scholarly journals Clinical orofacial and myofunctional manifestations in an adolescent with Noonan Syndrome: a case report

Revista CEFAC ◽  
2020 ◽  
Vol 22 (4) ◽  
Author(s):  
Geciane Xavier Torres ◽  
Emerson de Santana Santos ◽  
Carla Patrícia Hernandez Alves Ribeiro César ◽  
Roxane de Alencar Irineu ◽  
Isabel Ribeiro Rocha Dias ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Disease ◽  
Noonan Syndrome ◽  
Speech Therapy ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
The Face ◽  
Facial Type ◽  
Class Iv

ABSTRACT Noonan syndrome is an autosomal dominant genetic disease with different manifestations, including Speech, Language and Hearing Sciences ones. The authors describe the orofacial and myofunctional manifestations of an adolescent diagnosed with Noonan syndrome, by consulting the Speech, Language and Hearing Sciences record of a 17-year-old male patient, who underwent screening and speech therapy evaluation with a confirmed genetic diagnosis of Noonan syndrome. The results were qualitatively analyzed. The patient had a long facial type, with a disproportion between the lower and middle thirds of the face, ogival palate, and Mallampati class IV. A deficit in mobility and sensitivity of phonoarticulatory organs was also identified, absence of pathological oral and gag reflexes, decreased lip tone and tongue tension, increased speed chewing and inefficient grinding, functional swallowing for assessed consistencies, mild verbal and nonverbal apraxia, and moderate dysarthria. The results confirmed the presence of alterations in the speech-language organs, proving the relevance of the Speech, Language and Hearing Sciences evaluation in Noonan Syndrome, to allow adequate follow-up and treatment.

scholarly journals Primary cutaneous CD4+ small/medium T-cell lymphoma: a case report

2021 ◽  
Vol 22 (4) ◽  
pp. 199-203
Author(s):  
Jeenam Kim ◽  
Minkyoung Jeong ◽  
Dongkeun Jun ◽  
Myungchul Lee ◽  
Donghyeok Shin ◽  
...  
Keyword(s):  
Case Report ◽  
T Cell ◽  
Lymphoproliferative Disorder ◽  
Cell Lymphoma ◽  
Surgical Excision ◽  
Lymphoid Cells ◽  
The Face ◽  
Single Mass ◽  
Histopathologic Findings

Primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder is a rare disease characterized by a single mass on the face or upper part of the trunk. It usually presents an asymptomatic and favorable progression, and its histopathologic findings include small and medium-sized lymphoid cells. The authors report a case of primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder on the forehead. A 51-year-old man presented with a protruding mass on his forehead that the patient had noted 1 month previously. Surgical excision and a permanent biopsy were performed under local anesthesia. Based on the biopsy results, the mass was diagnosed as a primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder. There was no evidence of recurrence at a 15-month follow-up visit.

Rare Association of Klippel Feil Syndrome with Cleft Palate and Congenital Cardiac Deformities: A Case Report

2010 ◽  
Vol 35 (2) ◽  
pp. 213-216 ◽  
Author(s):  
Priya Subramaniam ◽  
KL Girish Babu ◽  
Sony Sugnani
Keyword(s):  
Cardiac Surgery ◽  
Case Report ◽  
Speech Therapy ◽  
Interdisciplinary Approach ◽  
Coarctation Of Aorta ◽  
Short Neck ◽  
Oral Rehabilitation ◽  
Rare Association ◽  
Neck Mobility

Klippel Feil Syndrome comprises of three characteristic deformities of short neck, a low dorsal hair line and restricted neck mobility. This is a case report of Klippel Feil Syndrome and its rare association with cleft of hard and soft palate, coarctation of aorta, dextrocardia and situs inversus. An interdisciplinary approach towards the management included cardiac surgery, cleft repair and complete oral rehabilitation of the patient. Presently the patient is undergoing speech therapy and is under regular follow up.

scholarly journals Fracture of the coronoid and pterygoid processes by firearms: case report

2007 ◽  
Vol 18 (2) ◽  
pp. 168-170 ◽  
Author(s):  
David Moraes de Oliveira ◽  
Ricardo José de Holanda Vasconcellos ◽  
José Rodrigues Laureano Filho ◽  
Rafael Vago Cypriano
Keyword(s):  
Ct Scan ◽  
Speech Therapy ◽  
Clinical Signs ◽  
Mouth Opening ◽  
Parotid Region ◽  
Comminuted Fracture ◽  
3D Ct Scan ◽  
The Face ◽  
The Right

A rare case of fracture of the coronoid and the pterygoid process caused by firearms is described. A 28-year-old male was hit by a bullet in the face, resulting in restricted mouth opening, difficulty in chewing and pain when opening the mouth. Clinical examination revealed a perforating wound in the right parotid region and a similar wound on the left side of the same region. A CT scan showed comminuted fracture of the left coronoid process and bilateral comminuted fracture of the pterygoid processes. Treatment was conservative, speech therapy was conducted and it was successful. Details of the clinical signs, radiology (3D-CT scan), treatment and follow-up are presented.

scholarly journals Progressive symmetrical erythrokeratodermia - Case report*

2013 ◽  
Vol 88 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Bianca de Mello Guaraldi ◽  
Thaís Jerez Jaime ◽  
Rafael de Mello Guaraldi ◽  
Daniel Fernandes Melo ◽  
Osvania Maris Nogueira ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Late Diagnosis ◽  
The Face ◽  
Variable Penetrance

Progressive symmetrical erythrokeratodermia is a rare autosomal dominant genodermatosis with variable penetrance described by Darier in 1911. It is characterized by erythematous and keratotic plaques, sharply defined and symmetrically distributed along the extremities, buttocks and, more rarely, on the face. We report a case of a 55-year-old patient with lesions on the dorsum of the hands, interphalangeal pads, wrists, groin and back feet. This case demonstrates a rare and late diagnosis, clinical profusion and presence of familiar involvement.

P.14.5 METASTATIC CUTANEOUS CROHN'S DISEASE OF THE FACE TREATED WITH INFLIXIMAB: CASE REPORT AND FOLLOW UP

2016 ◽  
Vol 48 ◽  
pp. e195-e196
Author(s):  
E. Peruzzi ◽  
F. Piersimoni ◽  
A. Carella ◽  
A. Giacchetti ◽  
G. Ricotti ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Case Report ◽  
Crohn's Disease ◽  
The Face

scholarly journals Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-8
Author(s):  
Priyanka Kant ◽  
Neelkamal Sharda ◽  
Rahul R. Bhowate
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Type Ii ◽  
Radiological Findings ◽  
Erlenmeyer Flask ◽  
Radiographic Features ◽  
Autosomal Dominant Osteopetrosis

Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.”

scholarly journals Cutaneous manifestations in a patient with temporarily associated pediatric multisystemic inflammatory syndrome with COVID-19: case report

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Alessandra Oliveira ◽  
Kamilla Pádua ◽  
Maria Carolina Alves ◽  
Glaucia Silva ◽  
Fernando Paula ◽  
...  
Keyword(s):  
Case Report ◽  
Reference Value ◽  
Maculopapular Rash ◽  
Cutaneous Manifestations ◽  
The Face ◽  
Hands And Feet ◽  
Inflammatory Syndrome ◽  
Positive Results ◽  
Infectious Condition

OBJECTIVES: To describe the cutaneous manifestations presented by a patient with pediatric multisystemic inflammatory syndrome (MIS-C) temporarily associated with SARS-CoV-2. METHODS: Female patient, 10 years old, presenting arthralgia in the wrists and ankles, edema in hands and feet, persistent fever, appearance of diffuse, and itchy maculopapular rash associated with odynophagia and productive cough. Evolution of the rash to violaceous lesions on the face, trunk and limbs (upper and lower), in addition to the appearance of vesicles on the face, within 48 hours. CBC suggestive of an infectious condition, with CRP 307mg/L (insert reference value) and ESR 61mm. RT-PCR for SARS-CoV-2 positive. RESULTS: Diagnosis of pediatric multisystemic inflammatory syndrome temporarily associated with SARS-CoV2. Transferred to ICU for monitoring and intravenous human immunoglobulin initiated. Good evolution, with the disappearance of injuries and discharge with outpatient follow-up. CONCLUSION: MIS-C has several dermatological manifestations and pediatricians must be attentive to the diagnosis, not limited to a specific presentation. In this case report, the importance of referral to tertiary referral centers for better case management and timely recognition of the syndrome in these patients is emphasized.

scholarly journals Extensive gunshot wound to the face: a case report

2021 ◽  
Author(s):  
Tales Gabriel de Souza Cerioni ◽  
Rafael Jorge Ruman ◽  
Willian Jamil Hassanieh ◽  
Gustavo Rodrigues Manrique ◽  
Wladimir Gushiken de Campos ◽  
...  
Keyword(s):  
Case Report ◽  
Gunshot Wound ◽  
Plate Fixation ◽  
Developed Countries ◽  
Male Victim ◽  
Underdeveloped Countries ◽  
The Face ◽  
The Right ◽  
Mandibular Branch

Facial fractures caused by gunshots are a major challenge for oral and maxillofacial surgeons. Underdeveloped countries present a higher rate of homicides committed by gunshots than developed countries. This case report presents a 25 year-old male victim of a gunshot wound to the mandible, evolving into a complex fracture. The fracture was treated using rigid internal fixation. After 18 months of follow-up, the patient presents good facial appearance and masticatory activity. The gunshot caused the permanent paralysis of the right mandibular branch of the facial nerve. We managed to preserve the involved teeth and mandibular integrity, with complete bone healing. Despite the late infection following plate fixation, healing occurred without further complications, indicating that blood supply was maintained.

scholarly journals Huge B-Cell Lymphoma of the Maxillary Sinus: Case Report and Review of the Litterature

2020 ◽  
pp. 1-2
Author(s):  
Hicham Ngham ◽  
◽  
Lyoubi Hicham ◽  
Keyword(s):  
Case Report ◽  
B Cell ◽  
Maxillary Sinus ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Tumor Stage ◽  
Rare Entity ◽  
External Radiotherapy ◽  
The Face

Primary non-Hodgkin’s lymphoma (NHL) of Paranasal sinus is a rare entity with special characteristics; their locations in the air spaces of the face coming in second row. The prognosis depends on tumor stage and extension into the paranasal sinuses We related the case of a primitive NHL located in the maxillary sinus in a patient of 50 years, invading the entire homolateral nasal cavity. The histopathologic interpretation was B cell lymphoma; the patient received 5 adjuvant chemotherapy treatments according to the CHOP protocol, followed by locoregional external radiotherapy and the evolution was favorable after eighteen months follow-up

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