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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 -
Clinics in Plastic Surgery Jul 2021Anatomic studies have identified that patients with Treacher Collins syndrome and some cases of bilateral craniofacial microsomia are characterized by multilevel airway... (Review)
Review
Anatomic studies have identified that patients with Treacher Collins syndrome and some cases of bilateral craniofacial microsomia are characterized by multilevel airway obstruction as a result of hypoplasia and clockwise rotation of the maxillomandibular complex. Patients often remain tracheostomy-dependent despite multiple airway surgeries. Counterclockwise craniofacial distraction osteogenesis aims to correct the facial skeletal deformity and expand the upper airway volume by rotating the subcranial complex en bloc around the nasofrontal junction. Early results have demonstrated significant increases in the nasopharyngeal and oropharyngeal airway volumes with successful decannulation in a majority of patients who have undergone this operation.
Topics: Airway Obstruction; Facial Bones; Female; Goldenhar Syndrome; Humans; Male; Mandible; Mandibulofacial Dysostosis; Osteogenesis, Distraction; Tracheostomy
PubMed: 34051897
DOI: 10.1016/j.cps.2021.02.006 -
Clinics in Plastic Surgery Jul 2021Treacher Collins syndrome (TCS) is a genetic disorder that presents with a variety of craniofacial deformities. One classic feature of TCS is a steep, counterclockwise... (Review)
Review
Treacher Collins syndrome (TCS) is a genetic disorder that presents with a variety of craniofacial deformities. One classic feature of TCS is a steep, counterclockwise rotation of the occlusal plane, and microretrognathia with bony deficiencies in both the body and ramus of the mandible. This morphology commonly necessitates reconstruction by the craniofacial surgeon. This article discusses strategies and considerations for surgically correcting the mandibular deformity associated with TCS using mandibular distraction osteogenesis and other related techniques. The proper implementation of these techniques can yield excellent results that greatly improve quality of life in this challenging patient population.
Topics: Humans; Mandible; Mandibular Advancement; Mandibulofacial Dysostosis; Orthognathic Surgical Procedures; Osteogenesis, Distraction; Quality of Life
PubMed: 34051896
DOI: 10.1016/j.cps.2021.02.005 -
Atlas of the Oral and Maxillofacial... Mar 2022
Review
Topics: Craniosynostoses; Humans; Infant; Plastic Surgery Procedures; Treatment Outcome
PubMed: 35256111
DOI: 10.1016/j.cxom.2021.11.003 -
Neurosurgery Clinics of North America Jan 2022Craniosynostosis involves the premature fusion of 1 or more cranial sutures and commonly presents as an isolated, nonsyndromic diagnosis. A subset of patients have... (Review)
Review
Craniosynostosis involves the premature fusion of 1 or more cranial sutures and commonly presents as an isolated, nonsyndromic diagnosis. A subset of patients have syndromic craniosynostosis. Several unique considerations must be taken into account when managing patients with syndromic craniosynostosis. A multidisciplinary craniofacial team with a central coordinator is particularly useful for coordinating care among various specialists, and close monitoring is mandatory owing to the increased risk of intracranial hypertension. Surgical management varies among centers, but core options include fronto-orbital advancement with cranial vault remodeling, posterior vault expansion, endoscopic-assisted suturectomy with postoperative orthotic therapy, and midface advancement.
Topics: Craniosynostoses; Humans; Infant; Intracranial Hypertension; Skull; Syndrome
PubMed: 34801135
DOI: 10.1016/j.nec.2021.09.008 -
Child's Nervous System : ChNS :... Feb 2021Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities... (Review)
Review
Pfeiffer syndrome (PS) is a rare autosomal dominant craniofacial disorder characterized by primary craniosynostosis, midface hypoplasia, and extremities' abnormalities including syndactyly. The purpose of this article was to review the current knowledge regarding how PS affects the nervous system. Methodologically, we conducted a systematic review of the existing literature concerning involvement of the nervous system in PS. Multiple-suture synostosis is common, and it is the premature fusion and abnormal growth of the facial skeleton's bones that cause the characteristic facial features of these patients. Brain abnormalities in PS can be primary or secondary. Primary anomalies are specific developmental brain defects including disorders of the white matter. Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malformation. Spinal anomalies in PS patients include fusion of vertebrae, "butterfly" vertebra, and sacrococcygeal extension. Different features have been observed in different types of this syndrome. Cloverleaf skull deformity characterizes PS type II. The main neurological abnormalities are mental retardation, learning difficulties, and seizures. The tricky neurological examination in severely affected patients makes difficult the early diagnosis of neurological and neurosurgical complications. Prenatal diagnosis of PS is possible either molecularly or by sonography, and the differential diagnosis includes other craniosynostosis syndromes. Knowing how PS affects the nervous system is important, not only for understanding its pathogenesis and determining its prognosis but also for the guidance of decision-making in the various critical steps of its management. The latter necessitates an experienced multidisciplinary team.
Topics: Acrocephalosyndactylia; Brain; Craniosynostoses; Facial Bones; Humans; Hydrocephalus
PubMed: 33083874
DOI: 10.1007/s00381-020-04934-7 -
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 -
Plastic and Reconstructive Surgery Jun 2022After studying this article, the participant should be able to: 1. Understand the craniofacial dysmorphology of craniosynostosis, and the variation of each type. 2....
LEARNING OBJECTIVES
After studying this article, the participant should be able to: 1. Understand the craniofacial dysmorphology of craniosynostosis, and the variation of each type. 2. Identify the functional concerns and learn the rationale behind timing of operative intervention. 3. Approach each dysmorphology critically and identify the operative intervention needed to improve form and function 4. Understand and address the specific issues related to syndromic craniosynostosis and be able to delineate management plan.
SUMMARY
Craniosynostosis is a condition in which premature fusion of one or more cranial sutures lead to abnormal head shape and growth restriction of the brain. Nonsyndromic craniosynostosis occurs in isolation, and usually involves a single suture, whereas syndromic craniosynostosis may involve multiple sutures and is associated with extracraniofacial findings. Although surgical management can be similar, the treatment plan must take into consideration issues specific to the syndromes. This article aims to provide a concise overview of the authors' current understanding regarding the presentation, treatment principle, surgical option, and debates in craniosynostosis.
Topics: Cranial Sutures; Craniosynostoses; Humans; Neurosurgical Procedures; Sutures; Syndrome
PubMed: 35613293
DOI: 10.1097/PRS.0000000000009046 -
Neuro-Chirurgie Nov 2019Craniosynostosis (CS) is defined as the premature fusion of cranial sutures, leading to an abnormal skull shape. The overall incidence is between 1: 2,000 and 1: 3,000... (Review)
Review
Craniosynostosis (CS) is defined as the premature fusion of cranial sutures, leading to an abnormal skull shape. The overall incidence is between 1: 2,000 and 1: 3,000 live births. Genetic causes are found in 20% of cases. CS can be isolated (non-syndromic CS/NSCS) or they can be part of multiple congenital abnormalities syndromes (syndromic CS/SCS). A few SCS, such as Crouzon, Pfeiffer, Apert and Saethre-Chotzen syndromes, are very well known and their molecular bases have been clarified in the 90s and early 2000s, thus showing the major role of the FGF receptors and TWIST signaling pathways in the etiology of these conditions. The recent availability of powerful molecular tools for genetic diagnosis, such as whole exome or whole genome sequencing, has led to the characterization of the molecular bases of an increasing number of CS, thus emphasizing the significant genetic heterogeneity of these conditions, and blurring the limit between SCS and NSCS. The genetic characterization of patients affected by CS leads to appropriate genetic counseling and provides relevant information concerning comorbidity and prognosis. Nevertheless, this can also lead to the detection of susceptibility factors with low penetrance whose interpretation in genetic counseling is difficult and it raises the question of its cost-effectiveness for health systems. These aspects suggest the need of a patient-tailored clear rationale for performing genetic tests. In this study, we reviewed the main molecular etiologies reported in the last 15 years of either SCS or NSCS, and we propose a systematic multidisciplinary approach as well as a diagnostic flowchart for the genetic evaluation of these patients.
Topics: Adult; Craniosynostoses; Genetic Testing; Humans; Infant, Newborn; Syndrome
PubMed: 31605683
DOI: 10.1016/j.neuchi.2019.10.003 -
Plastic and Reconstructive Surgery Aug 2022Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have... (Review)
Review
BACKGROUND
Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors.
METHODS
The authors conducted a retrospective chart review of all children with syndromic craniosynostosis treated at a single center.
RESULTS
Of 442 patients with syndromic craniosynostosis, complete ophthalmologic records were available for 253. Although no instances of optic nerve atrophy were noted among those with Saethre-Chotzen or Muenke syndromes, an overall 14.7 percent prevalence was noted among those with Apert (7.8 percent), Crouzon (27.9 percent), and Pfeiffer syndromes (23.1 percent), with initial diagnoses occurring at a mean age of 10 years. The presence of a Chiari malformation was found to significantly correlate with the subsequent diagnosis of optic nerve atrophy (OR, 3.544; p = 0.002); however, the timing of the first cranial vault procedure, presence of a ventriculoperitoneal shunt, degree of brachycephaly, number of vault expansions, and diagnosis of sleep apnea, did not show significant associations.
CONCLUSIONS
A substantial percentage of children with Apert, Crouzon, and Pfeiffer syndromes were found to develop optic nerve atrophy, with a prevalence likely to trend higher with longer follow-up. Chiari malformations were the only significant potential predictor for optic nerve atrophy. With the goal of preventing visual losses, more frequent monitoring for raised intracranial pressure with ophthalmologic evaluations and magnetic resonance imaging measurements of optic nerve sheath diameters should be considered.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, III.
Topics: Acrocephalosyndactylia; Arnold-Chiari Malformation; Atrophy; Child; Craniosynostoses; Humans; Infant; Optic Nerve; Retrospective Studies
PubMed: 35671456
DOI: 10.1097/PRS.0000000000009367