scholarly journals Apert syndrome: A case report

2012 ◽  
Vol 06 (01) ◽  
pp. 110-113 ◽  
Author(s):  
Zehra Ileri ◽  
Yasar Bedii Goyenc
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Orthodontic Treatment ◽  
Multidisciplinary Approach ◽  
Apert Syndrome ◽  
Syndrome Patient ◽  
Second Child ◽  
Midface Hypoplasia ◽  
Long Time ◽  
Hands And Feet

ABSTRACTThe purpose of this report is to present Apert syndrome patient by highlighting craniofacial characteristics and orthodontic approach to treatmentThe patient, a 16-day-old female and the second child of healthy parents, was admitted to our department with primary complaint of cleft palate. She had a cone-shaped calvarium, midface hypoplasia, syndactyly of the hands and feet, hypertelorism, proptosis and cleft palate. After taking maxillary impression, an acrylic appliance was applied to orientate the growing and enable the feedingA case with Apert syndrome undergoes the orthodontic treatment for a long time and also a multidisciplinary approach is essential to determine the best collaborative corrective plan for the deficiencies of the patient. (Eur J Dent 2012;6:110-113)

scholarly journals Prosthetic Rehabilitation of Cleft Lip Palate with Andrews Bridge Modified as Obturator Prosthesis: Case Report

2020 ◽  
Vol 24 (1) ◽  
pp. 57-61
Author(s):  
Almina Murić ◽  
Demet Cagil Ayvalioglu ◽  
Bilge Gokcen Rohlig
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Orthodontic Treatment ◽  
Cleft Lip ◽  
Radiographic Evaluation ◽  
Congenital Defects ◽  
Prosthetic Rehabilitation ◽  
Removable Partial Denture ◽  
Partial Denture ◽  
Cleft Lip Palate

SummaryBackground/Aim: Congenital defects such as cleft palate and lips require a long-lasting and multidisciplinary approach. In cases when surgical and orthodontic treatment is not feasible, prosthodontic management of these patients is advocated. Prosthetic rehabilitation of cleft palate in concerning of achieving aesthetic and function (such as swallowing and speech) outcomes is very demanding.Case report: Material and method: After performing the necessary surgical procedures and orthodontic treatment, 24-years-old male patient was sent to the Department for Maxillofacial Prosthetics of Istanbul University. Followed the clinical examination, the necessary periodontal and conservative therapy was performed. After radiographic evaluation and dental cast analysis prosthetic rehabilitation was performed. The prosthetic rehabilitation of cleft palate was accomplish with conventional fixed partial denture whose number of included abutment were defined by biomechanical principles. Additionally removable partial denture were manufactured for closing oro-nasal defects and lip supporting.Conclusions: The prosthetic rehabilitation resulted with functionally and aesthetically content prosthesis. With achieving proper swallowing Quality of Life of the patient was enormously enhanced.

scholarly journals A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

2020 ◽  
Vol 3 (11) ◽  
pp. 352-354
Author(s):  
Pooja Gaur
Keyword(s):  
Case Report ◽  
Clinical Care ◽  
Open Bite ◽  
Apert Syndrome ◽  
Facial Features ◽  
Type I ◽  
Anterior Open Bite ◽  
Rare Type ◽  
Patient Reported ◽  
Hands And Feet

Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.

Orthodontic Treatment of a Cleft Palate Patient with Surgically Assisted Rapid Maxillary Expansion

1996 ◽  
Vol 33 (5) ◽  
pp. 445-449 ◽  
Author(s):  
Takafumi Susami ◽  
Takayuki Kuroda ◽  
Teruo Amagasa
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Orthodontic Treatment ◽  
Rapid Maxillary Expansion ◽  
Third Molars ◽  
Maxillary Expansion ◽  
Anterior Maxilla ◽  
Posterior Crossbite ◽  
Palate Patient ◽  
Suture Opening

Some adult cleft palate patients show severe maxillary transverse contraction and posterior crossbite. This case report demonstrates successful surgical-orthodontic treatment of such a patient. Surgically assisted rapid maxillary expansion (SA-RME) was completed prior to comprehensive orthodontic treatment. The osteotomy was performed on both the buccal and lingual aspects of the posterior maxillary alveolus. A Hyrax-type maxillary-expansion appliance was used, and the screw (0.2 mm, one quarter turn) was turned two or three times per day. Comprehensive orthodontic treatment was initiated after extraction of the mandibular first premolars and four third molars. The maxillary lateral incisors were also extracted after active orthodontic treatment. The amount of expansion achieved using SA-RME was greater at the posterior than at the anterior maxilla. Midpalatal suture opening occurred. After orthodontic treatment, occlusal stability was satisfactory. This case demonstrates the effectiveness of SA-RME in adult cleft palate patients with severe posterior crossbite.

scholarly journals Apert syndrome: Diagnostic and management problems in a resource-limited country

2019 ◽  
Vol 11 (4) ◽  
Author(s):  
Makoura Barro ◽  
Yahaya S. Ouedraogo ◽  
Fatimata S. Nacro ◽  
Bintou Sanogo ◽  
Solange O. Kombasséré ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Choanal Atresia ◽  
University Hospital ◽  
Apert Syndrome ◽  
Psychomotor Development ◽  
Cardiac Ultrasound ◽  
Resource Limited ◽  
Craniofacial Dysmorphism ◽  
Rubella Serology ◽  
Hands And Feet

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn’t reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects.

scholarly journals Clinical Features of Apert Syndrome in Infancy: A rare case in Indonesia

2021 ◽  
Vol 2 (2) ◽  
pp. 140-4
Author(s):  
Muhammad Pradhika Mapindra ◽  
Muhammad Pradhiki Mahindra
Keyword(s):  
Case Report ◽  
Growth Factor ◽  
Cleft Palate ◽  
Fibroblast Growth Factor ◽  
Clinical Features ◽  
Apert Syndrome ◽  
Fibroblast Growth Factor 2 ◽  
Fibroblast Growth ◽  
Nasogastric Feeding ◽  
Female Baby

Background: Apert syndrome is characterized by several malformations of cranial-facial and syndactyly. The incidence of Apert syndrome was reported at approximately 1 per 65,000 live births, globally. Fibroblast Growth Factor 2 (FGFR2) is believed to hold a key role in the syndrome. Objectives: This case report is aiming to describe the information on a rare incidence of craniosynostosis syndromes on Indonesian infants. Case Illustration: One month old female baby was admitted to the hospital due to the breastfeeding difficulty caused by cleft palate. The patient was known to experience defects of face-head features and syndactyly since birth. This patient was observed and controlled to undergo nasogastric feeding until meet the appropriate age for surgical therapy. Discussion: Mutation of  Ser252Trp and Pro253Arg was found in the patient. Based on this finding, this case report may strengthen the statement about the correlation between Ser252Trp and cleft palate whereas Pro253Arg is linked with syndactyly in individuals with the syndrome. Conclusion:. This case may give beneficial information for clinicians when they receive a patient with the same clinical features. However, further investigation to know this syndrome still needs to be developed. Keywords: Apert Syndrome, FGFR2, palate cleft, Pro253Arg, Ser252Trp   Latar Belakang: Pasien dengan sindroma Apert memiliki fitur karakteristik berupa malformasi kepala dan wajah disertai syndactyly. Insidensi sindroma ini berkisar 1 per 65.000 kelahiran hidup secara global. Etiologi kelainan ini dikatikan dengna mutase pada Fibroblast Growth Factor 2 (FGFR2). Tujuan: Laporan kasus ini bertujuan untuk mendeskripsikan kejadian langka dari sindroma craniosynostosis pada bayi Indonesia. Ilustrasi Kasus: Bayi perempuan usia 1 bulan dibawa ke rumah sakit dengan masalah menyusui akibat palatoschizis. Pasien memiliki riwayat defek wajah dan kepala disertai syndactyly sejak lahir. Pasien ini kemudian diobservasi melalui diet per nasogastric tube sampai siap dilakukan terapi pembedahan. Pembahasan: Mutasi pada Ser252Trp dan Pro253Arg ditemukan pada pasien ini. Sehingga, laporan kasus ini mungkin memperkuat temuan mengenai korelasi Ser252Trp dan palatoschizis sedangkan Pro253Arg dikaitkan dengan syndactyly. Kesimpulan: Kasus ini mungkin dapat memberikan informasi tambahan sebagai referensi untuk klinisi ketika menerima pasien dengan gejala klinis serupa. Namun, studi terkait perlu diperdalam untuk mengetahui lebih jauh mengenai sindroma serupa. Kata Kunci: FGFR2, palatoschizis, Pro253Arg, Ser252Trp, sindroma Apert

Surgical Orthodontic Treatment for Open Bite in Noonan Syndrome Patient: A Case Report

2016 ◽  
Vol 53 (2) ◽  
pp. 253-258 ◽  
Author(s):  
Masayoshi Kawakami ◽  
Kazuhiko Yamamoto ◽  
Tadahiro Shimomura ◽  
Tadaaki Kirita
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Orthodontic Treatment ◽  
Open Bite ◽  
Syndrome Patient

scholarly journals Unilateral Coronal Craniosynostosis in an Apert-Like Patient

2018 ◽  
Vol 27 (1) ◽  
pp. 78-82
Author(s):  
Navid Pourtaheri ◽  
Derek Z. Wang ◽  
Robert P. Lesko ◽  
Christopher M. Bonfield ◽  
Peter Taub ◽  
...  
Keyword(s):  
Case Report ◽  
Computerized Tomography ◽  
Apert Syndrome ◽  
Coronal Suture ◽  
Anterior Fontanelle ◽  
Head Shape ◽  
The Third ◽  
Web Space ◽  
Hands And Feet ◽  
Surgical Release

Background and Significance: Apert syndrome is a congenital disorder of patients who typically present with bilateral coronal craniosynostosis and varying degrees of complex syndactyly of the hands and feet, among other features. We describe a unique presentation of a rare Apert-like patient with unilateral coronal craniosynostosis and complex syndactyly of the hands and feet. Case Report: A 2-year-old male patient presented to the craniofacial clinic with his mother due to a concerning head shape. The patient also had bilateral syndactyly of the hands and feet and underwent prior surgical release of the third web space. Computerized tomography of the head illustrated a small open anterior fontanelle, a left harlequin orbit, complete left coronal craniosynostosis, and a patent right coronal suture. The patient subsequently underwent fronto-orbital advancement for expansion of the cranial vault and correction of the asymmetric forehead and orbit. The procedure resulted in improvement of his deformity. Conclusion: This case illustrates a unique presentation of an acrocephalosyndactyly (ACS) syndrome with asymmetric, unilateral coronal craniosynostosis and complete complex syndactyly of the hands and feet that is most consistent with Apert syndrome. Although the majority of patients with ACS can be categorized into known syndromes, other more unusual presentations must still be considered. Such unique cases are exceedingly rare and only through additional reporting and review of unique phenotypes can new subtypes of common ACS syndromes be classified.

scholarly journals Bilateral geminated teeth with talon cusps: A case report

2012 ◽  
Vol 06 (04) ◽  
pp. 440-444
Author(s):  
Sevgi Sener ◽  
Nimet Unlu ◽  
Faruk Ayhan Basciftci ◽  
Guldane Bozdag
Keyword(s):  
Case Report ◽  
Orthodontic Treatment ◽  
Multidisciplinary Approach ◽  
Composite Resin ◽  
Lateral Incisor ◽  
Exposed Surface ◽  
Dental Anomalies ◽  
Maxillary Lateral Incisor ◽  
Clinical Problems

ABSTRACTTalon cusps and gemination are rare dental anomalies that can cause significant aesthetic and clinical problems. Bilateral talon cusps on geminated teeth have not been reported so far. The case of gemination with talon cusps on both maxillary central incisors was presented in this report. The main complaints of the patient were tongue irritation and aesthetic problems. The talon cusps were gradually reduced at 2 consecutive sittings and the exposed surface was treated with a fluoride gel. The aesthetical appearance was improved using a composite resin. Fixed orthodontic treatment was initiated for repositioning the left maxillary lateral incisor. A long term, multidisciplinary approach is necessary for the treatment of gemination with talon cusps. (Eur J Dent 2012;6:440-444)

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