-
The Journal of Hand Surgery, European... May 2024This study evaluated how Apert hand syndactyly presentations and reconstructive techniques influence reconstruction outcomes. All cases at a major paediatric hospital...
UNLABELLED
This study evaluated how Apert hand syndactyly presentations and reconstructive techniques influence reconstruction outcomes. All cases at a major paediatric hospital between 2007 and 2022 were analysed, including 98 web space reconstructions in 17 patients. Overall, 62% of hands developed complications and 15% required revision surgery. Upton hand type was significantly associated with postoperative complication incidence, specifically including range-of-motion deficits, flexion contracture, web creep and revision surgery. More severe syndactylies may benefit from additional measures to reduce complications. Rectangular commissural flaps showed 1.9 times greater complication risk than interdigitating triangular flaps, including 11.2 times greater risk of web creep. Zigzag volar finger flaps showed 1.8 times greater complication risk than straight-line incisions, including 3.8 times greater risk of web creep. Our study showed that interdigitating triangular commissural flaps and straight-line volar finger incisions are preferable to rectangular commissural and zigzag finger flaps in most cases of Apert hand syndactyly to minimize complications.
LEVEL OF EVIDENCE
III.
Topics: Humans; Male; Female; Postoperative Complications; Surgical Flaps; Risk Factors; Infant; Plastic Surgery Procedures; Acrocephalosyndactylia; Child, Preschool; Reoperation; Retrospective Studies; Syndactyly; Child; Range of Motion, Articular
PubMed: 37987676
DOI: 10.1177/17531934231213516 -
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 -
The Cleft Palate-craniofacial Journal :... Nov 2023Apert, Crouzon, and Pfeiffer syndromes are common genetic syndromes related to syndromic craniosynostosis (SC), whereby it is a congenital defect that occurs when the...
INTRODUCTION
Apert, Crouzon, and Pfeiffer syndromes are common genetic syndromes related to syndromic craniosynostosis (SC), whereby it is a congenital defect that occurs when the cranial growth is distorted. Identifying cranial angles associated with these 3 syndromes may assist the surgical team to focus on a specific cranial part during the intervention planning, thus optimizing surgical outcomes and reducing potential morbidity.
OBJECTIVE
The aim of this study is to identify the cranial angles, which are associated with Apert, Crouzon, and Pfeiffer syndromes.
METHODS
The cranial computed tomography scan images of 17 patients with SC and 22 control groups aged 0 to 12 years who were treated in the University Malaya Medical Centre were obtained, while 12 angular measurements were attained using the Mimics software. The angular data were then divided into 2 groups (patients aged 0 to 24 months and >24 months). This work proposes a 95% confidence interval (CI) for angular mean to detect the abnormality in patient's cranial growth for the SC syndromes.
RESULTS
The 95% CI of angular mean for the control group was calculated and used as an indicator to confirm the abnormality in patient's cranial growth that is associated with the 3 syndromes. The results showed that there are different cranial angles associated with these 3 syndromes.
CONCLUSIONS
All cranial angles of the patients with these syndromes lie outside the 95% CI of angular mean of control group, indicating the reliability of the proposed CI in the identification of abnormality in the patient's cranial growth.
Topics: Humans; Reproducibility of Results; Craniosynostoses; Skull; Acrocephalosyndactylia; Craniofacial Dysostosis; Syndrome
PubMed: 35711157
DOI: 10.1177/10556656221107524 -
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 -
Andrology Sep 2023The increase in paternal age and the percentage of births after assisted reproductive technologies (ART) may have consequences on offspring and society's position...
BACKGROUND
The increase in paternal age and the percentage of births after assisted reproductive technologies (ART) may have consequences on offspring and society's position regarding access to ART must be questioned. Most countries recommend limiting ART to men under 60 years. What is the rationale for this threshold?
OBJECTIVE
This systematic review assesses scientific arguments to establish links between paternal age, male fertility, and offspring health.
MATERIAL AND METHODS
Using the PRISMA guidelines, this systematic review of the literature analyzed 111 articles selected after screening PubMed, ScienceDirect, and Web of Science for articles published between January 1, 1995 and December 31, 2021.
RESULTS
A strong correlation was highlighted between advanced paternal age and a decrease of some sperm parameters (semen volume and sperm motility) and infant morbidity (exponentially increased incidence of achondroplasia and Apert syndrome, and more moderately increased incidence of autism and schizophrenia). The impact of paternal age on pregnancy and fetal aneuploidy rates is more controversial. No association was found with spontaneous abortion rates.
DISCUSSION AND CONCLUSION
The scientific parameters should be explained to older parents undergoing ART. And for countries that discuss a limit on paternal age for access to ART, the debate requires consideration of social and ethical arguments.
Topics: Adult; Aged; Female; Humans; Male; Middle Aged; Pregnancy; Fertility; Health Services Accessibility; Infant Health; Paternal Age; Reproductive Techniques, Assisted; Semen Analysis; Treatment Outcome; Infant, Newborn
PubMed: 36640151
DOI: 10.1111/andr.13385 -
Mammalian Genome : Official Journal of... Sep 2023The external ear develops from an organized convergence of ventrally migrating neural crest cells into the first and second branchial arches. Defects in external ear...
The external ear develops from an organized convergence of ventrally migrating neural crest cells into the first and second branchial arches. Defects in external ear position are often symptomatic of complex syndromes such as Apert, Treacher-Collins, and Crouzon Syndrome. The low set ears (Lse) spontaneous mouse mutant is characterized by the dominant inheritance of a ventrally shifted external ear position and an abnormal external auditory meatus (EAM). We identified the causative mutation as a 148 Kb tandem duplication on Chromosome 7, which includes the entire coding sequences of Fgf3 and Fgf4. Duplications of FGF3 and FGF4 occur in 11q duplication syndrome in humans and are associated with craniofacial anomalies, among other features. Intercrosses of Lse-affected mice revealed perinatal lethality in homozygotes, and Lse/Lse embryos display additional phenotypes including polydactyly, abnormal eye morphology, and cleft secondary palate. The duplication results in increased Fgf3 and Fgf4 expression in the branchial arches and additional discrete domains in the developing embryo. This ectopic overexpression resulted in functional FGF signaling, demonstrated by increased Spry2 and Etv5 expression in overlapping domains of the developing arches. Finally, a genetic interaction between Fgf3/4 overexpression and Twist1, a regulator of skull suture development, resulted in perinatal lethality, cleft palate, and polydactyly in compound heterozygotes. These data indicate a role for Fgf3 and Fgf4 in external ear and palate development and provide a novel mouse model for further interrogation of the biological consequences of human FGF3/4 duplication.
Topics: Animals; Mice; Humans; Fibroblast Growth Factors; Mutation; Disease Models, Animal; Polydactyly; Fibroblast Growth Factor 3
PubMed: 37341808
DOI: 10.1007/s00335-023-09999-8 -
Personalized Medicine Nov 2023Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the...
Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases. A total of 13 single-gene fetuses were confirmed, including Noonan and Costello syndromes, thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta and Apert syndrome. Two novel variants seen were tuberous sclerosis complex ( c.4154G>A) and Alagille syndrome ( c.3452del). NIPT-SGG and standard tests agree on the results for 13 fetuses with monogenic disorders. This panel method of screening can benefit high-risk Vietnamese pregnancies, but further research is encouraged to expand on the causative gene panel.
Topics: Pregnancy; Female; Humans; Vietnam; Prenatal Diagnosis; Thanatophoric Dysplasia; Receptor, Fibroblast Growth Factor, Type 3
PubMed: 37937420
DOI: 10.2217/pme-2023-0105 -
Shoulder & Elbow Apr 2024Apert syndrome, first described in the literature by a French pediatrician Eugene Apert, is a rare congenital form of acrocephalodactyly with autosomal dominant...
Apert syndrome, first described in the literature by a French pediatrician Eugene Apert, is a rare congenital form of acrocephalodactyly with autosomal dominant inheritance. Classically, this syndrome is characterized by craniosynostosis, midface hypoplasia, and symmetrical syndactyly of hands and feet resulting from embryonic anomalies during the third week of gestation. It is also associated with a variety of abnormalities of the viscera, involving the neurological, genitourinary, and cardiorespiratory systems. Glenohumeral manifestations of Apert syndrome include glenoid dysplasia, an oblong humeral head with a prominence of the greater tuberosity, acromial prominence, and inferior subluxation of the glenohumeral joint. This pathological anatomy results in progressive degenerative changes, synchondrosis, and restriction in shoulder joint mobility, particularly in flexion and abduction. While surgical options for the accompanying deformities of the feet and spine are described, interventions for shoulder pathology are not well-defined. Joint replacement surgery could offer such patients pain relief and improved function. Reverse total shoulder arthroplasty is yet to be described in Apert syndrome and this case report presents the outcome in a 48-year-old male. : IV case report.
PubMed: 38655411
DOI: 10.1177/17585732231207365 -
Plastic and Reconstructive Surgery Sep 2023Crouzon syndrome is characterized by complex craniosynostosis and midfacial hypoplasia. Where frontofacial monobloc advancement (FFMBA) is indicated, the method of...
BACKGROUND
Crouzon syndrome is characterized by complex craniosynostosis and midfacial hypoplasia. Where frontofacial monobloc advancement (FFMBA) is indicated, the method of distraction used to achieve advancement holds an element of equipoise. This two-center retrospective cohort study quantifies the movements produced by internal or external distraction methods used for FFMBA. Using shape analysis, this study evaluates whether the different distraction forces cause plastic deformity of the frontofacial segment, producing distinct morphologic outcomes.
METHODS
Patients with Crouzon syndrome who underwent FFMBA with internal distraction [Hôpital Necker-Enfants Malades (Paris, France)] or external distraction [Great Ormond Street Hospital for Children (London, United Kingdom)] were compared. Digital Imaging and Communications in Medicine files of preoperative and postoperative computed tomographic scans were converted to three-dimensional bone meshes and skeletal movements were assessed using nonrigid iterative closest point registration. Displacements were visualized using color maps and statistical analysis of the vectors was undertaken.
RESULTS
Fifty-one patients met the strict inclusion criteria. Twenty-five underwent FFMBA with external distraction and 26 with internal distraction. External distraction provides a preferential midfacial advancement, whereas internal distractors produce a more positive movement at the lateral orbital rim. This confers good orbital protection but does not advance the central midface to the same extent. Vector analysis confirmed this to be statistically significant ( P < 0.01).
CONCLUSIONS
Morphologic changes resulting from monobloc surgery differ depending on the distraction technique used. Although the relative merits of internal and external distraction still stand, it may be that external distraction is more suited to addressing the midfacial biconcavity seen in syndromic craniosynostosis.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, III.
Topics: Child; Humans; Retrospective Studies; Osteogenesis, Distraction; Facial Bones; Craniofacial Dysostosis; Craniosynostoses; Acrocephalosyndactylia
PubMed: 36847681
DOI: 10.1097/PRS.0000000000010331 -
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