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Northern Clinics of Istanbul 2016Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features....
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.
PubMed: 28058401
DOI: 10.14744/nci.2015.30602 -
Plastic and Reconstructive Surgery.... May 2019The Michigan Hand Questionnaire is widely used to assess hand outcomes in congenital hand deformities. The purpose of the present study is to compare Apert syndrome hand...
BACKGROUND
The Michigan Hand Questionnaire is widely used to assess hand outcomes in congenital hand deformities. The purpose of the present study is to compare Apert syndrome hand outcomes according to Upton hand type and age stratification with age-matched unaffected controls.
METHODS
The Brief Michigan Hand Questionnaire was administered to 39 Apert patients after completion of the digit separation surgical regimen, and 140 age-matched unaffected controls. Patients were divided into 3 groups according to age. In group 1 (from 4 months to 7 years of age), responses were provided by parents of Apert patients, and in group 2 (from 8 to 17 years of age), patients responded with assistance from their parents, and in group 3 (18 years of age or older), responses were provided by the patients themselves. Groups were substratified according to Upton hand type (type I, II, and III). Comparisons were made among groups, subgroups, and controls.
RESULTS
Comparisons of hand types for intragroups 1, 2, and 3, did not demonstrate any statistically significant differences ( > 0.05) between hand outcomes according to Upton hand type, regardless of patient age. Comparisons between Apert patients and their age-matched controls demonstrated statistically significant differences ( < 0.05), as the control group had higher outcome scores.
CONCLUSIONS
Similar hand outcomes scores were achieved by all Apert patients regardless of hand type. Following completion of the digit separation regimen, Apert patients presented hand outcome scores that were lower than those of the patients in the normative control group.
PubMed: 31333957
DOI: 10.1097/GOX.0000000000002230 -
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 -
The Pan African Medical Journal 2023
Topics: Humans; Acrocephalosyndactylia; Syndactyly; Fingers; Toes
PubMed: 37521759
DOI: 10.11604/pamj.2023.45.24.38946 -
Orphanet Journal of Rare Diseases Jun 2006Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on... (Review)
Review
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.
Topics: Acrocephalosyndactylia; Fingers; Genes, Dominant; Humans; Mutation; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Toes
PubMed: 16740155
DOI: 10.1186/1750-1172-1-19 -
Plastic and Reconstructive Surgery Jan 2018A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a... (Review)
Review
A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.
Topics: Abnormalities, Multiple; Animals; Choanal Atresia; Craniosynostoses; Genetic Markers; Humans; Mice; Mutation; Nasopharynx; Receptor, Fibroblast Growth Factor, Type 2; Syndrome
PubMed: 29280877
DOI: 10.1097/PRS.0000000000003928 -
BMC Musculoskeletal Disorders Nov 2020Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as... (Review)
Review
BACKGROUND
Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as acrocephalosyndactyly type I. Considering these multidisciplinary issues, frequently requiring surgical interventions at an early age, deformities of the feet have often been neglected and seem to be underestimated in the management of Apert syndrome. Typical Apert foot features range from complete fusion of the toes and a central nail mass to syndactyly of the second to fifth toe with a medially deviated great toe; however, no clear treatment algorithms were presented so far. This article reviews the current existing literature regarding the treatment approach of foot deformities in Apert syndrome.
STATE-OF-THE-ART TOPIC REVIEW
Overall, the main focus in the literature seems to be on the surgical approach to syndactyly separation of the toes and the management of the great toe deformity (hallux varus). Although the functional benefit of syndactyly separation in the foot has yet to be determined, some authors perform syndactyly separation usually in a staged procedure. Realignment of the great toe and first ray can be performed by multiple means including but not limited to second ray deletion, resection of the proximal phalanx delta bone on one side, corrective open wedge osteotomy, osteotomy of the osseous fusion between metatarsals I and II, and metatarsal I lengthening using gradual osteodistraction. Tarsal fusions and other anatomical variants may be present and have to be corrected on an individual basis. Shoe fitting problems are frequently mentioned as indication for surgery while insole support may be helpful to alleviate abnormal plantar pressures.
CONCLUSION
There is a particular need for multicenter studies to better elaborate surgical indications and treatment plans for this rare entity. Plantar pressure measurements using pedobarography should be enforced in order to document the biomechanical foot development and abnormalities during growth, and to help with indication setting. Treatment options may include conservative means (i.e. insoles, orthopedic shoes) or surgery to improve biomechanics and normalize plantar pressures.
LEVEL OF EVIDENCE
Level V.
Topics: Acrocephalosyndactylia; Foot Deformities; Hand; Humans; Metatarsal Bones; Osteotomy
PubMed: 33248465
DOI: 10.1186/s12891-020-03812-2 -
Monaldi Archives For Chest Disease =... Apr 2021Dear Editor, We read with much excitement in the article "Takotsubo syndrome and pheochromocytoma: an insidious combination" published by Maffé et al. in your esteemed...
Dear Editor, We read with much excitement in the article "Takotsubo syndrome and pheochromocytoma: an insidious combination" published by Maffé et al. in your esteemed journal...
Topics: Adrenal Gland Neoplasms; Humans; Pheochromocytoma; Takotsubo Cardiomyopathy
PubMed: 33840185
DOI: 10.4081/monaldi.2021.1859 -
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 -
American Journal of Medical Genetics.... Apr 2013Craniofacial and neural tissues develop in concert throughout prenatal and postnatal growth. FGFR-related craniosynostosis syndromes, such as Apert syndrome (AS), are...
Craniofacial and neural tissues develop in concert throughout prenatal and postnatal growth. FGFR-related craniosynostosis syndromes, such as Apert syndrome (AS), are associated with specific phenotypes involving both the skull and the brain. We analyzed the effects of the FGFR P253R mutation for AS using the Fgfr2(+/P253R) Apert syndrome mouse to evaluate the effects of this mutation on these two tissues over the course of development from day of birth (P0) to postnatal day 2 (P2). Three-dimensional magnetic resonance microscopy and computed tomography images were acquired from Fgfr2(+/P253R) mice and unaffected littermates at P0 (N = 28) and P2 (N = 20).Three-dimensional coordinate data for 23 skull and 15 brain landmarks were statistically compared between groups. Results demonstrate that the Fgfr2(+/P253R) mice show reduced growth in the facial skeleton and the cerebrum, while the height and width of the neurocranium and caudal regions of the brain show increased growth relative to unaffected littermates. This localized correspondence of differential growth patterns in skull and brain point to their continued interaction through development and suggest that both tissues display divergent postnatal growth patterns relative to unaffected littermates. However, the change in the skull-brain relationship from P0 to P2 implies that each tissue affected by the mutation retains a degree of independence, rather than one tissue directing the development of the other.
Topics: Acrocephalosyndactylia; Animals; Anthropometry; Brain; Disease Models, Animal; Magnetic Resonance Imaging; Mice; Mice, Transgenic; Mutation; Organ Size; Receptor, Fibroblast Growth Factor, Type 2; Skull; Tomography, X-Ray Computed
PubMed: 23495236
DOI: 10.1002/ajmg.a.35805