Related Experiment Video
Updated: May 26, 2026
07:50
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Apert syndrome: A case report
Zehra Ileri1, Yasar Bedii Goyenc
1Department of Orthodontics Faculty of Dentistry, Selcuk University, Konya, TURKIYE.
European Journal of Dentistry
|January 10, 2012
Summary
This report details a case of Apert syndrome in an infant, focusing on craniofacial features and orthodontic management. Early intervention with an acrylic appliance aids feeding and guides growth in Apert syndrome patients.
Area of Science:
- Craniofacial surgery
- Pediatric dentistry
- Clinical case report
Background:
- Apert syndrome is a rare genetic disorder characterized by premature fusion of skull sutures (craniosynostosis) and distinctive facial features.
- Key features include craniosynostosis, midface hypoplasia, syndactyly (webbed digits), hypertelorism (widely spaced eyes), and proptosis (bulging eyes).
- Cleft palate is a common orofacial cleft that can significantly impact feeding and development.
Observation:
- A 16-day-old female infant presented with a cone-shaped calvarium, midface hypoplasia, syndactyly, hypertelorism, proptosis, and cleft palate.
- Maxillary impression was taken, and an acrylic appliance was fabricated to facilitate feeding and guide maxillary growth.
- The patient required a long-term orthodontic treatment plan.
Findings:
- The presented case highlights the complex craniofacial anomalies associated with Apert syndrome.
- Early application of a customized acrylic appliance can address feeding difficulties and support orthopedic management in infants with cleft palate and Apert syndrome.
- A multidisciplinary approach is crucial for comprehensive care.
Implications:
- This case underscores the importance of early diagnosis and intervention for Apert syndrome to optimize outcomes.
- Orthodontic treatment, integrated within a multidisciplinary team, plays a vital role in managing the craniofacial deficiencies.
- Effective management strategies can improve the quality of life for patients with Apert syndrome.
Related Concept Videos
01:21Smooth Endoplasmic Reticulum
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:30Aneurysm I: Introduction
An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
01:24Antisocial Personality Disorder
Antisocial personality disorder is a chronic mental health condition characterized by persistent patterns of disregard for the rights and well-being of others. Individuals with antisocial personality disorder exhibit behaviors that include deceitfulness, impulsivity, irresponsibility, aggression, and a profound lack of empathy. These traits often manifest early in life and persist into adulthood, leading to significant personal, social, and legal consequences.
Behavioral Characteristics and...
Behavioral Characteristics and...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.