Cases Of Apert Syndrome Research Articles

Early Cranioplasty in an Apert's Syndrome Infant With Occipital Encephalocele.

Apert's syndrome (AS) is a rare congenital malformation characterized by distinctive clinical manifestations such as syndactyly of the extremities and midface retrusion, which set it apart from other syndromes. This condition often presents with craniosynostosis and, less commonly, central nervous system abnormalities like encephalocele. In this report, we present a typical case of Apert syndrome with an occipital encephalocele. The infant had plagio-brachycephaly due to craniosynostosis and required urgent repair of the occipital encephalocele. At 1 month of age, we performed both the encephalocele repair and early cranioplasty for autologous bone grafting. This case underscores the importance of early diagnosis and surgical interventions in Apert's syndrome cases with encephalocele.

Impact of Anterior and Posterior Vault Distraction Osteogenesis (A-PVDO) and 3D-Printed Positioning/Shaping Templates in Apert Syndrome: A Case Series Study.

This study seeks to examine the impact of anterior and posterior vault distraction osteogenesis (A-PVDO) in conjunction with 3D-printed positioning and shaping templates for the management of Apert syndrome. From January 2018 to February 2022, a retrospective analysis was conducted on 6 cases of Apert syndrome employing fronto-orbital 3D-printed positioning and molding templates. The cranium underwent surgical modification in accordance with the template's configuration and was affixed with absorbable plates. Subsequently, distraction devices were applied, encompassing both anterior and posterior craniotomies. The evaluation encompassed clinical outcomes, complications (including cerebrospinal fluid leakage and infection), safety, and the feasibility of the distraction osteogenesis procedure. Six patients diagnosed with Apert syndrome underwent treatment involving the integration of fronto-orbital 3D-printed positioning and shaping templates in conjunction with anterior and posterior cranial distraction osteoplasty. Follow-up durations ranged from 18 to 32 months (average: 22mo). No instances of fronto-orbital retraction, cerebrospinal fluid leakage, or intracranial infection were noted during the follow-up period. The sole reported complication entailed an infection at the extension rod site in 1 case. All patients conveyed satisfaction with the treatment outcomes. The application of 3D-printed positioning and shaping templates in tandem with anterior and posterior cranial distraction osteogenesis demonstrates efficacy in addressing Apert syndrome. Notably, significant enhancements in head shape and orbit were observed, and the incidence of postoperative complications such as cerebrospinal fluid leakage and infection remained minimal. Moreover, long-term follow-up affirmed stability.

Unusual outcome of strabismus surgery in a case of Apert syndrome: A case report

Abstract Apert syndrome (AS) is a form of acrocephalosyndactyly, which is characterized by craniosynostosis, midfacial hypoplasia, and symmetrical syndactyly of the hands and feet. A 3-year-old female with craniosynostosis, high-arched palate, syndactyly, strabismus, and diagnosed as a case of Apert syndrome was brought to the outpatient department. Strabismus evaluation revealed 35 prism diopters of left convergent squint. Magnetic resonance imaging of the brain and orbit revealed hypoplastic extraocular muscles. A plan to carry out a bilateral medial rectus recession was made. However, intraoperatively, normal-sized muscles were found and the plan was modified to carry out only a left eye medial rectus recession of 5.5 mm. The patient was orthophoric postoperatively, indicating the unusual postoperative outcome in such a case. This report aimed to underline the challenges of managing a case of strabismus and the variable postoperative outcomes encountered in a case of Apert syndrome.

Spectrum of ocular manifestations in apert syndrome

Apert syndrome is a congenital type 1 acrocephalosyndactyly characterized by craniosynostosis, dysmorphic facial features and symmetrical syndactyly. There is premature fusion of cranial sutures which leads to restriction of intracranial and orbital space expansion giving characteristic dysmorphic facial appearance. We are reporting two cases of Apert syndrome of different age groups from ophthalmic point of view, and with different sets of ocular manifestation. Of the two cases, the one who presented early had a better visual prognosis. Apert Syndrome has a social stigma and the patients often suffers social and psychological disturbances. Patient counselling, timely management by multidisciplinary approach and regular follow ups are an important aspect which can offer a better quality of life.

Female infant with apert syndrome and high imperforate anus without fistula

Apert syndrome (AS) is a rare type of congenital craniofacial dysmorphic and severe syndactyly of the hands and feet. Fibroblast growth factor receptor (FGFR) gene mutations are suspect to be involved in this anomaly. The distinct features are craniosynostosis-a condition of premature closure of skull's sutures-, midface hypoplasia-an incomplete development of the middle of the face-, and syndactyly-webbed fingers or toes-. The anorectal malformations (ARMs) associations with AS is rare, and the genetic link is highly complex. Only 12.7% of ARMs cases were associated with a syndrome that has a well-known impact on intellectual development, including AS. To our knowledge, this is the first reported case of AS with a high imperforate anus without fistula. • The association of anorectal malformations (ARMs) with AS is rare, and the genetic link is highly complex. • High imperforate anus can be associated with apert syndrome. This is the first reported case of apert syndrome and high imperforate anus.

Surgical Technique for Complex Syndactyly in Apert Syndrome : A Serial Case

Abstract: Complex syndactyly in Apert syndrome, especially complicated with synonychia and synostosis, is a surgical challenge. The incidence of Apert Syndrome is reported to be approximately 1 per 100.000 to 160.000 live births and its incidence in Indonesia is not yet known. It is practically symmetrical causing significant dysfunction and infection if not treated properly. The goals in the treatment are separation of independent digits without disturbing function and growth, creation of a lined commissure, provision of skin cover for the denuded nail edge and exposed bone, and to create aesthetically pleasing individual fingertips with proper nails, nail folds and adequate pulp fullness. Many variations of surgical release of the first web space and of the remaining syndactyly have been described. Various approaches to the bony deformity of the thumb have also been described. All previously described techniques advocate releasing a single side of a digit at any given surgery to maintain the vascularity of that digit. This is due to the unreliability of the vascular branching pattern to the digits. In this serial case, we reported 5 cases of Apert syndrome. We described the clinical findings, incision design, immediate and post-surgery follow ups. The results were uneventful, with satisfying function and aesthetic appearance.

MODERN VIEWS REGARDING THE ETIOPATHOGENESIS, DIAGNOSTIC, TREATMENT AND PREVENTION OF APERT SYNDROME

Relevance. Acrocephalosyndactyly – a group of syndromes of multiple congenital malformations (MCM), the main components of which are acrocephaly and syndactyly. The most common nosological form of this group is Apert syndrome. Given the manifestation of the syndrome at birth and severe congenital defects of the musculoskeletal system, brain, cardiovascular system, and others, this disease is of practical interest to doctors of many specialties.
 Objective: to generalize modern ideas about the pathogenetic mechanisms, diagnostic, treatment, and prevention of Apert syndrome.
 Materials and methods. Clinical case of Apert syndrome. Clinical and genealogical, biochemical, cytogenetic, instrumental methods of examination.
 Results. The paper presents a clinical case of Aper syndrome in a newborn girl with multiple malformations. Modern information on pathogenetic mechanisms, diagnostic, treatment, and prevention of Aper's syndrome is provided.
 Conclusions. Apert syndrome belongs to a group of syndromes of multiple congenital malformations that require the attention of doctors of various specialties. The main clinical manifestations of the disease are quite specific which allows establishing the diagnosis at birth. At the core of Aper's syndrome are mutations in the FGFR2 gene. There is a prenatal diagnostic of the disease. Reconstructive surgical methods of treatment have been developed. Timely comprehensive treatment and rehabilitation allow such patients to adapt to society.

VP32.19: A case of Apert syndrome diagnosed prenatally by means of ultrasonographic findings

VP32.19: A case of Apert syndrome diagnosed prenatally by means of ultrasonographic findings

A Case of Apert Syndrome: Early Detection of Temporal Lobe Abnormalities and Scalp Cyst in Fetal Brain MRI

Introduction: Apert Syndrome is one of the severe forms of craniosynostosis syndromes. Here we present the first case of 20 weeks fetus with temporal lobe abnormalities with a scalp cyst in fetal MRI. Case Presentation: A 34-year-old woman at 19 weeks of pregnancy presented with normal first trimester scan and with acrocephaly, mild ventriculomegaly (10.5 mm), hypertelorism, and mitten glove syndactyly of hands of the fetus in second trimester ultrasound scan. Also a scalp cyst without calvarial bone defect was found. One week later, fetal brain MRI on 1.5 T scanner confirmed 2D ultrasound findings. Also bilateral temporal lobe overconvolution and low set ears were detected by MRI. These imaging features strongly suggested Apert or a related craniosynostosis syndrome. Amniocentesis result revealed the heterozygous FGFR2 gene mutation consistent with Apert syndrome. Conclusions: Fetal MRI and ultrasound are complementary tools for full evaluation of different aspects of a syndromic condition in fetus that is very important for proper genetic testing and counseling.

A Rare Case of Apert Syndrome due to Mutation of FGFR2 Gene (Fibroblast Growth Factor Receptor 2) – A Disorder of Advanced Paternal Age- A Case Report

The effects of advanced maternal age on offsprings have been well studied and the best documented example is Down syndrome. A small group of congenital disorders, called paternal age effect (PAE) disorders include Apert syndrome, Crouzon syndrome, Achondroplasia and Thanatophoric dysplasia are associated with increased paternal age, relative to the general population. One such case of Apert Syndrome has been discussed in this article.

Epidemiologic and Surgical Approach of Cranyosynostosis: A Case of Madagascar and Review of Literature

Introduction: Craniosynostosis is a premature closure of one or more sutures of the skull. She reaches 1 child out of 2100. She is responsible for a psychomotor developmental delay. The objective of this study was to define epidemiology, surgical approach and compare with literature.
 Methods: this was a multicenter retrospective descriptive study performed in hospitalized children operated or not on three neurosurgery centers (CHU-JRA, CENHOSOA and Fianarantsoa), from January 2010 to December 2017. Variables studied: epidemiology, clinical, paraclinical and therapeutic.
 Results: During the targeted period, 52 children had craniosynostosis (4 cases at CENHSOA, 6 at Fianarantsoa and 42 at CHUA-HJRA). There was a clear male predominance with a sex ratio of 2.4. The average age was 13.11 months. Several types of craniosynostosis were reported, the majority of which were dominated by brachycephaly in 40.38% followed by scaphocephalia (21.15%) and 2 cases of Apert Syndrome. The main symptom was delayed psychomotor development (34.46%). A standard radiography of the skull required in 76.92% and a scanner in 15.38% of the cases. The average age at surgery was 13.04 months. The majority of the surgical techniques practiced were a suturotomy, with blood transfusion and the majority of which at the time of the incision.
 Conclusion: Craniosynostosis is a pathology that requires neurosurgical management. Several operative techniques exist but the indication depends on the age and the clinico-radiological aspect of the pathology. The main cause of death is related to intraoperative bleeding.

Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report

BackgroundApert syndrome, Online Mendelian Inheritance in Man number 101200, is a rare genetic condition, with autosomal dominant inheritance, characterized by craniosynostosis, midfacial malformation, and severe symmetrical syndactyly. Apert syndrome is associated with other systemic malformations, including intellectual disability. At least seven mutations in fibroblast growth factor receptor 2 (FGFR2) gene have been found to cause Apert syndrome. Most cases of Apert syndrome are caused by one of the two most frequent mutations located in exon 7 (Ser252Trp or Pro253Arg).Case presentationA 27-year-old Javanese man presented borderline intellectual functioning and striking dysmorphisms. A clinical diagnosis of Apert syndrome was previously made based on these clinical features. Furthermore, POSSUM software was used before molecular analysis and the result showed suspected Apert syndrome with a cut-off point of 14. Molecular genetic analysis of FGFR2, targeting exon 7, was performed by direct sequencing. In this patient, a missense mutation c.755C>G was detected, changing a serine into a tryptophan (p.Ser252Trp).ConclusionWe report the case of an Indonesian man with Apert syndrome with a c.755C>G (p.Ser252Trp) mutation in the FGFR2 gene. Our patient showed similar dysmorphism to previously reported cases, although cleft palate as a typical feature for p.Ser252Trp mutation was not present. In spite of the accessibility of molecular genetic testing in a few parts of the world, the acknowledgement of clinically well-defined syndromes will remain exceptionally imperative in developing countries with a lack of diagnostic facilities.

Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods

The aim of the study was to explore the sonographic findings of fetuses with craniosynostosis and investigate their prognosis. We conducted a 5-year, multicenter retrospective study and collected data on patients with craniosynostosis diagnosed in the perinatal period. Of 41 cases, 30 cases (73%) were syndromic craniosynostosis, eight cases (20%) were non-syndromic craniosynostosis and the other three cases (7%) were secondary craniosynostosis of chromosomal deletion syndromes. The prenatal ultrasound detection rate was 61%. Half of the cases of syndromic craniosynostosis detected during the perinatal period were Pfeiffer syndrome; there were also six cases of Apert syndrome, three cases of Crouzon syndrome and other rare form of syndromic craniosynostosis (Beare-Stevenson syndrome, Saethre-Chotzen syndrome, cranioectodermal dysplasia, and thanatophoric dysplasia). Abnormal shape of the skull was the most common finding leading to prenatal diagnosis of craniosynostosis. Abnormal head biometry, which was the second most frequent finding, was closely correlated with deformation of the cranial shape. Three cases presented with ventriculomegaly and exophthalmos but normal cranial shape and size. The overall survival rate of infants with syndromic craniosynostosis was 79%, while all of the infants with non-syndromic craniosynostosis survived. In conclusion, prenatal diagnosis of craniosynostosis is difficult, especially when dysmorphic change of the fetal cranium is not evident. Abnormal head biometry and ventriculomegaly could potentially be additional markers of fetal craniosynostosis and consequently increase the prenatal detection rate.

Two patients with Apert syndrome with different mutations: the importance of early diagnosis

Apert syndrome is an autosomal dominant craniosynostosis syndrome accompanied by limb anomalies. The fibroblast growth factor receptor 2 (FGFR2) gene is responsible for the disease and two different heterozygous mutations, p.Pro253Arg and p.Ser252Trp, have been defined as responsible in the majority of cases of Apert syndrome. In this case report, two patients with Apert syndrome with two different FGFR2 gene mutations are presented. Case-1, a 4-month-old boy with craniosynostosis and syndactyly was referred to pediatric genetic clinic. The molecular analysis revealed p.Pro253Arg mutation in the FGFR2 gene, which confirmed the diagnosis of Apert syndrome. Case-2, a 16-year-old girl with developmental delay, cleft palate, syndactyly, and craniosynostosis, was also diagnosed as having Apert syndrome. A molecular diagnosis identified a p.Ser252Trp heterozygous mutation in the FGFR2 gene. Case-1 underwent surgery for craniosynostosis at age 10 months and he was developmentally normal during the 2 year follow-up period. As a conclusion, early surgical intervention should be considered in cases of Apert syndrome to prevent intellectual disability.

Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.

The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept developed in vertebrate morphology and evolutionary biology, describes the coordinated variation of functionally and developmentally related traits of organisms. Syndromic craniosynostosis is characterized by distinctive changes in skull morphology and perceptible, though less well studied, changes in brain structure and morphology. Using mouse models for craniosynostosis conditions, our group has precisely defined how unique craniosynostosis causing mutations in fibroblast growth factor receptors affect brain and skull morphology and dysgenesis involving coordinated tissue-specific effects of these mutations. Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. Using linear distances estimated from three-dimensional coordinates of landmarks acquired from dual modality imaging of skull (high resolution micro-computed tomography and magnetic resonance microscopy) of mice at embryonic day 17.5, we confirm variation in brain and skull morphology in Fgfr2cC342Y/+ mice, Fgfr2+/S252W mice, and their unaffected littermates. Mutation-specific variation in neural and cranial tissue notwithstanding, patterns of integration of brain and skull differed only subtly between mice carrying either the FGFR2c C342Y or the FGFR2 S252W mutation and their unaffected littermates. However, statistically significant and substantial differences in morphological integration of brain and skull were revealed between the two mutant mouse models, each maintained on a different strain. Relative to the effects of disease-associated mutations, our results reveal a stronger influence of the background genome on patterns of brain-skull integration and suggest robust genetic, developmental, and evolutionary relationships between neural and skeletal tissues of the head.

Two cases of Apert syndrome

Two cases of Apert syndrome

Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen. Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function.

Apert syndrome with omphalocele: a case report.

Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele.

Apert Syndrome in the Era of Prenatal Diagnosis

ABSTRACT Apert syndrome is a rare autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly. The syndactyly involves both cutaneous and osseous structures of the upper and lower limbs. Apart from skeletal anomalies, affected fetuses may often present central nervous system malformations and various visceral malformations (congenital heart defects, genitourinary anomalies, choanal stenosis, tracheal abnormalities, diaphragmatic hernia and omphalocele). Mental retardation is frequently encountered, as are a large variety of craniofacial and neurocognitive phenotypes. The incidence of Apert syndrome is approximately one in 65,000 newborns, representing 4.5% of all craniosynostosis cases. The first cases of Apert syndrome were diagnosed by ultrasound and fetoscopy in the third trimester of pregnancy. With the introduction of three-dimensional (3D) ultrasonography, identification of fetal changes characteristic of Apert syndrome is possible in the second trimester of pregnancy. Diagnosis confirmation requires fetal DNA analysis by fibroblast growth factor receptor 2 gene amplification (FGFR2) followed by sequencing and digestion with restriction enzymes. Recently, noninvasive prenatal diagnosis was reported using free fetal DNA analysis with cell-free fetal DNA (cffDNA) in maternal plasma by Polymerase Chain Reaction (PCR) assay and enzymatic digestion with restriction enzymes. As the syndrome has rarely been reported in Romania, we present the case of a fetus diagnosed with Apert syndrome in the second trimester of pregnancy. Early ultrasound detection of suggestive signs for this syndrome (craniosynostosis, syndactyly) was followed by confirmation of the diagnosis by prenatal fetal DNA analysis. How to cite this article Stamatian F, Kovacs T, Militaru M, Caracostea G. Apert Syndrome in the Era of Prenatal Diagnosis. Donald School J Ultrasound Obstet Gynecol 2014;8(2):222-225.

Síndrome de Apert. Reporte de caso en odontopediatría

El Síndrome de Apert representa el 5% de todos los síndromes de craneosinostosis y muestra una prevalenciade 1/60 000 nacidos vivos. Es uno de cinco síndromes de craneosinostosis asociados a mutacionessimples en el gen que codifica el receptor 2 para el Factor de Crecimiento de Fibroblastos (FGF-R2),cromosoma 10q26. El propósito de este estudio fue describir un caso del Síndrome de Apert, mostrar elmanejo odontopediátrico y discutir sus características craneofaciales en un niño de 8 años de edad quepresentó craneosinostosis, turribraquicefalia, sindactilia de manos y pies, con múltiples característicasintraorales.