Apert Syndrome: A Case Report

Khan, Saba; Chatra, Laxmikanth; Shenai, Prashanth; Veena, KM

doi:10.5005/jp-journals-10005-1166

Cited by 11 publications

(40 citation statements)

References 5 publications

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“…Therefore, this patient had corrective surgery twice at the age of 4 years on both hands to correct joint contractures. Corrective surgery for syndactyly should be done in the first year of life and completed by 3 to 4 years of age [22]. Moreover, counseling for the patient should involve referral to orthodontic and orthognathic surgery for a treatment plan.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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Background Apert 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 presentation A 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). Conclusion We 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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2019

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“…The full-texts of the remaining 52 citations were critically reviewed. Finally, 35 relevant papers were identified for inclusion in the present systematic review; these were then classified, according to publication/topic type, into four categories ( Table 2 ) ( 1 , 2 - 6 , 9 , 12 , 14 , 18 - 20 , 22 , 23 ). The majority of these were cross-sectional studies, and one article was in Spanish language ( 19 ) ( Table 3 ) ( 7 , 8 , 10 , 11 , 13 , 15 - 17 , 21 , 35 , 36 ).…”

Section: Resultsmentioning

confidence: 99%

“…Thus, and according to Khan et al ( 12 ), craniotomy to treat craniosynostosis and brain compression is usually performed at 6 months of age, corrective surgery for hand/foot digit syndactyly is carried out between the year 1 and 3–4 years of age, midface and palate corrections at 4–6 years, and orthognathic surgery/orthodontics, during the permanent dentition stage or after completion of growth. However, several interceptive or corrective fix/removable orthodontic appliances may already be placed during the primary and mixed-dentition stages ( 1 ).…”

Section: Discussionmentioning

confidence: 99%

“…Fortunately, the majority of children with AS do not require any special dietary recommendations or activity/sport restrictions ( 1 , 6 ). On the other hand, the non-surgical manipulation of AS will be possible in the future, for example, by employing selective inhibitors of the FGFR-kinase domain ( 4 , 12 , 34 ).…”

Section: Discussionmentioning

confidence: 99%

“…Craniosynostosis leads to a restriction of facial-skeleton anteroposterior growth, from the glabella to the posterior fontanelle, giving rise to the characteristic cone-shaped head of AS ( acrobrachycephaly or turribrachycephaly ) ( 9 , 11 ). Craniofacial findings include midface/maxillary hypoplasia with Class III malocclusion, premature fusion of the fifth and sixth cervical vertebrae, flat forehead and occiput, a depressed broad nose with bulbous tip, and deviated septum ( 12 ). Buco-dental features are described in Table 1 ( 4 , 7 , 9 , 11 , 13 - 16 ).…”

Section: Introductionmentioning

confidence: 99%

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Dental approach for Apert syndrome in children: a systematic review

Ruiz-Rodríguez

et al. 2017

Med Oral

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BackgroundApert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS.Material and MethodsA search of the literature was performed from April to June 2016 in five electronic databases. Clinical interventional or observational studies, reviews, and case reports were included. The present systematic review was carried out strictly following PRISMA and Cochrane Collaboration criteria.ResultsA total of 129 potential references were identified. After reviewing titles and abstracts, 77 of these did not meet the desired criteria and were discarded. The full text of the remaining 52 manuscripts was critically screened. Finally, 35 relevant papers were identified for inclusion in the present systematic review and classified according to topic type.ConclusionsAccording to the information gathered, dentistry practitioners must be able to supply an early diagnosis through the recognition of AS clinical features and provide correct oral management. Additionally, they should be integrated in a multidisciplinary medical care team in order to improve the quality of life of the affected patients. Key words:Apert syndrome, acrocephalosyndactyly, craniosynostosis, skeletal dysplasias, systematic review.

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