-
The Journal of Craniofacial SurgeryCraniosynostosis syndromes, including Apert Syndrome, Pfeiffer Syndrome, and Crouzon Syndrome, share similar phenotypes, including bicoronal craniosynostosis, midface...
Craniosynostosis syndromes, including Apert Syndrome, Pfeiffer Syndrome, and Crouzon Syndrome, share similar phenotypes, including bicoronal craniosynostosis, midface hypoplasia, hypertelorism, and exorbitism. The standard surgical treatment for these craniofacial abnormalities is monobloc osteotomy with distraction osteogenesis. Complications of this technique include the failure of osteogenesis or resorption of the frontal bone. The authors propose an alternative surgical technique with a frontal arch in continuity with the midface segment to ensure vascularization to anterior and posterior borders of distraction. A case report of an 8-year-old female patient with Apert Syndrome is reported using our technique. Our frontal arch monobloc distraction procedure preserves blood supply to a cranial component of the monobloc segment site that becomes the anterior portion of distraction rather than with the traditional devascularized frontal bone flap. This technique modification should improve osteogenesis outcomes by preventing resorption or failure of bone formation.
Topics: Acrocephalosyndactylia; Craniofacial Dysostosis; Craniosynostoses; Female; Follow-Up Studies; Humans; Osteogenesis, Distraction
PubMed: 35758432
DOI: 10.1097/SCS.0000000000008563 -
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 -
[Zhonghua Yan Ke Za Zhi] Chinese... Jun 2022A 29-month-old male child with FGFR2 heterozygous missense mutation at birth was diagnosed as Pfeiffer syndrome. He was treating for binocular exophthalmos and exposed...
A 29-month-old male child with FGFR2 heterozygous missense mutation at birth was diagnosed as Pfeiffer syndrome. He was treating for binocular exophthalmos and exposed keratitis in Beijing Tongren Hospital Affiliated to Capital Medical University. The child had skull fusion (clover head), obvious exophthalmos, deformity of fingers and toes, ankylosis of elbow joint or bony fusion, accompanied by neurological complications and growth retardation; FGFR2 (NM_001144916) gene c.679T>G (thymine>guanine) and p.c227gG(cysteine>glycine) heterozygous missense mutations were found in the the child, and his parents did not carry the same mutation. Pfeiffer syndrome type Ⅱ was diagnosed. Permanent adhesion of eyelid margin was performed under general anesthesia, and the postoperative condition was stable.
Topics: Acrocephalosyndactylia; Child; Child, Preschool; Exophthalmos; Humans; Infant, Newborn; Male; Mutation; Mutation, Missense; Receptor, Fibroblast Growth Factor, Type 2
PubMed: 35692028
DOI: 10.3760/cma.j.cn112142-20220226-00077 -
Handchirurgie, Mikrochirurgie,... Jun 2022Diagnosis and therapy of the Apert foot are scarcely described in extant literature. This article describes anatomical changes observed in 30 Apert feet. By analysis...
Diagnosis and therapy of the Apert foot are scarcely described in extant literature. This article describes anatomical changes observed in 30 Apert feet. By analysis of X-rays and computed scans 5 types of bony Apert foot malformations were identified. We developed therapeutic recommendations based on this classification.
Topics: Acrocephalosyndactylia; Humans; Radiography
PubMed: 35688427
DOI: 10.1055/a-1840-2760 -
Handchirurgie, Mikrochirurgie,... Jun 2022The necessity for early surgical correction of Apert hands for the overall child development has been highlighted repeatedly in older literature. Nevertheless,... (Review)
Review
The necessity for early surgical correction of Apert hands for the overall child development has been highlighted repeatedly in older literature. Nevertheless, uncertainties regarding the time and the scale of the initial surgical treatment still remain. While in former times there were no regular follow-ups after the syndactyly release, we now know that during growth bony changes will develop in the Apert hand requiring regular check-ups and, in some cases, revision surgeries. Affected parents need comprehensive clarification about a clear and time-efficient therapeutic concept. This review article describes our actual concept treating Apert hands.
Topics: Acrocephalosyndactylia; Aged; Child; Hand; Hand Deformities, Congenital; Humans; Reoperation; Syndactyly
PubMed: 35688426
DOI: 10.1055/a-1839-6362 -
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 -
Developmental Dynamics : An Official... Oct 2022Major cell-to-cell signaling pathways, such as the fibroblast growth factors and their four receptors (FGF/FGFR), are conserved across a variety of animal forms....
BACKGROUND
Major cell-to-cell signaling pathways, such as the fibroblast growth factors and their four receptors (FGF/FGFR), are conserved across a variety of animal forms. FGF/FGFRs are necessary to produce several "vertebrate-specific" structures, including the vertebrate head. Here, we examine the effects of the FGFR2 S252W mutation associated with Apert syndrome on patterns of cranial integration. Our data comprise micro-computed tomography images of newborn mouse skulls, bred to express the Fgfr2 S252W mutation exclusively in either neural crest or mesoderm-derived tissues, and mice that express the Fgfr2 S252W mutation ubiquitously.
RESULTS
Procrustes-based methods and partial least squares analysis were used to analyze craniofacial integration patterns. We found that deviations in the direction and degree of integrated shape change across the mouse models used in our study were potentially driven by the modular variation generated by differing expression of the Fgfr2 mutation in cranial tissues.
CONCLUSIONS
Our overall results demonstrate that covariation patterns can be biased by the spatial distribution and magnitude of variation produced by underlying developmental-genetic mechanisms that often impact the phenotype in disproportionate ways.
Topics: Acrocephalosyndactylia; Animals; Disease Models, Animal; Fibroblast Growth Factors; Mice; Mutation; Receptor, Fibroblast Growth Factor, Type 2; Skull; X-Ray Microtomography
PubMed: 35582939
DOI: 10.1002/dvdy.498 -
Congenital Anomalies Jul 2022Patients with Apert syndrome or Crouzon syndrome present with severe defects in oral-maxillofacial growth and development. In this study, we conducted a quantitative...
Patients with Apert syndrome or Crouzon syndrome present with severe defects in oral-maxillofacial growth and development. In this study, we conducted a quantitative three-dimensional (3D) analysis of the palatal morphology of patients with Apert syndrome and Crouzon syndrome. Four patients with Apert syndrome (average age, 11.0 ± 0.8 years) and five with Crouzon syndrome (average age, 10.1 ± 1.6 years) were investigated. The participants' maxillary dental casts were scanned and analyzed using 3D imaging. Palatal width, depth, cross-sectional area, and palatal angle (PW, PD, PCA, and PA, respectively) were measured, and standard scores were calculated based on sex- and age-matched Japanese standard values; the actual palatal surface areas (PSA) and palatal volumes (PV) were also measured. Our results show that patients with Apert syndrome and Crouzon syndrome had a very narrow PW (standard score: -3.79 and - 0.47, respectively). 3D analysis revealed that patients with Apert syndrome had a significantly shallower PD (standard score: -1.35) than those with Crouzon syndrome (standard score: 2.47), resulting in a smaller PCA (standard score: -5.13), PSA (5.49 cm ), and PV (1.11 cm ) and larger PA (standard score: -0.12) than those in patients with Crouzon syndrome. This might be due to the former having a narrower and shallower palate caused by the predominant swelling of the palatal mucosa. These findings improve our understanding of the differences in palatal morphology between Apert syndrome and Crouzon syndrome patients.
Topics: Acrocephalosyndactylia; Child; Craniofacial Dysostosis; Humans; Palate
PubMed: 35468239
DOI: 10.1111/cga.12470 -
Journal of Pediatric Orthopedics. Part B Sep 2022A short thumb with radial angulation causes loss of hand function in patients with Apert syndrome. Although past reports have described various procedures for the...
A short thumb with radial angulation causes loss of hand function in patients with Apert syndrome. Although past reports have described various procedures for the correction of the thumb, there has been no consensus on the best procedure. This study aimed to assess the clinical and radiographic results of a surgical technique for the correction of a thumb radial angulation deformity: open-wedge osteotomy using a bone-graft substitute. Ten patients (18 thumbs) who underwent open-wedge osteotomy on the proximal phalange using a bone-graft substitute were evaluated retrospectively. The open-wedge osteotomies had been performed at the center of the proximal phalanx. Thumb radial angles and thumb lengths were measured on radiographs, and the clinical results were investigated, including bone union and complications. The median patient age at the time of surgery was 5.8 years, and the average follow-up period was 6.7 years. The average thumb radial angle was 57.3° preoperatively, 6.5° immediately postoperatively, and 19.8° at the most recent follow-up. The average thumb length was 12.1 mm preoperatively, 18.1 mm immediately postoperatively, and 22.3 mm at the most recent follow-up, indicating an extension effect of more than 50% immediately postoperatively. In all cases, the artificial bone had been absorbed and developed into autologous bone, and there were no complications such as infection and skin necrosis. These findings suggest that open-wedge osteotomy with an artificial bone substitute is simple and effective for treating radial-angulation deformities in patients with Apert syndrome. Level of evidence: Level IV - retrospective case series.
Topics: Acrocephalosyndactylia; Bone Substitutes; Hand Deformities; Humans; Osteotomy; Retrospective Studies; Thumb
PubMed: 35438886
DOI: 10.1097/BPB.0000000000000938 -
The Journal of Craniofacial SurgeryApert syndrome is a genetic disorder characterized by craniofacial abnormalities and premature closure of the coronal sutures. The restriction of cranial development may...
BACKGROUND
Apert syndrome is a genetic disorder characterized by craniofacial abnormalities and premature closure of the coronal sutures. The restriction of cranial development may have a subsequent effect on paranasal anatomy development.
AIM
The aim of the study was to gain an understanding of paranasal sinus anatomical variations seen in children with Apert syndrome.
MATERIALS AND METHODS
This was a retrospective review of computed tomography and magnetic resonance images of children with Apert syndrome from 2000 to 2020. Images were reviewed to identify anatomical variations in paranasal sinus anatomy.
RESULTS
Twenty-one patients were included in the study. The most commonly seen variation was septal deviation in 86% of cases, with 60% of patients having a septal defect. The presence of protrusion or dehiscence of the infraorbital nerve, carotid canal and Vidian nerve, and presence of a concha bullosa were not observed in any patients. Keros type I was the most commonly observed olfactory fossa depth in 79% of patients, and type I Kuhn cells were observed in 83% of patients.
CONCLUSIONS
To our knowledge, this is the first study which describes the prevalence of variations in paranasal sinus anatomy found in children with Apert syndrome. Septal deviation, type I Kuhn cells and Keros type I olfactory fossa depth were observed in a higher prevalence in our cohort than in the general population. As such, assessment for the presence of chronic rhinosinusitis and nasal obstruction should be evaluated as part of the multidisciplinary assessment.
Topics: Acrocephalosyndactylia; Child; Humans; Nasal Septum; Nose Deformities, Acquired; Paranasal Sinuses; Retrospective Studies; Sinusitis
PubMed: 35385231
DOI: 10.1097/SCS.0000000000008248