Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

INTRODUCTION: Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The syndrome has been divided into three clinical subtypes based on clinical findings. METHODS: This review will specifically examine the most severe type, Pfeiffer syndrome type 2, focusing on its genetics and molecular biology. CONCLUSION: This subtype of the syndrome is caused by de novo sporadic mutations, the majority of which occur in the fibroblast growth factor receptor type 1 and 2 (FGFR1/2) genes. There is not one specific mutation, however. This disorder is genetically heterogeneous and may have varying phenotypic expressions that in various cases have overlapped with other similar craniosynostoses. A specific missense mutation of FGFR2 causing both Pfeiffer and Crouzon syndromes has been identified, with findings suggesting that gene expression may be affected by polymorphism within the same gene. Compared to other craniosynostosis-related disorders, Pfeiffer syndrome is the most extreme phenotype, as the underlying mutations cause wider effects on the secondary and tertiary protein structures and exhibit harsher clinical findings.

Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.

INTRODUCTION: Pfeiffer syndrome is a rare autosomal dominant inherited disorder associated with craniosynostosis, midfacial hypoplasia, and broad thumbs and toes. The syndrome has been divided into three clinical subtypes based on clinical findings. METHODS: This review will specifically examine the most severe type, Pfeiffer syndrome type 2, focusing on its genetics and molecular biology. CONCLUSION: This subtype of the syndrome is caused by de novo sporadic mutations, the majority of which occur in the fibroblast growth factor receptor type 1 and 2 (FGFR1/2) genes. There is not one specific mutation, however. This disorder is genetically heterogeneous and may have varying phenotypic expressions that in various cases have overlapped with other similar craniosynostoses. A specific missense mutation of FGFR2 causing both Pfeiffer and Crouzon syndromes has been identified, with findings suggesting that gene expression may be affected by polymorphism within the same gene. Compared to other craniosynostosis-related disorders, Pfeiffer syndrome is the most extreme phenotype, as the underlying mutations cause wider effects on the secondary and tertiary protein structures and exhibit harsher clinical findings.

Minimally Invasive Hallux Interphalangeal Joint Arthrodesis for Hallux Varus in Pfeiffer Syndrome: A Case Report.

Pfeiffer syndrome is a rare hereditary condition with an autosomal dominant transmission caused by a mutation that affects fibroblast growth factor receptors. It is one of the acrocephalosyndactyly diseases causing cranial malformations owing to early suture fusion. In the foot, it is typically associated with hallux varus, first ray hyperplasia, and partial lesser digit syndactyly. We report a clinical case of a 10-year-old patient with Pfeiffer type I syndrome with bilateral severe hallux varus due to a hypoplastic trapezoidal shaped proximal phalanx, a distal, medial-facing articular surface, and interphalangeal instability. This deformity was addressed by minimally invasive hallux interphalangeal joint arthrodesis with internal and external fixation. We report the results at the 2-year follow-up point.

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.

Syndromic Craniosynostosis: Cranial Vault Expansion in Infancy.

Syndromic craniosynostosis (CS) represents a relatively uncommon disease process that poses significant reconstructive challenges for the craniofacial surgeon. Although there is considerable overlap in clinical features associated with various forms of syndromic CS, key extracranial features and close examination of the extremities help to distinguish the subtypes. While Virchow's law can easily guide the diagnosis of single suture, nonsyndromic CS, syndromic CS traditionally results in atypical presentations inherent to multiple suture fusion. Coronal ring involvement in isolation or associated with additional suture fusion is the most common pattern in syndromic CS often resulting in turribrachycephaly.

Pfeiffer syndrome in an adult with previous surgical correction: A case report of CT findings.

Pfeiffer syndrome, affecting roughly 1 in 100,000 individuals is characterized by acrocephalosyndactyly - the premature closure of skull sutures (craniosynostosis). These acrocephalosyndactyly syndromes which are often sporadic de novo but also autosomal dominant in inheritance can be characterized by the fact that they often involve FGFR and TWIST genes. In the presented case, a 27-year old male level three trauma admission displayed skull abnormalities on physical examination that history taking confirmed was the result of pediatric surgically corrected Pfeiffer syndrome. Noncontrast brain CT as part of his trauma work-up revealed characteristic Pfeiffer syndrome imaging pattern of midface hypoplasia, nonvisualization of coronal and sagittal sutures, and a degree of obstructive hydrocephalus. Pfeiffer syndrome requires extensive pediatric surgery often with poor adult follow up. The case presented provides good visualization of characteristic skull abnormalities in a surgically corrected adult. By virtue of imaging an adult, this provides readers with a unique look at the long-term viability and the body's resulting physiological adaptations of the extensive mandatory pediatric surgery these patients undergo.

Kleeblattschädel in Pfeiffer syndrome type II.

Pfeiffer syndrome is an uncommon autosomal dominant disorder that results in craniosynostosis of multiple calvarial sutures with resulting abnormal facies and turribrachycephaly. Presented here is a case of Pfeiffer syndrome type II demonstrating a cloverleaf skull configuration and multiple facial and skull base abnormalities characteristic of the disorder. The constellation of findings consistent with Pfeiffer syndrome type II described here provides imaging depictions helpful to the radiologist who may be able to suggest genetic testing for this disorder.

Apert's syndrome: A rare craniofacial disorder.

Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. We report a case of 13-year-old boy in India presenting features of AS such as exophthalmos, hypertelorism, strabismus, steep forehead, parrot beak nose, depressed nasal bridge, and retruded middle third of the face. The purpose of this report is to present a case of AS by highlighting the craniofacial characteristics.

Apert syndrome: Diagnostic and management problems in a resource-limited country.

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn't reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects.

Unilateral Coronal Craniosynostosis in an Apert-Like Patient.

BACKGROUND AND SIGNIFICANCE: Apert syndrome is a congenital disorder of patients who typically present with bilateral coronal craniosynostosis and varying degrees of complex syndactyly of the hands and feet, among other features. We describe a unique presentation of a rare Apert-like patient with unilateral coronal craniosynostosis and complex syndactyly of the hands and feet. CASE REPORT: A 2-year-old male patient presented to the craniofacial clinic with his mother due to a concerning head shape. The patient also had bilateral syndactyly of the hands and feet and underwent prior surgical release of the third web space. Computerized tomography of the head illustrated a small open anterior fontanelle, a left harlequin orbit, complete left coronal craniosynostosis, and a patent right coronal suture. The patient subsequently underwent fronto-orbital advancement for expansion of the cranial vault and correction of the asymmetric forehead and orbit. The procedure resulted in improvement of his deformity. CONCLUSION: This case illustrates a unique presentation of an acrocephalosyndactyly (ACS) syndrome with asymmetric, unilateral coronal craniosynostosis and complete complex syndactyly of the hands and feet that is most consistent with Apert syndrome. Although the majority of patients with ACS can be categorized into known syndromes, other more unusual presentations must still be considered. Such unique cases are exceedingly rare and only through additional reporting and review of unique phenotypes can new subtypes of common ACS syndromes be classified.

HISTORIQUE ET SIGNIFICATION: Le syndrome d'Apert est un trouble congénital chez les patients qui, entre autres, ont généralement une craniosynostose coronale bilatérale et divers degrés de syndactylie complexe des mains et des pieds. Les auteurs décrivent la présentation unique d'un patient ayant un rare pseudosyndrome d'Apert qui se manifestait par une craniosynostose coronale unilatérale et une syndactylie complexe des mains et des pieds. RAPPORT DE CAS: Un garçon de deux ans a consulté à la clinique craniofaciale en compagnie de sa mère parce que la forme de sa tête était préoccupante. Il présentait également une syndactylie bilatérale des mains et des pieds et avait déjà subi une libération du troisième espace interdigital. La tomodensitométrie de la tête a révélé une petite fontanelle antérieure ouverte, un œil gauche méphistophélique, une craniosynostose coronale gauche complète et une suture coronale droite ouverte. Le patient a ensuite subi un avancement fronto-orbitaire pour élargir la voûte crânienne et corriger le front asymétrique et l'orbite. L'intervention a atténué ses malformations. CONCLUSION: Ce cas démontre une présentation unique de syndrome d'acrocéphalosyndactylie (ACS) avec craniosynostose coronale unilatérale asymétrique et syndactylie complexe complète des mains et des pieds très évocatrices d'un syndrome d'Apert. Même si la majorité des patients ayant une ACS peuvent être classés dans des syndromes connus, il faut tout de même envisager d'autres présentations plus inhabituelles. Ces cas uniques sont d'une extrême rareté, et ce n'est que par de nouveaux signalements et par l'analyse de phénotypes uniques qu'on pourra classer de nouveaux sous-types de syndromes d'ACS courants.

Manejo odontológico de una paciente con síndrome de Apert / Dental management of a patient with Apert syndrome

El síndrome de Apert, marcado por la acrocéfalo-sindactilia, es una condición genética que genera deformidades dentofaciales incluyendo craneosinostosis, alteraciones faciales y malformaciones en extremidades. La mutación en el gen FGFR2, ya sea heredada o resultante de mutaciones esporádicas, desencadena esta compleja condición. La relevancia de abordar el síndrome de Apert se manifiesta no sólo en las implicaciones estéticas, sino también en su impacto en la salud oral. Romper con los paradigmas odontológicos actuales implica reconocer las particularidades de estos pacientes y proporcionar una atención especializada. La necesidad de una capacitación específica para los profesionales de la salud oral es evidente, permitiendo un enfoque integral que aborde la prevención y el tratamiento de las malformaciones craneofaciales asociadas. Superar los desafíos tradicionales implica adoptar una perspectiva inclusiva y personalizada en la atención odontológica. Esto no sólo mejora la calidad de vida de los pacientes con síndrome de Apert, sino que también destaca la importancia de una atención adaptada que trascienda los límites convencionales, ofreciendo soluciones innovadoras para las complejidades bucodentales asociadas a esta condición genética (AU)

Apert syndrome, marked by acrocephalosyndactyly, is a genetic condition that generates dentofacial deformities, including craniosynostosis, facial alterations and limb malformations. Mutation in the FGFR2 gene, whether inherited or resulting from sporadic mutations, triggers this complex condition. The relevance of addressing Apert syndrome is manifested not only in the aesthetic implications, but also in its impact on oral health. Breaking with current dental paradigms involves recognizing the particularities of these patients and providing specialized care. The need for specific training for dental health professionals is evident, allowing a comprehensive approach that addresses the prevention and treatment of associated craniofacial malformations. Overcoming traditional challenges means taking an inclusive and personalized perspective on dental care. This not only improves the quality of life of patients with Apert syndrome, but also highlights the importance of tailored care that transcends conventional boundaries, offering innovative solutions for the oral complexities associated with this genetic conditio (AU)

Saethre-Chotzen syndrome: Case report and literature review.

Saethre-Chotzen syndrome (SCS) belongs to a group of rare congenital disorders connected with craniosynostosis and syndactyly. The purpose of this paper is to provide a review of the literature, to collect all reported symptoms and to describe the case of an 11-year-old female with SCS. The electronic databases PubMed and Scopus were searched to gain all symptoms of SCS described in the literature. The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism. Less common symptoms include hearing loss, renal abnormalities and cardiac defects. Intraoral manifestations of SCS include maxillary hypoplasia, mandibular prognathism and high arched palate. Moreover, in some patients mental disability is observed, which may be connected with the size of the deletion in the Twist gene. There are no pathognomonic symptoms of SCS, which would indicate a diagnostic problem. Our patient displayed small dysmorphic changes within the skull and limbs and proper intellectual development. On the basis of an intraoral, extraoral examination and X-rays, she was diagnosed with relative mandibular prognathism. Currently, she is treated with a removable appliance. This report emphasizes a considerable variability of symptoms in SCS and highlights the most common features.

Apert syndrome: A case report and review of the literature.

Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral syndactyly of hands and feet. The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management.

Apert's Syndrome.

Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma-tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72.

Anesthetic management of craniosynostosis repair in patient with Apert syndrome.

Apert syndrome is an autosomal dominant disease characterized by craniosynostosis, midface hypoplasia and syndactyly. In general, patients present in early childhood for craniofacial reconstruction surgery. Anesthetic implications include difficult airway, airway hyper-reactivity; however, possibility of raised intracranial pressure especially when operating for craniosynostosis and associated congenital heart disease should not be ignored. Most of the cases described in literature talk of management of syndactyly. We describe the successful anesthetic management of a patient of Aperts syndrome with craniosynostosis posted for bicornual strip craniotomy and fronto-orbital advancement in a 5-year-old child.

Acrocephalosyndactyly, Apert type, in a newborn: Cerebral sonography.

We describe the clinical and cerebral ultrasonographic features of a rare case of type 1 acrocephalosyndactyly (Apert syndrome). The patient was a newborn male whose twin had died in utero. Most cases of Apert syndrome are sporadic, although autosomal dominant inheritance has also been reported. Diagnosis is based on physical examination together with imaging data. Since Apert syndrome can give rise to numerous CNS abnormalities, affected newborns should undergo echoencephalography for more complete characterization of their malformations.