-
Maedica Dec 2022Craniosynostosis is a congenital anomaly defined as early ossification of the cranial sutures. It is a rare pathology worldwide, implicitly also in our country, with a...
Craniosynostosis is a congenital anomaly defined as early ossification of the cranial sutures. It is a rare pathology worldwide, implicitly also in our country, with a prevalence of 1:2100-1:2500. However, it represents a condition with potentially severe complications in terms of patient functionality. At the same time, not much research has been done in this field. Thus, it was considered useful to conduct a study on the epidemiology of craniosynostosis in Bihor county. The present study had the following objectives: updating epidemiological data; analysis of the clinical data of the study group; identification of risk factors in the occurrence of the disease; evaluating the prospects for a genetic approach to the disease, including genetic testing and genetic counseling. This is a retrospective cross-sectional study. Data from a cohort of 35 patients were collected using the database which were made available by the Bihor Regional Center for Medical Genetics. Only patients with imaging-confirmed craniosynostosis in the last three decades were included in the study. Most patients were diagnosed in the age range of one month - one year, the mean being 197 days. The most frequently affected suture was the sagittal suture (60%) and the least affected one the metopic suture (5%). Combined lesions were present in three cases. The majority (75%) of cases were isolated craniosynostosis, with the remaining 25% being diagnosed in the context of a genetic syndrome (most frequently Apert syndrome). Throughout the three explored decades, a significant increase in the number of cases was observed. The most commonly affected groups included male patients, those from rural areas, those born after year 2000, especially from 2011 to the present. Most cases were isolated craniosynostosis. Heredo-collateral antecedents were insignificant. Three risk factors were present, including male sex, maternal smoking during pregnancy and advanced parents' ages. Complications of the disease were rare and a minority of patients benefited from surgical treatment. Genetic counseling is an important component of disease prevention and should be offered as soon as possible.
PubMed: 36818258
DOI: 10.26574/maedica.2022.17.4.893 -
Clinical Case Reports Feb 2023Apert syndrome presents similarly to the one we presented in this image, and a genetic study is used for confirmation. This image shows the typical findings of physical...
Apert syndrome presents similarly to the one we presented in this image, and a genetic study is used for confirmation. This image shows the typical findings of physical examination, so that if this appears in the outpatient department, the diagnosis of Apert syndrome should be assumed.
PubMed: 36789310
DOI: 10.1002/ccr3.6941 -
The Journal of Craniofacial Surgery Jun 2023The Upton type III hand, which represents the most severe hand type among Apert syndrome patients, has been considered the least prevalent hand type. The objective of...
BACKGROUND
The Upton type III hand, which represents the most severe hand type among Apert syndrome patients, has been considered the least prevalent hand type. The objective of this study is to address type III Apert hand prevalence and describe treatment strategies that will result in a 5 digit hand.
METHODS
The authors retrospectively reviewed 15 years of Apert syndrome hand practice at our hospital. Demographic (patient sex and age at the time of the operation), surgical (eg, techniques used for webspace release, osteotomy, and various aspects of soft-tissue reconstruction), and outcome (perioperative and long-term complication and need for revision operation) data was verified through medical records, clinical photographs, radiographic images, and interviews with patients' families. Patients who had incomplete medical records and/or postoperative follow up <6 months in length were excluded from this study.
RESULTS
A total of 93 Apert patients [50 male (56.1%) and 43 female (43.9%)] were treated at our hospital from 2007 to 2021. Stratification of Apert hand severity using Upton's classification system identified 34 patients with type I hands (36.4%), 19 patients with type II hands (20.6%), and 40 patients with type III hands (43%). Of the 40 patients with type III hands a 5 digit hand was achieved for 35 patients (87%), with an average of 3.37 operations per patient.
CONCLUSIONS
The Upton type III hand is the most prevalent hand type among Apert syndrome patients. Following a three stage protocol, a surgical team can consistently achieve a 5 digit hand for the majority of Apert syndrome patients with type III hands.
Topics: Humans; Male; Female; Acrocephalosyndactylia; Retrospective Studies; Prevalence; Hand; Fingers
PubMed: 36730868
DOI: 10.1097/SCS.0000000000009107 -
The Journal of Craniofacial Surgery May 2023III.
III.
Topics: Humans; Child; Acrocephalosyndactylia; Skull; Mutation; Tomography, X-Ray Computed; Craniosynostoses
PubMed: 36730527
DOI: 10.1097/SCS.0000000000009126 -
Plastic and Reconstructive Surgery Mar 2023The timing of posterior cranial expansion for the management of intracranial pressure can be "staged" by age and dysmorphology or "expectant" by pressure monitoring. The...
BACKGROUND
The timing of posterior cranial expansion for the management of intracranial pressure can be "staged" by age and dysmorphology or "expectant" by pressure monitoring. The authors report shared outcome measures from one center performing posterior vault remodeling (PCVR) or distraction (PVDO) following a staged approach and another performing spring-assisted expansion (SAPVE) following an expectant protocol.
METHODS
Apert or Crouzon syndrome patients who underwent posterior expansion younger than 2 years were included. Perioperative outcomes and subsequent cranial operations were recorded up to last follow-up and intracranial volume changes measured and adjusted using growth curves.
RESULTS
Thirty-eight patients were included. Following the expectant protocol, Apert patients underwent SAPVE at a younger age (8 months) than Crouzon patients (16 months). The initial surgery time was shorter but total operative time, including device removal, was longer for PVDO (3 hours 52 minutes) and SAPVE (4 hours 34 minutes) than for PCVR (3 hours 24 minutes). Growth-adjusted volume increase was significant and comparable. Fourteen percent of PCVR, 33% of PVDO, and 11% of SAPVE cases had complications, but without long-term deficits. Following the staged approach, 5% underwent only PVDO, 85% had a staged posterior followed by anterior surgery, and 10% required a third expansion. Following the expectant approach, 42% of patients had only posterior expansion at last follow-up, 32% had a secondary cranial surgery, and 26% had a third cranial expansion.
CONCLUSION
Two approaches involving posterior vault expansion in young syndromic patients using three techniques resulted in comparable early volume expansion and complication profiles.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, III.
Topics: Humans; Infant; Craniosynostoses; Skull; Craniofacial Dysostosis; Outcome Assessment, Health Care; Osteogenesis, Distraction
PubMed: 36730425
DOI: 10.1097/PRS.0000000000009925 -
The Journal of Craniofacial Surgery May 2023
Topics: Child; Humans; Infant; Acrocephalosyndactylia; Skull; Mutation; Craniosynostoses
PubMed: 36727961
DOI: 10.1097/SCS.0000000000009173 -
International Journal of Dentistry 2023Individuals with syndromic craniosynostosis present alterations in the dental arches due to anomalies caused by the early fusion of the craniomaxillary sutures. This...
OBJECTIVE
Individuals with syndromic craniosynostosis present alterations in the dental arches due to anomalies caused by the early fusion of the craniomaxillary sutures. This study aimed to compare intradental and interdental dimensions between individuals with Apert and Crouzon syndromes and nonsyndromic controls.
MATERIALS AND METHODS
Digital models were obtained from the archive of a public tertiary care hospital. The sample consisted of 34 patients (Apert = 18, Crouzon = 16) and 34 nonsyndromic controls matched for gender and age. Measurements of perimeter, length, intercanine and intermolar distances (upper and lower), overjet, and molar ratio were performed. Statistical comparisons were performed using ANOVA and Tukey tests ( < 0.05).
RESULTS
Patients with Apert and Crouzon syndromes have severely reduced maxillary transverse dimensions, perimeter, and length of the upper arch compared to the control group ( < 0.001). The lower arch is less impacted. Patients with Apert syndrome had an anterior crossbite ( < 0.001), while patients with Crouzon syndrome had an edge-to-edge bite ( < 0.011). Patients with Apert and Crouzon syndromes do not have serious transverse proportion problems when comparing the upper and lower arches.
CONCLUSIONS
In this sample, both the Apert and Crouzon groups have severely compromised upper arches compared to the control group. Mild dentoalveolar expansion in the maxilla should be sufficient for the transverse adaptation of the dental arches before frontofacial advancement.
PubMed: 36647423
DOI: 10.1155/2023/1043369 -
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 -
In Vivo (Athens, Greece) 2023Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%),... (Review)
Review
Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2,500 births worldwide. In most cases (85%), craniosynostosis is presented as sporadic anomaly (non-syndromic craniosynostosis), while in other cases (15%) as part of syndromes (syndromic craniosynostosis). Patients with syndromic disorder usually have more severe symptoms compared to those with single suture synostosis. Most common syndromes of craniosynostosis include Pfeiffer, Apert, Crouzon, Jackson-Weiss, Muenke and Boston type MSX2-related syndrome. The main gene mutations in craniosynostosis involve FGFR1, FGFR2, FGFR3, TWIST1 and MSX2, which encode key factors influencing cranial bone morphogenesis. The main therapeutic approaches are surgical as discussed in this review, and the type of therapy depends on the graveness of the incident.
Topics: Humans; Craniosynostoses; Skull; Mutation; Syndrome
PubMed: 36593018
DOI: 10.21873/invivo.13052 -
Radiology Case Reports Mar 2023The falcine sinus is a normal embryonic structure that is situated between the 2 layers of the falx cerebri and drains the deep cerebral venous system into the superior...
The falcine sinus is a normal embryonic structure that is situated between the 2 layers of the falx cerebri and drains the deep cerebral venous system into the superior sagittal sinus. It normally involutes after birth and is uncommon in adults. Although it is often an isolated and incidental finding, it can also be associated with a number of other conditions including but not limited to vein of Galen arterial malformations (VGAM), atretic parietal cephaloceles, acrocephalosyndactyly (Apert syndrome), absence of the corpus callosum, absence of the tentorium, osteogenesis imperfecta, or Chiari II malformations. We present a case series of 3 pediatric patients born with a persistent falcine sinus and an associated condition, including a VGAM, an APC, and a sinus thrombosis. The purpose of this article is to highlight the importance of understanding anatomic variations in the cerebral venous system to help aid in the proper diagnosis and treatment of associated pathologies.
PubMed: 36589489
DOI: 10.1016/j.radcr.2022.11.019