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
- TIGIT
- Brown tumor
- Blood pressure
- Uvulitis
- Blowflies
- Cannabis
- Post placental intrauterine contraceptive Device
- Thrombocytopenic purpura-haemolytic uremic syndrome
- Groundwater
- Joint Functional Screening for Older Adults, Clinical Prevention of Accidental Fall
- Clinical research
- Artificial intelligence
- Alcoholic steatohepatitis
- Stroke
- Case report
- Childbirth
- Poverty
- Arrhythmia
- Adrenal glands
- Skin perfusion
Search Articles by Country
Get all latest articles in all Heighten Science Publications Inc journals by country.
Testmonials
“The choice to submit the forensic case study to the Journal of Addiction Therapy and Research was dictated by the match between the content and the potential readership. The publication process pro...
Ph.D, Boston University Department of Communicatio...
Elisabeth H. Wiig
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
The service is nice and the time of processing the application is fast.
Department of Neurosurgery, Queen Elizabeth Hospit...
Long Ching
Submission of paper was smooth, the review process was fast. I had excellent communication and on time response from the editor.
Ekiti State University Teaching Hospital, Nigeria
Ayokunle Dada
During the process your positive communication, prompt feedback and professional approach is very highly appreciated. We would like to thank you very much for your support.
Can Vuran
Your big support from researchers around the world is the best appreciation from your scientific teams. We believe that there should be no barrier in science and you make it real and this motto come ...
Arefhosseinir Rafi
"It was a pleasure to work with the editorial team of the journal on the submission of the manuscript. The team was professional, fast, and to the point".
NC A&T State University, USA
Moran Sciamama-Saghiv
It was a great experience publishing through JCICM. The article has reached out to several institutions. Appreciate your professional work. Hope to work with you again
Anas Wardeh
I want to thank you for our collaboration. You were fast and effective with a positive spirit of teamwork. I am truly excited from our collaboration. You were like always fast, efficient and accurate...
Aikaterini Solomou
I hope to ability to make some new investigation and publish in Your Company in future.
Artur Stopyra
