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The Journal of Hand Surgery Oct 2020Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital...
PURPOSE
Macrodactyly is a rare, nonhereditary congenital deformity. Digital enlargement in macrodactyly involves all tissue types and presents alone or as part of a congenital deformity syndromes. Macrodactyly treatment largely depends on surgeons' experience and knowledge. Because there is a paucity of large cohort studies of macrodactyly in the literature, our goal was to retrospectively analyze macrodactyly cases in order to define a better system for diagnosis, classification, and prognosis.
METHODS
Medical records of 90 Chinese macrodactyly patients, including demographic characteristics, clinical presentations, anatomical distributions, x-rays, pathological findings, and treatments, were reviewed. Genetic analyses of 12 patients were also reviewed.
RESULTS
Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 2.6 times more frequent than single-digit involvement. The index finger, middle finger, and thumb were most commonly involved. Two digits were affected more often than 3, with the affected digits adjacent in most cases. The affected digit was in the median nerve innervation distribution in 79% of cases and was accompanied by enlargement and fat infiltration of the median nerve. Seven cases had syndactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive.
CONCLUSIONS
Macrodactyly represents a heterogeneous group of conditions, without significant sex or geographical predilection, which is usually present at birth. A high PIK3CA mutation-positive rate in affected tissues suggests a similar cellular mechanism for overgrowth in patients with various clinical presentations.
TYPE OF STUDY/LEVEL OF EVIDENCE
Prognostic IV.
Topics: Fingers; Humans; Infant, Newborn; Limb Deformities, Congenital; Retrospective Studies; Syndactyly
PubMed: 32299688
DOI: 10.1016/j.jhsa.2020.03.002 -
Scientific Reports Jan 2020Early fusion of the sagittal suture is a clinical condition called, sagittal craniosynostosis. Calvarial reconstruction is the most common treatment option for this...
Early fusion of the sagittal suture is a clinical condition called, sagittal craniosynostosis. Calvarial reconstruction is the most common treatment option for this condition with a range of techniques being developed by different groups. Computer simulations have a huge potential to predict the calvarial growth and optimise the management of this condition. However, these models need to be validated. The aim of this study was to develop a validated patient-specific finite element model of a sagittal craniosynostosis. Here, the finite element method was used to predict the calvarial morphology of a patient based on its preoperative morphology and the planned surgical techniques. A series of sensitivity tests and hypothetical models were carried out and developed to understand the effect of various input parameters on the result. Sensitivity tests highlighted that the models are sensitive to the choice of input parameter. The hypothetical models highlighted the potential of the approach in testing different reconstruction techniques. The patient-specific model highlighted that a comparable pattern of calvarial morphology to the follow up CT data could be obtained. This study forms the foundation for further studies to use the approach described here to optimise the management of sagittal craniosynostosis.
Topics: Child, Preschool; Computer Simulation; Cranial Sutures; Craniosynostoses; Craniotomy; Finite Element Analysis; Humans; Image Processing, Computer-Assisted; Infant; Infant, Newborn; Longitudinal Studies; Retrospective Studies; Skull; Tomography, X-Ray Computed
PubMed: 31913294
DOI: 10.1038/s41598-019-55224-5 -
BMC Pediatrics Dec 2022Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6 and 7... (Review)
Review
BACKGROUND
Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6 and 7 cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis and vasculogenesis. It is located at chromosome region 3q21-q22, a locus of interest for Möbius syndrome.
CASE PRESENTATION
We present the first report of a patient with Poland-Möbius syndrome and a mutation in the PLXND1 gene. A child with Poland-Möbius syndrome and a maternally inherited missense variant (NM_015103.2:ex14:c.2890G > Ap.V964M) in the PLXND1 gene is described. In order to contextualize these findings, the literature was examined to identify other confirmed cases of Poland-Möbius syndrome for which genetic data were available. Fourteen additional cases of Poland-Möbius syndrome with genetic studies are described in the literature. None implicated the PLXND1 gene which has previously been implicated in isolated Möbius syndrome.
CONCLUSIONS
This report provides further evidence in support of a role for PLXND1 mutations in Möbius syndrome and reasserts the nosological link between Möbius and Poland's syndromes.
LEVEL OF EVIDENCE
Level V, Descriptive Study.
Topics: Child; Humans; Mobius Syndrome; Poland Syndrome; Mutation; Thoracic Wall; Central Nervous System
PubMed: 36581828
DOI: 10.1186/s12887-022-03803-3 -
Scientific Reports Jan 2024Despite the undertaken treatment, children with nonsyndromic sagittal craniosynostosis (NSC) are burdened with problems with speech development, visuospatial and other...
Despite the undertaken treatment, children with nonsyndromic sagittal craniosynostosis (NSC) are burdened with problems with speech development, visuospatial and other cognitive deficits. The electroencephalographic assessment has not influenced the diagnostics and treatment strategy of craniosynostosis so far but the introduction of quantitative EEG (QEEG) protocols renewed an interest in the functional aspect of this disease. In this study we retrospectively assessed the QEEG records of 25 children with NSC aged 1-18 months (mean age 9.62 months) before and after surgery. In each case, the amplitude, interhemispheric (ICoh) and intrahemispheric (HCoh) coherence indices were calculated. Obtained data were compared to age-matched control group of 25 normocephalic children. Children with NSC presented significantly lower values of amplitudes and intrahemispheric coherence in occipital, posterior parietal and posterior temporal regions than normocephalic children. The values of amplitudes, ICoh and HCoh in pre- and postoperative QEEG records mostly remained unchanged, with a slight improvement in HCoh in centro-parietal area. These findings suggest that NSC children present their own QEEG profile. The operative treatment improves an intrahemispheric connectivity, but there still exists a significant difference in the occipitotemporal, frontotemporal and centro-frontal areas, which may be considered as a functional substrate of reported speech and neurocognitive problems. QEEG findings in nonsyndromic sagittal craniosynostosis.
Topics: Child; Humans; Infant; Retrospective Studies; Craniosynostoses; Electroencephalography; Temporal Lobe; Cognition Disorders
PubMed: 38221524
DOI: 10.1038/s41598-024-51858-2 -
International Journal of Biological... 2017Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and... (Review)
Review
Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 () gene is perhaps the most extensively studied gene that is mutated in various craniosynostotic syndromes including Crouzon, Apert, Pfeiffer, Antley-Bixler, Beare-Stevenson cutis gyrata, Jackson-Weiss, Bent Bone Dysplasia, and Seathre-Chotzen-like syndromes. The majority of these mutations are missense mutations that result in constitutive activation of the receptor and downstream molecular pathways. Treatment involves a multidisciplinary approach with ultimate surgical fixation of the cranial deformity to prevent further sequelae. Understanding the molecular mechanisms has allowed for the investigation of different therapeutic agents that can potentially be used to prevent the disorders. Further research efforts are need to better understand screening and effective methods of early intervention and prevention. Herein, the authors provide a comprehensive update on related syndromic craniosynostosis.
Topics: Craniosynostoses; Humans; Receptor, Fibroblast Growth Factor, Type 2; Signal Transduction; Syndrome
PubMed: 29230096
DOI: 10.7150/ijbs.22373 -
Journal of Anatomy Nov 2021Middle meningeal vessels, dural venous sinuses, and emissary veins leave imprints and canals in the endocranium, and thus provide evidence of vascular patterns in...
Middle meningeal vessels, dural venous sinuses, and emissary veins leave imprints and canals in the endocranium, and thus provide evidence of vascular patterns in osteological samples. This paper investigates whether craniovascular morphology undergoes changes in craniosynostotic human skulls, and if specific alterations may reflect structural and functional relationships in the cranium. The analyzed osteological sample consists of adult individuals with craniosynostoses generally associated with dolichocephalic or brachycephalic proportions, and a control sample of anatomically normal adult skulls. The pattern and dominance of the middle meningeal artery, the morphology of the confluence of the sinuses, and the size and number of the emissary foramina were evaluated. Craniovascular morphology was more diverse in craniosynostotic skulls than in anatomically normal skulls. The craniosynostotic skulls often displayed enlarged occipito-marginal sinuses and more numerous emissary foramina. The craniosynostotic skulls associated with more brachycephalic morphology often presented enlarged emissary foramina, while the craniosynostotic skulls associated with dolichocephalic effects frequently displayed more developed posterior branches of the middle meningeal artery. The course and morphology of the middle meningeal vessels, dural venous sinuses, and emissary veins in craniosynostotic skulls can be related to the redistribution of growth forces, higher intracranial pressure, venous hypertension, or thermal constraints. These functional and structural changes are of interest in both anthropology and medicine, involving epigenetic traits that concern the functional and ontogenetic balance between soft and hard tissues.
Topics: Adult; Cranial Sinuses; Craniosynostoses; Head; Humans; Phenotype; Skull
PubMed: 34240418
DOI: 10.1111/joa.13506 -
The Cleft Palate-craniofacial Journal :... Jul 2021Severity of unilateral coronal synostosis (UCS) can vary. Quantification is important for treatment, expectations of treatment and natural outcome, and education of the...
OBJECTIVES
Severity of unilateral coronal synostosis (UCS) can vary. Quantification is important for treatment, expectations of treatment and natural outcome, and education of the patient and parents.
DESIGN
Retrospective study.
SETTING
Primary craniofacial center.
PATIENTS, PARTICIPANTS
Twenty-three preoperative patients with unilateral coronal craniosynostosis (age < 2 years).
INTERVENTION
Utrecht Cranial Shape Quantifier (UCSQ) was used to quantify severity using the variables: asymmetry ratio of frontal peak and ratio of frontal peak gradient.
MAIN OUTCOME MEASURES(S)
The UCSQ variables were combined and related to visual score using Pearson correlation coefficient; UCSQ and visual score were additionally compared to Di Rocco classification by one-way analysis of variance or Kruskal-Wallis test. All measurements were made on computed tomography scans.
RESULTS
Good correlation between UCSQ and visual score was found ( = 0.67). No statistically significant differences were found between group means of UCSQ in the 3 categories of Di Rocco classification ( = 0.047; > .05). Kruskal-Wallis test showed no significant differences between group means of visual score in the 3 categories of Di Rocco classification (Kruskal-Wallis (2) = 0.871; > .05).
CONCLUSIONS
Using UCSQ, we can quantify UCS according to severity using characteristics, it outperforms traditional methods and captures the whole skull shape. In future research, we can apply UCSQ to 3D-photogrammetry due to the utilization of external landmarks.
Topics: Child, Preschool; Cranial Sutures; Craniosynostoses; Humans; Infant; Photogrammetry; Retrospective Studies; Skull; Synostosis; Tomography, X-Ray Computed
PubMed: 33078622
DOI: 10.1177/1055665620965099 -
The Journal of Craniofacial Surgery Sep 2023Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on...
Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of phenotypic criteria for research were independently developed and based on multidisciplinary consensus: the FACIAL and ICHOM criteria. This study aimed to assess the sensitivity of both criteria with an existing global multicenter database of patients with CFM and study the characteristics of patients that do not meet the criteria. A total of 730 patients with CFM from were included. Characteristics of the patients were extracted, and severity was graded using the O.M.E.N.S. and Pruzansky-Kaban classification. The sensitivity of the FACIAL and ICHOM was respectively 99.6% and 94.4%. The Cohen's kappa of 0.38 indicated a fair agreement between both criteria. Patients that did not fulfill the FACIAL criteria had facial asymmetry without additional features. It can be concluded that the FACIAL and ICHOM criteria are accurate criteria to describe patients with CFM. Both criteria could be useful for future studies on CFM to create comparable and reproducible outcomes.
Topics: Humans; Goldenhar Syndrome; Facial Asymmetry; Face; Health Personnel; Patients
PubMed: 37264504
DOI: 10.1097/SCS.0000000000009446 -
Radiologia 2015
Topics: Abnormalities, Multiple; Adolescent; Humans; Kidney; Male; Phenotype; Poland Syndrome; Ultrasonography; Urography
PubMed: 23890705
DOI: 10.1016/j.rx.2013.05.005 -
European Journal of Human Genetics :... Jun 2023In some cases of infants with apparently isolated single-suture synostosis, an underlying variant can be found. We aimed to determine the molecular substratum in...
In some cases of infants with apparently isolated single-suture synostosis, an underlying variant can be found. We aimed to determine the molecular substratum in isolated sagittal and metopic craniosynostosis. To this end, we included all infants who presented isolated midline synostosis (sagittal or metopic) and had undergone surgery at the craniosynostosis national reference center of Lyon University Hospital. All infants were examined by a multidisciplinary team including neurosurgeons, clinical geneticists and neuropsychologist. Among 101 infants tested, 13 carried a total of 13 variants; that is, 12.9% of the infants carried a variant in genes known to be involved in craniosynostosis. Seven infants carried SMAD6 variants, 2 in FGFR2, 1 in TWIST1, one in FREM1, one in ALX4 and one in TCF12. All variants were detected at the heterozygous level in genes associated with autosomal dominant craniosynostosis. Also, neurodevelopmental testing showed especially delayed acquisition of language in children with than without variants in SMAD6. In conclusion, a high percentage of young children with isolated midline craniosynostosis, especially in isolated trigonocephaly, carried SMAD6 variants. The interpretation of the pathogenicity of the genes must take into account incomplete penetrance, usually observed in craniosynostosis. Our results highlight the interest of molecular analysis in the context of isolated sagittal and/or metopic craniosynostosis to enhance an understanding of the pathophysiology of midline craniosynostosis.
Topics: Child; Infant; Humans; Child, Preschool; Craniosynostoses
PubMed: 36732661
DOI: 10.1038/s41431-023-01295-y