Apert Syndrome: A Case Report
Published on: 27th December, 2023
Background: Apert syndrome is a type 1 acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses, dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and is the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristics from the phenotypic manifestations only. Case report: We present a case of a newborn baby girl, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnosis of Apert Syndrome.
Search by University/Institution
Enter your University/Institution to find colleagues at HSPI.
Ensuring author's satisfaction with
- Friendly and hassle-free publication process
- Less production time of articles
- Constructive peer-review
- Enhancing journal reputation
- Regular feedback system
- Quick response to authors' queries
Most Viewed Keywords
- ELISA
- Natural resource
- Interpretation of X-ray images
- Bland
- ACL
- Fungicide
- Aluminum nitride films
- Ca2+/cAMP interaction
- Ecologic study
- Structural
- Light
- Health care workers
- Bee
- Telerehabilitation
- Polycystic ovary disease
- Reproduction Problems
- Mushroom, Critical diseases, Nutrition, immunity
- Pachydermoperiostosis syndrome
- Intracerebral hemorrhage
- Hemodialysis
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testmonials
Journal of Pulmonary and Respiratory Research is good journal for respiratory research purposes. It takes 2-3 weeks maximum for review of the manuscript to get published and any corrections to be made...
Divya Khanduja
“Mobile apps and wearable technology are becoming ubiquitous in our environment. Their integration with healthcare delivery is just beginning to take shape. The early results are promising and the...
BS, PharmD., MBA, CPHIMS, FHIMSS, Adjunct Professo...
Helen Figge
Many thanks for publishing my article in your great journal and the friendly and hassle-free publication process, the constructive peer-review, the regular feedback system, and the Quick response to a...
Azab Elsayed Azab
I do appreciate for your service including submission, analysis, review, editorial and publishing process. I believe these esteemed journal enlighten the science with its high-quality personel.
Bora Uysal
I, Muhammad Sarwar Khan, am serving as Editor on Archives of Biotechnology and Biomedicine (ABB). I submitted an editorial titled, 'Edible vaccines to combat Infectious Bursal Disease of poultry' for ...
University of Agriculture, Pakistan
Muhammad Sarwar Khan
I wanna to thank Clinical Journal of Nursing Care and Practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!
Atsedemariam Andualem
Your service is very good and fast reply, also your service understand our situation and support us to publication our articles.
Ayman M Abu Mustafa
Great, thank you! It was very efficient working w/ your group. Very thorough reviews (i.e., plagiarism, peer, etc.). Would certainly recommend that future authors consider working w/ your group.
David W Brett
We really appreciate your efforts towards our article, the professional way you handle our request for exemption from charges. It was a great honor for us to publish in your magazine.
Achraf elbakkaly
Thank you and your company for effective support of authors which are very much dependable on the funds gambling for science in the different countries of our huge and unpredictable world. We are doin...
Russia