Apert syndrome: clinical and radiographic features and case report

Varoli, Felipe Paes; Santos, Karina Cecília Panelli; Costa, Cláudio; Oliveira, Jefferson Xavier de

doi:10.1590/s1980-65232011000100021

Cited by 9 publications

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“…Besides, intracellular signals oriented by FGFR play an important role in the embryogenesis, and in its deficiency, premature gastrulation, implantation anomalies, impairment of epithelial-mesencyhmal interaction, and defects in membranous, and endochondrial bone formation are seen. Most of the patients have a normal karyotype [4]. Although in our country specific gene mutation analysis is performed in private medical centers, in our province we haven’t this opportunity.…”

Section: Discussionmentioning

confidence: 99%

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

Koca¹

2016

North Clin Istanbul

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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.

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Section: Discussionmentioning

confidence: 99%

“…In our case apart from mild degrees of dyspnea, and snoring, any other symptom suggesting internal organ pathology was not found. In patients with AS, true megalencephaly is seen, however generally mental disorders are rarely encountered [2, 3, 4, 5, 6]. …”

Section: Discussionmentioning

confidence: 99%

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

Koca¹

2016

North Clin Istanbul

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“…They are somewhat mentally subnormal and have dentition problems. Their height is shorter than general population due to short limbs but not as short as achondroplasia 8. As stated earlier those who survive with or without some sort of coronal suture surgery need maxillaofacial surgeon for advancement of fronto facial and mid facial part of skull to correct the proptosis and for cosmetic reason.…”

Section: Introductionmentioning

confidence: 98%

“…Patient has also shallow orbit causing some degree of proptosis and hypertelorism 3. They may be accompanied by fusion of cervical vertabra specialy C5-67 and other visceral, skeletal C.N.S anomalies 8…”

Section: Introductionmentioning

confidence: 99%

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Apert Syndrome: Report of a rare congenital malformation

Rathore¹,

Rathore

2017

Pak J Med Sci

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A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work.

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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 syndrome: clinical and radiographic features and case report

Cited by 9 publications

References 0 publications

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

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

Apert Syndrome: Report of a rare congenital malformation

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

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