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International Journal of Oral and... Apr 2024To determine the skeletal changes after midface surgery in patients with syndromic craniosynostosis who underwent Le Fort III (LFIII), monobloc (MB), or facial...
To determine the skeletal changes after midface surgery in patients with syndromic craniosynostosis who underwent Le Fort III (LFIII), monobloc (MB), or facial bipartition (FB). This was a retrospective study including 75 patients: 33 treated by LFIII, 29 by MB, and 13 by FB. Twenty-five had a diagnosis of Apert, 39 Crouzon, and 11 craniofrontonasal syndrome. A three-dimensional mesh was created from the preoperative scan and registered to the postoperative scan to visualise the advancement. LFIII at age 7-12 years effectuated a higher mean advancement in the maxillary (15.5 mm) and zygomatic (7.6 mm) regions when compared to ≥13 years (10.2 mm and 5.5 mm). After MB, mean advancement of the fronto-orbital region was higher at <7 years (16.4 mm), and similarly lower at ages 7-12 (13.8 mm) and ≥13 (12.5 mm). The mean preoperative inter-dacryon distance (34.4 ± 4.4 mm) was reduced by 8.7 ± 4.2 mm after FB without distraction (n = 10). More advancement was seen when midface surgery was performed at a younger age, due to more severe cases and a desire for overcorrection. The highest mean advancement was observed in the fronto-orbital region. Antero-inferior rotational movement was seen after all three techniques.
PubMed: 38594167
DOI: 10.1016/j.ijom.2024.03.010 -
Plastic and Reconstructive Surgery Apr 2024Children with syndromic craniosynostosis require multiple cranial expansion procedures. The purpose of this study was to determine how many expansions are typically...
INTRODUCTION
Children with syndromic craniosynostosis require multiple cranial expansion procedures. The purpose of this study was to determine how many expansions are typically performed through maturity, to assess complication rates, and to identify trends that might reduce the burden of care.
METHODS
A retrospective chart review was performed of all consecutive patients undergoing cranial vault enlargement procedures for syndromic craniosynostosis by a single surgeon.
RESULTS
Of 444 patients treated with Apert or Crouzon/Pfeiffer syndromes, 348 had complete long-term records. The mean age at last follow up was 16.9 years. Initial cranial expansions were performed at a significantly younger age for those beginning care at outside centers: 7.7-months versus 25.7-months in Dallas. 26.4% had ventriculoperitoneal shunts (syndrome-specific incidences: Apert 16%, Crouzon 27%, Pfeiffer 54%). Of 498 procedures, 80% were anterior, 18% posterior, and 2% were mid-vaults. The overall complication rate was 2%, with no differences found between anterior and posterior procedures. Those treated solely in Dallas underwent a mean of 1.9 expansions. Children with Pfeiffer syndrome underwent more expansions (2.7) than those with Apert or Crouzon syndromes. Factors correlationing with more expansions included: earlier surgical interventions, use of distraction, venticuloperitoneal shunts, and treatment begun at outside centers (3.1 procedures).
CONCLUSIONS
Children with syndromic craniosynostosis treated at a single center underwent an average of 2 skull expansion procedures with a 2% complication rate. Calvarial distraction, ventriculoperitoneal shunts, and earlier surgical interventions, were all associated with higher numbers of expansion procedures. Further research is needed to determine if these correlations are causal.
PubMed: 38589995
DOI: 10.1097/PRS.0000000000011460 -
The Cleft Palate-craniofacial Journal :... Apr 2024Fronto-orbital advancement involves removal of the fronto-orbital bandeau. Visualization of the saw blade is lost as it passes through the fronto-orbital-sphenoid...
OBJECTIVE
Fronto-orbital advancement involves removal of the fronto-orbital bandeau. Visualization of the saw blade is lost as it passes through the fronto-orbital-sphenoid junction (FOSJ), placing the temporal lobe at risk of injury. We aim to provide a 3D analysis of the space surrounding this osteotomy to differentiate various types of craniosynostoses.
DESIGN
Retrospective cohort.
SETTING
Institutional.
PATIENTS
Thirty patients with isolated unicoronal synostosis, nonsyndromic bicoronal synostosis, metopic synostosis, Apert syndrome, Crouzon syndrome, and Muenke syndrome.
INTERVENTIONS
CT scans conducted between 2 months to 2 years of age were 3D reconstructed to compare craniometrics against normal controls.
MAIN OUTCOME MEASURE(S)
Craniometrics.
RESULTS
The mean bone thickness of the FOSJ at the level of the supraorbital rim was significantly small for the Apert, unicoronal and bicoronal groups. The mean vertical height of the middle cranial fossa from the lesser sphenoid wing was significantly greater in the unicoronal group. The mean vertical height of the tip of the temporal lobe from the lateral sphenoid ridge was greater in the unicoronal, isolated bicoronal, and Apert groups. The mean corneal protrusion beyond the lateral orbital rim was significantly greater in the Apert and unicoronal groups. The mean horizontal depth of the orbit was smallest in the Apert group. The mean vertical distance between the dacryon and the foramen cecum, and the mean volume of temporal lobe beneath the sphenoid shelf were the largest in the Apert group.
CONCLUSIONS
Patients with Apert syndrome have the most unfavorable morphology of the anterior and middle cranial fossae.
PubMed: 38567431
DOI: 10.1177/10556656241245514 -
The Laryngoscope Mar 2024To report the techniques and outcomes of virtual reality (VR) and mixed reality (MR)-assisted powered endoscopic dacryocystorhinostomy (DCR) in extremely complex...
OBJECTIVE
To report the techniques and outcomes of virtual reality (VR) and mixed reality (MR)-assisted powered endoscopic dacryocystorhinostomy (DCR) in extremely complex lacrimal drainage obstructions.
METHODS
A prospective, non-randomized clinical study was performed in complex syndromic congenital nasolacrimal duct obstruction (CNLDO) and post-traumatic secondary acquired lacrimal duct obstruction (SALDO) in the setting of Le Fort fractures. All patients underwent preoperative planning in VR and intraoperative planning with a step ahead with MR assistance during the surgery. Surgery was supported by mixed reality intraoperative guidance with the use of the prearranged 3D models and real-time-rendered digital models. Parameters assessed include demographics, clinical presentation, complexities of the nasolacrimal duct obstruction, preoperative and intraoperative utility of VR and MR models, surgical techniques, complications, and outcomes.
RESULTS
The technique is described as a proof of concept in challenging situations with Apert syndrome and traumatic SALDOs with gross malposition of the sac, and gross nasal and lacrimal anatomical deformities. The VR models helped the surgeon to assess the details of the altered anatomy preoperatively to plan an appropriate approach. Intraoperatively, MR models were present in the surgeon's view without disturbing the endoscopic procedure. Intermittently, the surgeon could pull any of the models virtually present in the operating room, slice them, rotate them, and intricately study the alterations in a stepwise manner, as the surgery proceeds.
CONCLUSION
Virtual reality and mixed reality-assisted powered endoscopic DCR can be an alternate approach reserved for extremely challenging cases of complex syndromic CNLDOs and post-traumatic SALDOs.
LEVEL OF EVIDENCE
Level 4 Laryngoscope, 2024.
PubMed: 38511475
DOI: 10.1002/lary.31399 -
Plastic and Reconstructive Surgery Mar 2024This study assesses operative trends over time and outcomes of five osteotomy techniques used to treat the Apert midface. Using clinical and photogrammetric data, we...
BACKGROUND
This study assesses operative trends over time and outcomes of five osteotomy techniques used to treat the Apert midface. Using clinical and photogrammetric data, we present our institution's selection rationale for correcting specific dysmorphologies of the Apert midface based on the individual phenotype.
METHODS
We retrospectively reviewed patients with Apert syndrome who underwent midface distraction from 2000 to 2023. Patients were temporally divided by the year 2012 to assess differences in surgical approach. Postoperative facial dimension changes, surgical and perioperative characteristics, and complications data were compared across techniques.
RESULTS
Thirty-nine patients with Apert syndrome underwent 41 midface distraction procedures: 23 (56%) in the early cohort and 18 (44%) in the late cohort. The use of segmental osteotomies for frontofacial advancement increased from 0% before 2012 to 61% from 2012 onwards (p<0.001). Monobloc with bipartition was the only technique that decreased intercanthal distance (p=0.016), and Le Fort II with zygomatic repositioning achieved the greatest median change in bilateral canthal tilt of 8.7° (IQR 1.3°, 8.7°; p=0.068). Monobloc with Le Fort II achieved the greatest median change in facial convexity of -34.9° (IQR -43.3°, -29.2°; p=0.031). Severity of complications, stratified by Clavien-Dindo grade, was greater in transcranial than subcranial procedures but similar between segmental and non-segmental osteotomies (p=0.365).
CONCLUSIONS
In studying the Apert midface and attempting to resolve its varying functional and aesthetic issues, we document an evolution towards multi-piece osteotomies over time. With an appreciation for differential midface hypoplasia, segmentation is associated with more effective normalization of the Apert face.
PubMed: 38507553
DOI: 10.1097/PRS.0000000000011415 -
Iranian Journal of Allergy, Asthma, and... Feb 2024Sanjad Sakati Syndrome (SSS) is categorized as a neuroendocrine-related disease due to disorders of the nervous and hormonal systems. Since hormonal changes in these...
Sanjad Sakati Syndrome (SSS) is categorized as a neuroendocrine-related disease due to disorders of the nervous and hormonal systems. Since hormonal changes in these patients may affect the nature and function of the immune system. Thus, in this study, cell count and phagocytotic function of neutrophils were evaluated which may be influenced by changes in the hormonal rate and growth factors. In this study, the neutrophil count value and the oxidative burst were evaluated in six patients diagnosed with SSS and six healthy individuals. There was a significant reduction in the neutrophil count observed in SSS patients compared to healthy controls (37.41±7.93 percent vs. 66.5±6.8 percent). However, there was no significant difference in neutrophil oxidative index between patients with SSS and control subjects (172.33±55.08 vs. 217.00±77.38). We concluded that in patients with SSS, the phagocytic activity of neutrophils was not affected by hormonal changes, while the number of neutrophils and neutrophil-to-lymphocyte ratio (NLR) index were decreased.
Topics: Humans; Neutrophils; Respiratory Burst; Intellectual Disability; Leukocyte Count; Lymphocyte Count; Abnormalities, Multiple; Growth Disorders; Acrocephalosyndactylia; Osteochondrodysplasias; Hypoparathyroidism; Seizures
PubMed: 38485906
DOI: 10.18502/ijaai.v23i1.14959 -
The Journal of Craniofacial Surgery Feb 2024This study seeks to examine the impact of anterior and posterior vault distraction osteogenesis (A-PVDO) in conjunction with 3D-printed positioning and shaping templates...
OBJECTIVE
This study seeks to examine the impact of anterior and posterior vault distraction osteogenesis (A-PVDO) in conjunction with 3D-printed positioning and shaping templates for the management of Apert syndrome.
METHODS
From January 2018 to February 2022, a retrospective analysis was conducted on 6 cases of Apert syndrome employing fronto-orbital 3D-printed positioning and molding templates. The cranium underwent surgical modification in accordance with the template's configuration and was affixed with absorbable plates. Subsequently, distraction devices were applied, encompassing both anterior and posterior craniotomies. The evaluation encompassed clinical outcomes, complications (including cerebrospinal fluid leakage and infection), safety, and the feasibility of the distraction osteogenesis procedure.
RESULTS
Six patients diagnosed with Apert syndrome underwent treatment involving the integration of fronto-orbital 3D-printed positioning and shaping templates in conjunction with anterior and posterior cranial distraction osteoplasty. Follow-up durations ranged from 18 to 32 months (average: 22 mo). No instances of fronto-orbital retraction, cerebrospinal fluid leakage, or intracranial infection were noted during the follow-up period. The sole reported complication entailed an infection at the extension rod site in 1 case. All patients conveyed satisfaction with the treatment outcomes.
CONCLUSIONS
The application of 3D-printed positioning and shaping templates in tandem with anterior and posterior cranial distraction osteogenesis demonstrates efficacy in addressing Apert syndrome. Notably, significant enhancements in head shape and orbit were observed, and the incidence of postoperative complications such as cerebrospinal fluid leakage and infection remained minimal. Moreover, long-term follow-up affirmed stability.
PubMed: 38408331
DOI: 10.1097/SCS.0000000000010070 -
Microsurgery Feb 2024Foot-syndactyly has long been managed through conventional surgical procedures, each having its own distinct advantages and drawbacks. While these methods, which do not...
INTRODUCTION
Foot-syndactyly has long been managed through conventional surgical procedures, each having its own distinct advantages and drawbacks. While these methods, which do not require skin grafts, exhibit a lower incidence of long-term complications, they lead to undesirable scarring on the dorsal side of the foot and reduced patient satisfaction. In this study, we introduce an innovative technique involving an intermetatarsal plantar flap, supported by an anatomical investigation and clinical application.
METHODS
Eight freshly preserved lower limbs were injected with colored latex to examine the cutaneous vessels on the plantar surface, a skin-flap was designed in an elliptical shape to address first web conjoined toes. The flap was extended from the center of each affected ray measuring ~30% of the sole's length. Using the mentioned novel approach, a flap was created and dorsally extended with a straight incision to release bilateral simple foot-syndactyly in an 8-year-old child presented with Apert's Syndrome.
RESULTS
We identified cutaneous branches originating either from the medial plantar vessels or the lateral proper artery of the hallux. On average, the mean number of cutaneous branches found over the first intermetatarsal web spaces was 5.8 (ranging from 5 to 8) most of them originating from medial plantar vessels with a mean of 5.1 branches (range 4-6) while proper lateral great-toe digital artery provided a mean of 0.6 branches (range 0-2). Intra-operatively, in our patient, advancing the plantar flap ensured complete coverage of the commissure, obviating the necessity for skin grafts. Incisions healed uneventfully and a wide first web was obtained. Over a 15 months follow-up, no complications were observed.
CONCLUSIONS
Our findings suggest that the skin-graftless first web release of syndactyly using a plantar intermetatarsal flap is a reliable and straightforward procedure with good cosmetic results, offering a promising alternative to conventional techniques.
LEVEL OF EVIDENCE
Therapeutic IV.
Topics: Child; Humans; Plastic Surgery Procedures; Perforator Flap; Toes; Skin Transplantation; Syndactyly; Treatment Outcome
PubMed: 38363104
DOI: 10.1002/micr.31151 -
Molecular Syndromology Feb 2024Propionic acidemia (PA) is an inborn error of organic acid metabolism inherited in an autosomal recessive manner. The neonatal-onset disease may present with feeding...
INTRODUCTION
Propionic acidemia (PA) is an inborn error of organic acid metabolism inherited in an autosomal recessive manner. The neonatal-onset disease may present with feeding difficulties and vomiting; seizures, coma, and death may occur if untreated. In addition, catabolic processes such as infections and surgical procedures could cause metabolic decompensation, so patients with organic acidemia should be followed closely.
CASE PRESENTATION
Here, a patient diagnosed with PA and Apert syndrome in the neonatal period and the complications caused by the coexistence of the two entities are mentioned. The difficulties precipitated by the coexistence of Apert syndrome and PA make this case unique. She has had prolonged hospitalizations due to metabolic decompensations after cranioplasty and inguinal hernia repair, both triggered by nosocomial respiratory infections, complicating both the surgical treatment of Apert syndrome and the management of PA.
CONCLUSION
Coexistence of these two serious disorders mandates a more prudent clinical management as Apert syndrome patients undergo several surgical procedures, rendering them susceptible to catabolic decompensations.
PubMed: 38357253
DOI: 10.1159/000534380 -
Pediatric Research May 2024Skeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding which syndromes share this... (Meta-Analysis)
Meta-Analysis Review
Skeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding which syndromes share this clinical phenotype. The aims of this study were to: (i) identify the syndromes affected by the SCIII phenotype; (ii) clarify the involvement of maxillary and/or mandibular structures; (iii) explore shared genetic/molecular mechanisms. A two-step strategy was designed: [Step#1] OMIM, MHDD, HPO, GeneReviews and MedGen databases were explored; [Step#2]: Syndromic conditions indexed in [Step#1] were explored in Medline, Pubmed, Scopus, Cochrane Library, WOS and OpenGrey. Eligibility criteria were defined. Individual studies were assessed for risk of bias using the New Ottawa Scale. For quantitative analysis, a meta-analysis was conducted. This scoping review is a hypothesis-generating research. Twenty-two studies met the eligibility criteria. Eight syndromes affected by the SCIII were targeted: Apert syndrome, Crouzon syndrome, achondroplasia, X-linked hypohidrotic ectodermal dysplasia (XLED), tricho-dento-osseous syndrome, cleidocranial dysplasia, Klinefelter and Down syndromes. Despite heterogeneity between studies [p < 0.05], overall effects showed that midface components were affected in Apert and Down Syndromes, lower face in Klinefelter Syndrome and midface and lower face components in XLED. Our review provides new evidence on the craniofacial characteristics of genetically confirmed syndromes exhibiting the SCIII phenotype. Four major regulatory pathways might have a modulatory effect on this phenotype. IMPACT: What does this review add to the existing literature? To date, there is no literature exploring which particular syndromes exhibit mandibular prognathism as a common trait. Through this research, it was possibly to identify the particular syndromes that share the skeletal Class III phenotype (mandibular prognathism) as a common trait highlighting the common genetic and molecular pathways between different syndromes acknowledging their impact in craniofacial development.
Topics: Humans; Craniofacial Abnormalities; Genotype; Malocclusion, Angle Class III; Phenotype; Syndrome
PubMed: 38347173
DOI: 10.1038/s41390-023-02907-5