying developmental delay. Nonsyndromic craniosynostosis: Treatment of nonsyndromic craniosynostosis depends on the age of the patient and the suture involved. Pediatric skull lesions: Management of skull lesions depends on histologic diagnosis. Some benign skull lesions are managed conservatively, whereas erosive and malignant lesions may require surgical excision, radiotherapy, chemotherapy, or multimodality treatment.
Topics: Infant; Humans; Child; Plagiocephaly, Nonsynostotic; Skull; Combined Modality Therapy; Craniosynostoses; Neurosurgical Procedures
PubMed: 37981408
DOI: 10.1016/j.fsc.2023.06.004 -
Biological Reviews of the Cambridge... Oct 2023Cranial bones constitute a protective shield for the vulnerable brain tissue, bound together as a rigid entity by unique immovable joints known as sutures. Cranial... (Review)
Review
Cranial bones constitute a protective shield for the vulnerable brain tissue, bound together as a rigid entity by unique immovable joints known as sutures. Cranial sutures serve as major growth centres for calvarial morphogenesis and have been identified as a niche for mesenchymal stem cells (MSCs) and/or skeletal stem cells (SSCs) in the craniofacial skeleton. Despite the established dogma of cranial bone and suture biology, technological advancements now allow us to investigate these tissues and structures at unprecedented resolution and embrace multiple novel biological insights. For instance, a decrease or imbalance of representation of SSCs within sutures might underlie craniosynostosis; dural sinuses enable neuroimmune crosstalk and are newly defined as immune hubs; skull bone marrow acts as a myeloid cell reservoir for the meninges and central nervous system (CNS) parenchyma in mediating immune surveillance, etc. In this review, we revisit a growing body of recent studies that explored cranial bone and suture biology using cutting-edge techniques and have expanded our current understanding of this research field, especially from the perspective of development, homeostasis, injury repair, resident MSCs/SSCs, immunosurveillance at the brain's border, and beyond.
Topics: Humans; Skull; Cranial Sutures; Craniosynostoses; Morphogenesis; Sutures
PubMed: 37171117
DOI: 10.1111/brv.12975 -
Current Eye Research Oct 2023To summarize the ophthalmic manifestations of unilateral coronal synostosis patients. (Review)
Review
PURPOSE
To summarize the ophthalmic manifestations of unilateral coronal synostosis patients.
METHODS
We performed a literature search in the electronic database of PubMed, CENTRAL, Cochrane, and Ovid Medline guided by Preferred Reporting Items for Systematic Reviews and Meta-Analysis Statement for studies evaluating ophthalmic manifestations of unilateral coronal synostosis.
RESULTS
Unilateral coronal synostosis, also called unicoronal synostosis, may be mistaken for deformational plagiocephaly, an asymmetric skull flattening common in newborns. Characteristic facial features, however, distinguish the two. Ophthalmic manifestations of unilateral coronal synostosis include a "harlequin deformity", anisometropic astigmatism, strabismus, amblyopia, and significant orbital asymmetry. The astigmatism is greater on the side opposite the fused coronal suture. Optic neuropathy is uncommon unless unilateral coronal synostosis accompanies more complex multi-suture craniosynostosis. In many cases, surgical intervention is recommended; without intervention, skull asymmetry and ophthalmic disorders tend to worsen with time. Unilateral coronal synostosis can be managed by early endoscopic stripping of the fused suture and helmeting through a year of age or by fronto-orbital-advancement at approximately 1 year of age. Several studies have demonstrated that anisometropic astigmatism, amblyopia, and severity of strabismus are significantly lower after earlier intervention with endoscopic strip craniectomy and helmeting compared to treatment by fronto-orbital-advancement. It remains unknown whether the earlier timing or the nature of the procedure is responsible for the improved outcomes. As endoscopic strip craniectomy can only be performed in the first few months of life, early recognition of the facial, orbital, eyelid, and ophthalmic characteristics by consultant ophthalmologists enables expeditious referral and optimized ophthalmic outcomes.
CONCLUSION
Timely identification of craniofacial and ophthalmic manifestations of infants with unilateral coronal synostosis is important. Early recognition and prompt endoscopic treatment appears to optimize ocular outcomes.
Topics: Infant, Newborn; Infant; Humans; Amblyopia; Astigmatism; Retrospective Studies; Craniosynostoses; Strabismus
PubMed: 37382098
DOI: 10.1080/02713683.2023.2224536 -
The Cleft Palate-craniofacial Journal :... Oct 2023The squamosal suture (SQS) joins the temporal to the parietal bones bilaterally and is a poorly described site of craniosynostosis. SQS fusion is thought to occur as... (Review)
Review
INTRODUCTION
The squamosal suture (SQS) joins the temporal to the parietal bones bilaterally and is a poorly described site of craniosynostosis. SQS fusion is thought to occur as late as the fourth decade of life and beyond; however, we have incidentally noted its presence among our pediatric patients and hypothesize that it may occur earlier in life and more frequently than previously believed.
METHODS
A retrospective review of imaging performed on pediatric patients was completed to identify patients with SQS synostosis. This included a review of clinical notes as well as computed tomography (CT) images obtained by our craniofacial clinic. Relevant patient data and imaging were reviewed.
RESULTS
Forty-seven patients were identified with SQS synostosis, 21 were female (45%). Age at the time of radiographic diagnosis was 10.1 ± 8.4 years (range 17 days to 27 years). A majority of patients had bilateral SQS synostosis (57%), with a relatively even distribution of unilateral right (23%) versus left (19%). SQS was an isolated finding (no other suture involvement) in 15 patients (32%), all of whom were normocephalic and did not require surgical intervention. Thirty-two patients (68%) had concomitant craniosynostosis of other sutures, most commonly sagittal and coronal. Nine patients (19%) underwent surgery to correct cranial malformations-all these patients had multi-suture synostosis ( = 0.012). Twenty-seven patients (57%) had SQS synostosis diagnosed incidentally compared to 20 (43%) who were imaged with suspicion for synostosis. In those who were symptomatic, common findings included developmental delay, elevated intracranial pressure, hydrocephalus, seizures, and visual/hearing impairments. Ten patients (21%) were syndromic, the most frequent of which was Crouzon syndrome. No single pattern of calvarial malformation could be definitively described for SQS synostosis.
CONCLUSION
Given that most isolated SQS synostosis cases were normocephalic, asymptomatic, and discovered incidentally, it is likely that there are many cases of unidentified SQS synostosis. The significance of SQS synostosis is currently unclear, and warrants further investigation into this phenomenon, its natural course, and its potential presence in the spectrum of normal development.
Topics: Humans; Child; Female; Infant; Infant, Newborn; Male; Cranial Sutures; Craniosynostoses; Craniofacial Dysostosis; Retrospective Studies; Sutures
PubMed: 35593077
DOI: 10.1177/10556656221100675 -
Orthopaedics & Traumatology, Surgery &... Feb 2024Adult tarsal coalition consists in abnormal union of two or more tarsal bones. Reported incidence ranges between 1 and 13%. It is generally a congenital condition, due... (Review)
Review
Adult tarsal coalition consists in abnormal union of two or more tarsal bones. Reported incidence ranges between 1 and 13%. It is generally a congenital condition, due to dominant autosomal chromosome disorder, but with some acquired forms following trauma or inflammatory pathology. Poorly specific clinical signs and the difficulty of screening on conventional X-ray may lead to diagnostic failure. The present review of tarsal coalition addresses the following questions: how to define tarsal coalition? How to diagnose it? How to treat it? And what results can be expected? There are 3 types of tarsal coalition, according to the type of tissue between the united bones: bony in pure synostosis, cartilaginous in synchondrosis, and fibrous in syndesmosis. Location varies; the most frequent forms are talocalcaneal (TC) and calcaneonavicular (CN), accounting for more than 90% of cases. Cuneonavicular, intercuneal and cuboideonavicular locations are much rarer, at less than 10%. Tarsal coalition is classically painful, often with valgus spastic flatfoot in young adults. The pain is caused by the biomechanical disturbance induced by the bone, cartilage or fibrous bridges which partially or completely hinder hindfoot and/or midfoot motion. Conventional imaging, with weight-bearing X-ray and CT, is standard practice. Weight-bearing CT is increasingly the gold standard, displaying abnormalities in 3 dimensions. Functional imaging on MRI and tomoscintigraphy assess direct and indirect joint impact at the affected and neighboring joint lines. Non-operative treatment can be proposed, with orthoses, rehabilitation and/or injections. But surgery is the most frequent option: either resection of the bony, cartilaginous or fibrous constructs to restore optimally normal anatomy, or arthrodesis in the affected joint line or the entire joint. Surgery can be open, arthroscopic or percutaneous, depending on the severity of the biomechanical impact on the affected and neighboring joints. Resecting the abnormality is the standard practice in all locations if it affects less than 50% of the talocalcaneal joint line and there is no osteoarthritis to impair the functional outcome. Otherwise, fusion is required. Level of evidence: V; expert opinion.
Topics: Young Adult; Humans; Tarsal Coalition; Tarsal Bones; Radiography; Magnetic Resonance Imaging; Arthrodesis; Pain
PubMed: 37979676
DOI: 10.1016/j.otsr.2023.103761 -
JAMA Dermatology Sep 2023
Topics: Humans; Focal Dermal Hypoplasia
PubMed: 37531122
DOI: 10.1001/jamadermatol.2023.2435 -
Communications Biology Jul 2023Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured... (Meta-Analysis)
Meta-Analysis
Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analysis (n ~ 43,800) of SK-BMD, identifying 59 loci, collectively explaining 12.5% of the trait variance. Association signals cluster within gene-sets involved in skeletal development and osteoporosis. Among the four novel loci (ZIC1, PRKAR1A, AZIN1/ATP6V1C1, GLRX3), there are factors implicated in intramembranous ossification and as we show, inherent to craniosynostosis processes. Functional follow-up in zebrafish confirms the importance of ZIC1 on cranial suture patterning. Likewise, we observe abnormal cranial bone initiation that culminates in ectopic sutures and reduced BMD in mosaic atp6v1c1 knockouts. Mosaic prkar1a knockouts present asymmetric bone growth and, conversely, elevated BMD. In light of this evidence linking SK-BMD loci to craniofacial abnormalities, our study provides new insight into the pathophysiology, diagnosis and treatment of skeletal diseases.
Topics: Animals; Bone Density; Genome-Wide Association Study; Zebrafish; Skull; Craniosynostoses; Transcription Factors
PubMed: 37402774
DOI: 10.1038/s42003-023-04869-0 -
Oral Diseases Sep 2023The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia (HFM). Patients often accompany short mandible, ear dysplasia, facial nerve,... (Review)
Review
The second most frequent craniomaxillofacial congenital deformity is hemifacial microsomia (HFM). Patients often accompany short mandible, ear dysplasia, facial nerve, and soft tissue dysplasia. The etiology of HFM is not fully understood. To organize the possible up-to-date information on the etiology, craniofacial phenotypes, and therapeutic alternatives in order to fully comprehend the HFM. Reviewing the potential causes, exploring the clinical features of HFM and summarizing the available treatment options. Vascular malformation, Meckel's cartilage abnormalities, and cranial neural crest cells (CNCCs) abnormalities are three potential etiology hypotheses. The commonly used clinical classification for HFM is OMENS, OMENS-plus, and SAT. Other craniofacial anomalies, like dental defects, and zygomatic deformities, are still not precisely documented in the classification. Patients with moderate phenotypes may not need any treatment from infancy through adulthood. However, patients with severe HFM require to undergo multiple surgeries to address facial asymmetries, such as mandibular distraction osteogenesis (MDO), autologous costochondral rib graft (CCG), orthodontic and orthognathic treatment, and facial soft tissue reconstruction. It is anticipated that etiology research will examine the pathogenic mechanism of HFM. A precise treatment for HFM may be possible with thoroughly documented phenotypes and a pathogenic diagnosis.
Topics: Humans; Goldenhar Syndrome; Facial Asymmetry; Mandible
PubMed: 36648381
DOI: 10.1111/odi.14508