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The Pan African Medical Journal 2016Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and marfanoid features, also known as Marfanoid... (Review)
Review
Shprintzen-Goldberg Syndrome is an extremely infrequent disorder of connective tissue, characterized by craniosynostosis and marfanoid features, also known as Marfanoid Craniosynostosis syndrome. The syndrome was first introduced by Sugarman and Vogel' (1981) however, Shprintzen and Goldberg established this as a separate clinical entity in the year 1982. Since then, approximately sixty such cases have been set down in writing in the medical literature. Herein, we present a short review of literature of this rare connective disorder, in order to create awareness about this condition, as the magnitude of this disorder is not measured properly due to the paucity of literature.
Topics: Arachnodactyly; Craniosynostoses; Humans; Marfan Syndrome
PubMed: 27761171
DOI: 10.11604/pamj.2016.23.227.7482 -
Orphanet Journal of Rare Diseases Sep 2022Against the backdrop of the European Directive on patients' rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are...
BACKGROUND
Against the backdrop of the European Directive on patients' rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working together to support patients with rare and/or complex diseases. ERN CRANIO is the ERN for craniofacial anomalies and ear, nose and throat disorders. The aim of this study was to explore ERN CRANIO's patient coverage of craniosynostosis.
METHODS
ERN CRANIO members and applicants were asked to retrospectively report the number of 'new craniosynostosis patients' (isolated and syndromic) seen in 2017. The number of live births per country in 2017 was retrieved from EUROSTAT, the EU's statistical office. The number of new patients reported per country and the number of live births were used to generate country-specific prevalence figures per 10,000 live births. These figures were compared to expected prevalence ranges for craniosynostosis, and syndromic craniosynostosis specifically, defined by recent European studies. The percentage of syndromic craniosynostosis cases per country was also compared to the expected percentage range.
RESULTS
Based on previous studies, the expected prevalence ranges for craniosynostosis and syndromic craniosynostosis specifically were respectively defined as 4.4-7.2 and 0.9-1.6 patients/10,000 live births. For craniosynostosis ('total'; isolated + syndromic), 'new patient' data from the UK and Finland generated prevalence figures within the expected range, and those in France, Spain, Italy, Portugal and Germany are lower than expected. However, when including applicant data, the prevalence figures for France, Spain and Italy become in range. Data from the Netherlands and Sweden generated higher prevalence figures than expected. For France, Finland, Italy and Sweden, there is inconsistency between patient coverage of 'total' and syndromic patients. For France, Germany, Finland and Italy, the percentage of syndromic craniosynostosis was lower than the expected range.
CONCLUSION
ERN CRANIO's coverage of craniosynostosis varies across Europe. Results may be explained by data collection methods, genetic testing policies and/or national healthcare systems. With centre caseload a driving force for quality, additional ERN membership calls may not necessarily ensure sufficient patient coverage for countries with decentralised healthcare systems. Liaison with national health ministries should be encouraged to optimise patient coverage.
Topics: Craniosynostoses; Europe; Germany; Humans; Retrospective Studies; Spain
PubMed: 36056364
DOI: 10.1186/s13023-022-02475-7 -
Eye (London, England) May 2022To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. (Review)
Review
OBJECTIVE
To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes.
METHODS
We conducted a single-centre, retrospective chart review of patients assessed at our unit between October 2000 and May 2017. Our outcome measures were as follows: age at first and last examination, refraction, horizontal ocular alignment, alphabet pattern deviations, anterior segment appearance, fundus examination findings, visual evoked potentials (VEPs) and genetics. The study's primary endpoint was the proportion of children achieving best-corrected visual acuity (BCVA) ≥ 6/12 in the better eye at final visit, as per UK driving standards.
RESULTS
165 patients were included in this study. Breakdown of diagnoses was as follows: Crouzon (n = 60), Apert (n = 57), Pfeiffer (n = 14) and Saethre-Chotzen (n = 34). 98 patients were male. Of 133 patients with full BCVA data available, 76.7% achieved BCVA ≥ 6/12 in the better eye. Of 122 patients, anisometropia >1.00 dioptre sphere (DS) affected 18.9% and astigmatism ≥1.00DS in at least one eye affected 67.2%. Of 246 eyes, 48.4% had oblique astigmatism. Of 165 patients, 60 had exotropia and 12 had esotropia. 48 of 99 patients demonstrated 'V' pattern. On multivariable logistic regression, nystagmus (p = 0.009) and ON involvement (p = 0.001) were associated with decreased vision in the worse eye. Normal VEPs were associated with better BCVA (p = 0.036).
CONCLUSION
There was a high prevalence of amblyogenic factors, however, the majority achieved BCVA ≥ 6/12 in their better eye. Optic neuropathy and nystagmus had the most significant impact on vision. VEPs can help the in overall assessment of visual function.
Topics: Acrocephalosyndactylia; Astigmatism; Child; Craniosynostoses; Evoked Potentials, Visual; Eye Diseases; Female; Humans; Male; Retrospective Studies
PubMed: 33972704
DOI: 10.1038/s41433-021-01458-5 -
European Journal of Cell Biology 2022Cranial sutures are dynamic structures in which stem cell biology, bone formation, and mechanical forces interface, influencing the shape of the skull throughout... (Review)
Review
Cranial sutures are dynamic structures in which stem cell biology, bone formation, and mechanical forces interface, influencing the shape of the skull throughout development and beyond. Over the past decade, there has been significant progress in understanding mesenchymal stromal cell (MSC) differentiation in the context of suture development and genetic control of suture pathologies, such as craniosynostosis. More recently, the mechanosensory function of sutures and the influence of mechanical signals on craniofacial development have come to the forefront. There is currently a gap in understanding of how mechanical signals integrate with MSC differentiation and ossification to ensure appropriate bone development and mediate postnatal growth surrounding sutures. In this review, we discuss the role of mechanosensation in the context of cranial sutures, and how mechanical stimuli are converted to biochemical signals influencing bone growth, suture patency, and fusion through mediation of cell differentiation. We integrate key knowledge from other paradigms where mechanosensation forms a critical component, such as bone remodeling and orthodontic tooth movement. The current state of the field regarding genetic, cellular, and physiological mechanisms of mechanotransduction will be contextualized within suture biology.
Topics: Cell Differentiation; Cranial Sutures; Craniosynostoses; Humans; Mechanotransduction, Cellular; Sutures
PubMed: 35908436
DOI: 10.1016/j.ejcb.2022.151258 -
Turkish Neurosurgery 2017The premature closure of the metopic suture results in metopic synostosis, also known as trigonocephaly. However, there is a group of children who have only a frontal...
AIM
The premature closure of the metopic suture results in metopic synostosis, also known as trigonocephaly. However, there is a group of children who have only a frontal metopic ridge, obvious with inspection and fingertip palpation, without the clinical features of trigonocephaly. This study aims to report a group of children with metopic ridge with a special emphasis on the definition and the diagnostic features.
MATERIAL AND METHODS
Thirty-eight children with a diagnosis of metopic ridge were followed up with clinical examinations and photographs in the pediatric neurosurgery outpatient clinic between January 2010 and November 2015.
RESULTS
Children were between 3 and 30 (mean=14) months of age at diagnosis. Twenty-five (65.8%) of the children were boys and 13 (34.2%) were girls. A midline metopic ridge without fronto-orbital trigonocephalic deformity was the only diagnostic criterion. The parents" concern about the metopic deformity at initial diagnosis was a common feature in every case. Seven (18.4%) of the children had a sibling with either metopic ridge (n=4) or trigonocephaly (n=3). None of the children had worsened or had received surgery in the follow-up period.
CONCLUSION
The metopic ridge is a pathology of the metopic suture and is a concern for parents in the context of craniosynostosis. Radiological investigation and craniosynostosis surgery are unnecessary in children with a metopic ridge.This clinical entity may be considered the mildest form of metopic synostosis.
Topics: Child, Preschool; Cranial Sutures; Craniosynostoses; Female; Follow-Up Studies; Humans; Infant; Male
PubMed: 27476922
DOI: 10.5137/1019-5149.JTN.16886-15.2 -
Scientific Reports Aug 2023Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the...
Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull. In cases in which growth of the brain supersedes available space within the skull, developmental delay or cognitive impairment can occur. A complex interplay of different cell types and multiple signaling pathways are required for correct craniofacial development. In this study, we report on two siblings with craniosynostosis and a homozygous missense pathogenic variant within the IL11RA gene (c.919 T > C; p.W307R). The patients present with craniosynostosis, exophthalmos, delayed tooth eruption, mild platybasia, and a basilar invagination. The p.W307R variant is located within the arginine-tryptophan-zipper within the D3 domain of the IL-11R, a structural element known to be important for the stability of the cytokine receptor. Expression of IL-11R-W307R in cells shows impaired maturation of the IL-11R, no transport to the cell surface and intracellular retention. Accordingly, cells stably expressing IL-11R-W307R do not respond when stimulated with IL-11, arguing for a loss-of-function mutation. In summary, the IL-11R-W307R variant, reported here for the first time to our knowledge, is most likely the causative variant underlying craniosynostosis in these patients.
Topics: Humans; Craniosynostoses; Skull; Head; Brain; Arginine
PubMed: 37596289
DOI: 10.1038/s41598-023-39466-y -
Child's Nervous System : ChNS :... Jul 2020Extended vertex craniectomy in sagittal synostosis (SS) and transposition craniectomy in severe deformational brachycephaly (DB) combined with mosaic-like cranioplasty...
INTRODUCTION
Extended vertex craniectomy in sagittal synostosis (SS) and transposition craniectomy in severe deformational brachycephaly (DB) combined with mosaic-like cranioplasty (M-LC) have been performed in 17 and 24 infants from 2001 to 2003. The hitherto not well-known mechanisms of remodeling and effectiveness of M-LC is assessed by X-ray and anthropometry.
METHODS
Follow-ups included skull radiograms preoperatively and 3 and 15 months postoperatively, which were analyzed by craniometry according to Haas, long-term anthropometry, and clinical follow-up till mean age of 7.6 and 7.4 years. Analysis included the following: time course of cephalic indexes (CI), sizes of distances (breadth, length, height) and modulus, and mean deviation of distances and modulus from the normal age- and sex-dependent values; evaluation of re-ossification of the operative defects covered by M-L C.
RESULTS
CI in SS is normalized in early follow-up with stabilization thereafter; CI of DB is gradually normalized till late follow-up. Remodeling occurs in both disorders by active and passive mechanisms: increased growth of distances with preoperative minus and decreased growth of distances with surplus. The latter mechanism adds more to the postoperative remodeling. M-LC leads to concentric and final complete re-ossification of the defects.
DISCUSSION
Significant remodeling of the skull vault is observed in both disorders by the demonstrated time course and mechanisms. M-LC does not hinder early remodeling and guarantees re-ossification of the defects.
Topics: Craniosynostoses; Craniotomy; Humans; Infant; Osteogenesis; Plastic Surgery Procedures; Retrospective Studies; Skull; Treatment Outcome
PubMed: 32016574
DOI: 10.1007/s00381-020-04511-y -
Journal of Veterinary Internal Medicine May 2022Gastroesophageal reflux and regurgitation occurs in brachycephalic dogs, but objective assessment is lacking.
BACKGROUND
Gastroesophageal reflux and regurgitation occurs in brachycephalic dogs, but objective assessment is lacking.
OBJECTIVES
Quantify reflux in brachycephalic dogs using an esophageal pH probe and determine the association with scored clinical observations.
ANIMALS
Fifty-one brachycephalic dogs.
METHODS
Case review study. Signs of respiratory and gastrointestinal disease severity were graded based on owner assessment. An esophageal pH probe with 2 pH sensors was placed for 18-24 hours in brachycephalic dogs that presented for upper airway assessment. Proximal and distal reflux were indicated by detection of fluid with a pH ≤4. The median reflux per hour, percentage time pH ≤4, number of refluxes ≥5 minutes and longest reflux event for distal and proximal sensors were recorded. Association of preoperative respiratory and gastrointestinal grade, laryngeal collapse grade, and previous airway surgery with the distal percentage time pH ≤4 was examined using 1-way ANOVA.
RESULTS
A total of 43 of 51 dogs (84%; 95% confidence interval 72-92) displayed abnormal reflux with a median (range) distal percentage time pH ≤4 of 6.4 (2.5-36.1). There was no significant association between the distal percentage time pH ≤4 and respiratory grade, gastrointestinal grade, laryngeal collapse grade, or previous upper airway surgery.
CONCLUSIONS AND CLINICAL IMPORTANCE
The occurrence of reflux is not associated with owner-assessed preoperative respiratory and gastrointestinal grade, laryngeal collapse grade, and previous airway surgery. Esophageal pH measurement provides an objective assessment tool before and after surgery.
Topics: Animals; Craniosynostoses; Dog Diseases; Dogs; Gastroesophageal Reflux; Gastrointestinal Diseases; Hydrogen-Ion Concentration; Vomiting
PubMed: 35388526
DOI: 10.1111/jvim.16400 -
The Canadian Veterinary Journal = La... Aug 2017
Topics: Animals; Craniosynostoses; Dog Diseases; Dogs
PubMed: 28761181
DOI: No ID Found -
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