Apert's syndrome: A case report with review of the literature

Koca, Tuba Tülay

doi:10.14744/nci.2015.30602

Cited by 15 publications

(24 citation statements)

References 14 publications

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“…The nose is wide and short due to which the nasal bridge is depressed. 1,2,5,7 Anomalies of the elbows and shoulders, skeleton, viscera, and impaired mental function due to central nervous system anomalies have been reported by previous studies. 6,8 Oral signs include pseudocleft, high-arched palate, transverse, and sagittal maxillary hypoplasia, dental crowding, delay in dentition, ectopic teeth, disarrayed/crowded teeth.…”

Section: Introductionmentioning

confidence: 82%

“…1906, Eugene Apert, a French Physician first described a rare type I acrocephalosyndactyly syndrome and termed it as "Apert syndrome". 1 Its characteristic clinical features were severe syndactyly of the hands and feet, craniosynostosis and dysmorphic facial features. 2 This syndrome is autosomal dominant and is due to mutations in the fibroblast growth factor receptors (FGFR-2) gene at the locus 10q26.…”

Section: Introductionmentioning

confidence: 99%

“…5,6 A few sporadic cases of this syndrome are reported, and develop because of new mutations in genes. 1 Cases with Apert syndrome document distinctive clinical phenotypic features in which the coronal sutures fuse prematurely (at less than 3 months) and this leads to a cone-shaped head known as acrocephalic (Cone-Shaped) coupled with a high prominent forehead and shortened antero-posterior diameter. The mid face is hypoplastic.…”

Section: Introductionmentioning

confidence: 99%

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A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

Gaur¹

2020

IHRJ

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Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.

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Section: Introductionmentioning

confidence: 82%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

Gaur¹

2020

IHRJ

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“…The mandible is generally normal in size; however, pseudoprognatism can be seen. Several vertebral anomalies have been reported (12,13).…”

Section: Introductionmentioning

confidence: 99%

“…The FGFR2 gene encodes the protein responsible for blood vessel formation; wound healing; embryonic evolution; and regulation of cellular division, growth, and maturation with three other FGFRs (13). Additionally, FGFR binds to fibroblast growth factors and plays a significant role in the fusion process of the skull bones (14).…”

Section: Introductionmentioning

confidence: 99%

The Association between Apert Syndrome and Autistic Spectrum Disorder in a Patient of Cypriot Heritage

Cengiz¹,

Ergören²

2018

Cyprus J Med Sci

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Apert syndrome (AS) is the most frequent form of the acrocephalosyndactyly syndromes. It has an estimated incidence of one in 100000 to 160000 newborns.A 3-year-old boy with the karyotype of 46, XY and diagnosed with AS was directed to our clinic for delay in speech acquisition. This is the first case of AS in the Cyprus Island. Due to the mutation in fibroblast growth factor receptor 2 (FGRF2) gene, he was born with the typical phenotype of AS. The Ankara Developmental Screening Inventory (ADSI) was applied to the parents, and the patient was asked some practical directives. The outcome of ADSI showed that the child could be at 13-15 months of developmental age with more than 30% of growth retardation. As per our knowledge, this is the second case of 46, XY child who was diagnosed with acrocephalosyndactyly syndrome and shows a strong association with autistic spectrum disorders.

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Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis

Alam

Alfawzan

Srivastava

et al. 2022

Sci Rep

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This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric characteristics (CCC) to combine publicly available scientific information while also improving the validity of primary study findings. A comprehensive search was performed in the following databases: PubMed, Google Scholar, Scopus, Medline, and Web of Science, an article published between 1st January 2000 to October 17th, 2021. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed to carry out this systematic review. We used the PECO system to classify people with AS based on whether or not they had distinctive CCC compared to the non-AS population. Following are some examples of how PECO has been used: People with AS are labeled P; clinical or genetic diagnosis of AS is labeled E; individuals without AS are labeled C; CCC of AS are labeled O. Using the Newcastle–Ottawa Quality-Assessment-Scale, independent reviewers assessed the articles' methodological quality and extracted data. 13 studies were included in the systematic review. 8 out of 13 studies were score 7–8 in NOS scale, which indicated that most of the studies were medium to high qualities. Six case–control studies were analyzed for meta-analysis. Due to the wide range of variability in CCC, we were only able to include data from at least three previous studies. There was a statistically significant difference in N-S-PP (I2: 76.56%; P = 0.014; CI 1.27 to − 0.28) and Greater wing angle (I2: 79.07%; P = 0.008; CI 3.07–1.17) between AS and control subjects. Cleft palate, anterior open bite, crowding in the upper jaw, and hypodontia occurred more frequently among AS patients. Significant shortening of the mandibular width, height and length is the most reported feature in AS patients. CT scans can help patients with AS decide whether to pursue orthodontic treatment alone or to have their mouth surgically expanded. The role of well-informed orthodontic and maxillofacial practitioners is critical in preventing and rehabilitating oral health issues.

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Apert's syndrome: A case report with review of the literature

Cited by 15 publications

References 14 publications

A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

The Association between Apert Syndrome and Autistic Spectrum Disorder in a Patient of Cypriot Heritage

Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis

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