scholarly journals Apert syndrome: a case report

2015 ◽  
Vol 04 (03) ◽  
pp. 145-148
Author(s):  
Barman A. ◽  
Dutta BC ◽  
Sarkar JK
Keyword(s):  
Rare Condition ◽  
Open Bite ◽  
Apert Syndrome ◽  
Anterior Open Bite ◽  
Maxillary Hypoplasia ◽  
X Ray ◽  
Fgfr2 Gene ◽  
History Of ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome was described as a triad of craniosynostosis, syndactyly and maxillary hypoplasia. The incidence of Apert syndrome is approximately one in 50,000 births. A three year old boy was brought with a history of facial, hand and feet deformities to the Pediatrics out patient department. On examination, he had symmetric syndactyly of the hands and feet. He also had craniosynostosis with deformed skull. This patient also exhibited midface hypoplasia, exophthahnia, ocular hypertelorism and high arch palate. Crowding of the teeth, malocclusion with anterior open bite is also found. The X-ray of the hand and feet showed skeletal fusion of phalanges (complex syndactyly). The case represents a rare condition where there is a mutation in the FGFR2 gene causing Apert syndrome.

scholarly journals Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

2021 ◽  
Author(s):  
Chandra Bhan Singh ◽  
Biswajit Mishra ◽  
Rashmi Patel ◽  
Ashok Kumar ◽  
Akhtar Ali
Keyword(s):  
Autosomal Dominant ◽  
Growth Factor Receptor ◽  
Sporadic Case ◽  
Apert Syndrome ◽  
Nasal Bridge ◽  
Craniofacial Dysmorphism ◽  
Fgfr2 Gene ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

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.

scholarly journals The Temporomandibular Joint in a Rheumatoid Arthritis Patient after Orthodontic Treatment

2009 ◽  
Vol 79 (4) ◽  
pp. 804-811 ◽  
Author(s):  
Kenichi Sasaguri ◽  
Rika Ishizaki-Takeuchi ◽  
Sakurako Kuramae ◽  
Eliana Midori Tanaka ◽  
Takashi Sakurai ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Mouth Opening ◽  
Pharmacological Therapy ◽  
Open Bite ◽  
Anterior Open Bite ◽  
Orthodontic Therapy ◽  
Japanese Female ◽  
Severe Erosion ◽  
Old Japanese ◽  
History Of

Abstract A 32-year-old Japanese female patient consulted the authors' dental clinic with a 4.5-year history of rheumatoid arthritis (RA). She complained of pain during mouth opening and difficulty in eating due to masticatory dysfunction caused by an anterior open bite. Imaging showed severe erosion and flattening of both condyles. RA stabilized after pharmacological therapy and became inactive during the orthodontic therapy aimed at reconstructing an optimal occlusion capable of promoting functional repositioning of the mandible. At present, 4 years and 2 months postretention, the reconstructed occlusion remains stable, and both condyles continue to be remodeled. The distance from reference position to intercuspal position has gradually decreased throughout the 4-year posttreatment and postretention periods. Orthodontic therapy that comprehensively reconstructs occlusion and enhances the functioning of the mandible can induce remodeling of eroded condyles, even those with a history of rheumatoid arthritis.

scholarly journals Hyperphosphatemic tumoral calcinosis: a rare differential of periarticular swelling

2020 ◽  
Vol 8 (5) ◽  
pp. 1874
Author(s):  
Sunil Nanjareddy ◽  
Rajashree Paidipatti ◽  
Vishwanath Muttagaduru Shivalingappa ◽  
Nuthan Jagadeesh
Keyword(s):  
Soft Tissue ◽  
Rare Condition ◽  
The Body ◽  
Tumoral Calcinosis ◽  
Greater Trochanter ◽  
X Ray ◽  
Osseous Involvement ◽  
History Of ◽  
Calcium Deposits ◽  
History Of Pain

Tumour calcinosis is a rare clinical and histopathological syndrome characterised by deposition of calcium deposits in different periarticular soft tissue regions of the body. It mainly manifest in childhood/ adolescence as a painless, firm to hard tumour like mass around the joints. Most common regions involved: Shoulder, elbow and hip. An 18 year old male patient presented to the opd with a history of pain and swelling over his left hip since 2 months. On examination, there was a diffuse tender swelling over the left greater trochanter, skin over the swelling was normal with no discharge, no dilated/ engorged veins. Range of motion of left hip was normal, no limb length discrepancies. X-ray: Showed a well define calcified mass over the greater trochanter with no osseous involvement. MRI revealed an encapsulated hypointense mass present posterior to the greater trochanter, mostly in the muscular plane. Lab findings revealed mild hyperphosphetemia. An aspirate from the swelling showed casseousmaterial. En mass removal was done and sent for biopsy. Biopsy showed features suggestive of tumoral calcinosis. Tumoral calcinosis is a distinct clinico-radiopathological entity characterised by soft tissue periarticular calcinosis which mimics a true neoplasm, associated with elevated levels of serum phosphate. It is an extremely rare condition which is seen in the adolescence and requires more studies regarding the surgical and medical management of the same.

Segmental thoracic lipomatosis of nerve with nerve territory overgrowth

2014 ◽  
Vol 120 (5) ◽  
pp. 1118-1124 ◽  
Author(s):  
Mark A. Mahan ◽  
Kimberly K. Amrami ◽  
B. Matthew Howe ◽  
Robert J. Spinner
Keyword(s):  
Peripheral Nerves ◽  
Fatty Infiltration ◽  
Rare Condition ◽  
Spinal Nerves ◽  
Fibrolipomatous Hamartoma ◽  
Scoliotic Deformity ◽  
Lipomatosis Of Nerve ◽  
Thoracic Spinal ◽  
History Of ◽  
Hands And Feet

Lipomatosis of nerve (LN), or fibrolipomatous hamartoma, is a rare condition of fibrofatty enlargement of the peripheral nerves. It is associated with bony and soft tissue overgrowth in approximately one-third to two-thirds of cases. It most commonly affects the median nerve at the carpal tunnel or digital nerves in the hands and feet. The authors describe a patient with previously diagnosed hemihypertrophy of the trunk who had a history of large thoracic lipomas resected during infancy, a thoracic hump due to adipose proliferation within the thoracic paraspinal musculature, and scoliotic deformity. She had fatty infiltration in the thoracic spinal nerves on MRI, identical to findings pathognomonic of LN at better-known sites. Enlargement of the transverse processes at those levels and thickened ribs were also found. This case appears to be directly analogous to other instances of LN with overgrowth, except that this case involved axial nerves rather than the typical appendicular nerves.

scholarly journals Oral findings in patients with Apert Syndrome

2006 ◽  
Vol 14 (6) ◽  
pp. 465-469 ◽  
Author(s):  
Gisele da Silva Dalben ◽  
Lucimara Teixeira das Neves ◽  
Marcia Ribeiro Gomide
Keyword(s):  
Apert Syndrome ◽  
Radiographic Examination ◽  
Class Iii ◽  
Dental Anomalies ◽  
Ectopic Eruption ◽  
Fgfr2 Gene ◽  
High Prevalence ◽  
Ocular Hypertelorism ◽  
Tissue Alterations ◽  
Etiologic Relationship

INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. MATERIALS AND METHODS: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. RESULTS: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. CONCLUSIONS: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.

scholarly journals Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update

2021 ◽  
Vol 3 (2) ◽  
pp. 169-172
Author(s):  
Alejandro Carlos de la Parte-Serna ◽  
◽  
Ricardo Ortega-Soria ◽  
Gonzalo Oliván-Gonzalvo ◽  
◽  
...  
Keyword(s):  
Effective Treatment ◽  
Clinical Case ◽  
Mouth Opening ◽  
Open Bite ◽  
Anterior Open Bite ◽  
Lower Lip ◽  
Dental Prophylaxis ◽  
Pediatric Dentist ◽  
Dental Management ◽  
History Of

Introduction: Oral and dental (OD) disorders in children with Rubinstein-Taybi syndrome (RTS) are frequent but not well-known by dentists and pediatricians due to the syndrome being extremely rare. Objective: To describe the OD findings observed in a 5-year-old girl with RTS and to update the literature. Clinical case: The patient presented the following OD manifestations: prominent lower lip, narrow mouth opening, narrow and arched palate, history of angular cheilitis, micrognathia, poor lingual motility, plaque and tartar, bleeding from gingival areas due to poor dental prophylaxis, and malocclusion in the form of an anterior open bite. These OD manifestations are seen in more than 40-60% of patients with RTS. Conclusions: Professionals who treat children with RTS should become aware of the advisability of referring them to the pediatric dentist from 1 year of age and performing check-ups every 6 months. Dental management is often difficult so collaboration with anesthesiologists is recommended in order to carry out a safe and effective treatment.

scholarly journals Orthodontics First in Hemimandibular Hyperplasia. “Mind the Gap”

2020 ◽  
Vol 17 (19) ◽  
pp. 7087
Author(s):  
Stefania Perrotta ◽  
Giorgio Lo Giudice ◽  
Tecla Bocchino ◽  
Luigi Califano ◽  
Rosa Valletta
Keyword(s):  
Three Dimensional ◽  
Facial Asymmetry ◽  
Torque Control ◽  
Open Bite ◽  
Orthodontic Appliances ◽  
Anterior Open Bite ◽  
History Of ◽  
Orthognatic Surgery ◽  
The University

A 32-year-old man was referred to the Division of Orthodontics of the University of Naples “Federico II”, with a 15-year history of gradually increasing right-sided facial asymmetry. Clinical and radiological examinations was consistent to hemimandibular hyperplasia, a rare developmental asymmetry characterized by three-dimensional enlargement of one-half of the mandible. The standard surgical-orthodontic management was proposed to the patient. However, he refused to undergo bimaxillary orthognatic surgery. Therefore, a different treatment was proposed based on the orthodontic technique of pre-surgical decompensation and post-surgical refinement used in bimaxillary orthognatic surgery planning, and surgical intervention with a condylectomy. The dental arches were evenly levelled out with a multi-bracket treatment and then the condylectomy was performed. Orthodontic treatment continued with a levelling and torque control by 0.19 × 0.25 SS arch and physiotherapy. At the three-month follow-up, the patient showed anterior and posterior bite rebalancing, arch intercuspation recovery, and anterior open bite closure due to muscular self-rebalancing. The two-year follow-up showed regular mandibular dynamic, orthodontic appliances were removed, and the patient was instructed to wear retainer for the following months. The final result was aesthetically reasonable for the patient, although slight asymmetry of the chin persisted.

Dilemma in closing the bite: a case of orthognathic surgery

2020 ◽  
Vol 13 (1) ◽  
pp. 35-40
Author(s):  
Siddharth Mehta ◽  
Abhay T Kamath ◽  
Adarsh Kudva ◽  
G Srikanth ◽  
Arun Urala
Keyword(s):  
Case Report ◽  
Adult Male ◽  
Clinical Relevance ◽  
Orthognathic Surgery ◽  
Open Bite ◽  
Anterior Region ◽  
Anterior Open Bite ◽  
Posterior Crossbite ◽  
Old Adult ◽  
History Of

This case report demonstrates treatment of an open bite case with a history of trauma to the maxillary anterior region in childhood. A 20-year-old adult male presented with a convex profile and significant anterior bite and unilateral posterior crossbite. Surgical bite correction was planned but posed a dilemma in the choice of surgery. CPD/Clinical Relevance: To demonstrate the outcome of a case of skeletal anterior open bite treated with orthognathic surgery.

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