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Plastic and Reconstructive Surgery Aug 2022Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have... (Review)
Review
BACKGROUND
Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors.
METHODS
The authors conducted a retrospective chart review of all children with syndromic craniosynostosis treated at a single center.
RESULTS
Of 442 patients with syndromic craniosynostosis, complete ophthalmologic records were available for 253. Although no instances of optic nerve atrophy were noted among those with Saethre-Chotzen or Muenke syndromes, an overall 14.7 percent prevalence was noted among those with Apert (7.8 percent), Crouzon (27.9 percent), and Pfeiffer syndromes (23.1 percent), with initial diagnoses occurring at a mean age of 10 years. The presence of a Chiari malformation was found to significantly correlate with the subsequent diagnosis of optic nerve atrophy (OR, 3.544; p = 0.002); however, the timing of the first cranial vault procedure, presence of a ventriculoperitoneal shunt, degree of brachycephaly, number of vault expansions, and diagnosis of sleep apnea, did not show significant associations.
CONCLUSIONS
A substantial percentage of children with Apert, Crouzon, and Pfeiffer syndromes were found to develop optic nerve atrophy, with a prevalence likely to trend higher with longer follow-up. Chiari malformations were the only significant potential predictor for optic nerve atrophy. With the goal of preventing visual losses, more frequent monitoring for raised intracranial pressure with ophthalmologic evaluations and magnetic resonance imaging measurements of optic nerve sheath diameters should be considered.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, III.
Topics: Acrocephalosyndactylia; Arnold-Chiari Malformation; Atrophy; Child; Craniosynostoses; Humans; Infant; Optic Nerve; Retrospective Studies
PubMed: 35671456
DOI: 10.1097/PRS.0000000000009367 -
Plastic and Reconstructive Surgery Apr 2022The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a...
BACKGROUND
The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a two-staged technique for distraction lengthening of the Apert thumb using a robust cohort of pediatric patients.
METHODS
The authors retrospectively reviewed medical records of pediatric patients with Apert syndrome who underwent thumb distraction lengthening between 1999 and 2019. The technique was two-staged: (1) application of uniplanar distractor and phalangeal osteotomy, followed by (2) distractor removal, bone grafting, and fixation. Clinical records, preoperative and postoperative radiographs, and photographs were reviewed.
RESULTS
Twenty-two patients (41 thumbs) with Apert syndrome were identified and treated (mean age at initial distraction, 11.5 years). A mean distraction gap of 31.3 mm was achieved over a median time of 40.0 days. The mean healing index was 26.3 days per centimeter. The thumbnail complex was lengthened a median length of 3.0 mm. The median follow-up time was 5.0 years, with complications occurring in 36.4 percent (eight out of 22) of patients. A delayed bone union occurred in one patient, and rotational malunion occurred in one patient.
CONCLUSION
Although long-term outcomes data are needed, thumb distraction lengthening following syndactyly release in patients with Apert syndrome is safe and should be considered to augment the overall appearance and functionality of the hand.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
Topics: Acrocephalosyndactylia; Child; Finger Phalanges; Hand; Humans; Osteogenesis, Distraction; Retrospective Studies; Thumb
PubMed: 35157629
DOI: 10.1097/PRS.0000000000008929 -
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 -
Cureus Oct 2023Apert syndrome (AS), also known as type I acrocephalosyndactyly, is a rare congenital condition characterized by craniosynostosis resulting from missense mutations in... (Review)
Review
Apert syndrome (AS), also known as type I acrocephalosyndactyly, is a rare congenital condition characterized by craniosynostosis resulting from missense mutations in the fibroblast growth factor receptor 2 () gene. This comprehensive review delves into AS, covering its clinical manifestations, genetics, diagnosis, medical management, psychosocial considerations, and future research directions. AS presents with distinct features, including a brachycephalic skull, midface hypoplasia, and limb anomalies such as syndactyly. It follows an autosomal dominant inheritance pattern with mutations in the gene. Prenatal diagnosis is possible through advanced imaging techniques and molecular testing. The multidisciplinary approach to AS management involves surgical interventions, orthodontics, and psychological support. Although no curative treatment exists, early interventions can significantly improve function and aesthetics. The quality of life for AS patients is influenced by psychosocial factors, necessitating comprehensive support for both patients and their families. Future research directions include gene therapy, understanding cellular responses to mutations, and addressing genetic heterogeneity. Collaborative efforts are vital to advancing knowledge about AS and its genetic underpinnings. Overall, this review serves as a valuable resource for healthcare professionals, educators, and researchers, contributing to a deeper understanding of AS and facilitating advancements in diagnosis and treatment.
PubMed: 38021759
DOI: 10.7759/cureus.47281 -
Advances and Technical Standards in... 2023Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement... (Review)
Review
Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement techniques. Although surgeons have individual preferences as to which specific procedures should be performed to best treat Apert patients, craniofacial plastic surgeons, working in tandem with pediatric neurosurgeons, can identify and evaluate functional limitations and facial morphologic disproportions, and establish appropriate criteria for effective midface advancement technique indication and selection. The purpose of this review article is to present and discuss our rationale for midface advancement technique selection based upon the most common craniofacial characteristics presented by Apert syndrome patients. The present article also provides a grading system that stratifies as major, moderate, and mild, the effect of each midface advancement technique on the different types of Apert syndrome facial features. Surgeons should take into consideration the maximum effect and benefit of each craniofacial osteotomy and how these procedures will alter the craniofacial skeleton. By understanding the long-term effect of each osteotomy on the most common craniofacial characteristics of Apert syndrome patients, craniofacial plastic surgeons and neurosurgeons will be able to customize the surgical procedures they perform in order to achieve the best possible outcomes.
Topics: Humans; Child; Acrocephalosyndactylia; Retrospective Studies; Osteotomy, Le Fort; Face
PubMed: 37318579
DOI: 10.1007/978-3-031-28202-7_13 -
Oral and Maxillofacial Surgery Clinics... Aug 2022Patients with syndromic craniosynostosis can present with midface hypoplasia, abnormal facial ratios, and obstructive sleep apnea. These symptoms can all be improved... (Review)
Review
Patients with syndromic craniosynostosis can present with midface hypoplasia, abnormal facial ratios, and obstructive sleep apnea. These symptoms can all be improved with midface advancement, but it is essential to evaluate the specific morphologic characteristics of each patient's bony deficiencies before offering subcranial advancement. Midface hypoplasia in Crouzon syndrome is evenly distributed between the central and lateral midface and reliably corrected with Le Fort III distraction. In contrast, the midface hypoplasia in Apert/Pfeiffer syndromes occurs in both an axial and a sagittal plane, with significantly more nasomaxillary hypoplasia compared with the orbitozygomatic deficiency.
Topics: Craniofacial Dysostosis; Craniosynostoses; Face; Humans; Osteogenesis, Distraction; Osteotomy, Le Fort
PubMed: 35787822
DOI: 10.1016/j.coms.2022.01.002 -
Oral and Maxillofacial Surgery Clinics... Aug 2022Patients with syndromic and nonsyndromic synostosis may have end-stage skeletal discrepancies involving the lower midface and mandible, with associated malocclusion.... (Review)
Review
Patients with syndromic and nonsyndromic synostosis may have end-stage skeletal discrepancies involving the lower midface and mandible, with associated malocclusion. While orthognathic surgical procedures in this population can be reliably executed, the surgeon must be aware of the unique morphologic characteristics that accompany the primary diagnoses as well as the technical challenges associated with performing Le Fort I osteotomies in patients who have undergone prior subcranial midface distraction.
Topics: Craniosynostoses; Facial Bones; Humans; Orthognathic Surgery; Orthognathic Surgical Procedures; Osteotomy, Le Fort
PubMed: 35787829
DOI: 10.1016/j.coms.2022.01.003 -
The Journal of Craniofacial Surgery 2020The purpose of this study is to review 10 years of surgical experience in the management of Apert syndrome, focusing on an updated algorithm which includes hand...
BACKGROUND
The purpose of this study is to review 10 years of surgical experience in the management of Apert syndrome, focusing on an updated algorithm which includes hand reconstruction and posterior vault distraction osteogenesis (PVDO). Additionally, the authors compare PVDO, which is currently used, with fronto-orbital advancement (FOA), which was utilized in a previous algorithm.
METHODS
An observational retrospective study was performed on consecutive patients with Apert syndrome who underwent upper and lower limb reconstruction and craniofacial surgery between 2007 and 2017. A modified Clavien-Dindo surgical complication scale was used to stratify complications between PVDO and FOA. Demographic, surgical, and outcome data was also recorded. The blood transfusion rate between PVDO and FOA was also assessed and compared utilizing the Student t test.
RESULTS
The present study included 69 patients with Apert syndrome (34 males and 35 females). Craniofacial surgeries were performed on a total of 38 patients. A total of 210 operations were performed on the respective upper and lower limbs of patients included in this study. A total of 18 patients underwent PVDO (n = 9) and FOA (n = 9). Posterior vault distraction osteogenesis required significantly less transfused blood volume than FOA (P < 0.05). Complication rate and length of hospital stay were similar for each procedure.
CONCLUSION
An updated algorithm to treat Apert patients was implemented. Posterior vault distraction osteogenesis incorporated into an updated algorithm results in a lower blood transfusion rate.
Topics: Acrocephalosyndactylia; Adolescent; Algorithms; Child; Child, Preschool; Female; Humans; Length of Stay; Male; Osteogenesis, Distraction; Plastic Surgery Procedures; Retrospective Studies
PubMed: 31895846
DOI: 10.1097/SCS.0000000000006105 -
Facial Plastic Surgery Clinics of North... Feb 2024This article reviews the most common craniofacial syndromes encountered in clinical practice. Key physical features of each condition are highlighted to aid in accurate... (Review)
Review
This article reviews the most common craniofacial syndromes encountered in clinical practice. Key physical features of each condition are highlighted to aid in accurate recognition and diagnosis. Optimal individualized treatment approaches are discussed.
Topics: Humans; Physical Examination; Syndrome
PubMed: 37981410
DOI: 10.1016/j.fsc.2023.07.002 -
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