Hypertelorism and orbital dystopia

Orbital hypertelorism is defined as an abnormally wide distance between the orbits. It is a physical finding often associated with other cranial and facial malformations. Orbital dystopia refers to an abnormal position or shape of the orbits. These orbital abnormalities can be associated with visual problems including amblyopia, astigmatism, squints, and loss of vision. Patients are managed by a multidisciplinary team.

Sister Mary Joseph’s Nodule: An important Physical Finding.

Background: Sister Mary Joseph’s nodule is a rare but important physical finding as it is a sign of an advanced stage of malignancy.Case presentation: This is a case of an apparently clinically well but immunodeficient 62-year- old African woman whose main complaint was an enlarging violaceous discharging umbilical nodule. A focused history and physical examination complemented by an abdominal computerized tomography (CT) scan was suggestive of an umbilical cutaneous manifestation (Sister Mary Joseph’s nodule) of an underlying disseminated ovarian malignancy. This was confirmed histologically by an excision biopsy of the umbilical nodule.Conclusions: Sister Mary Joseph’s nodule is an important differential diagnosis for an umbilical nodular lesion as it is a sign of advanced malignancy with a generally poor prognosis.

Delayed Diagnosis of Unilateral Mandibular Condylar Fracture in a Posterior Edentulous Patient

Background. Fractures of the mandible are common in elderly patients, and among them, condylar fractures are the most frequent type. A change in occlusion is the most common physical finding in patients with fractures of the mandible. Therefore, it is challenging to identify mandibular fractures in posterior edentulous patients due to the lack of posterior occlusal contacts. It is crucial to do radiological investigations in such patients to exclude fractures. Case Presentation. This article describes a case of delayed diagnosis of a unilateral mandibular condylar fracture for a week’s duration and treating the condition as temporomandibular pathology in a posterior edentulous, 52-year-old patient. Conclusion. This clinical case highlights the importance of radiological investigations and occlusal analysis for early diagnosis of condylar fractures, particularly in posterior edentulous patients, lacking posterior occlusal contacts.

A study on clinical profile of typhoid fever at Government General Hospital, Nizamabad, Telangana, India

Background: The disease is most common in India. Children are most commonly affected. Typhoid fever, also known simply as typhoid, is a bacterial infection due to specific type of Salmonella that causes symptoms.Methods: Prospective observational study, 100 children with fever more than 7 days attending pediatric departed at GGH, Nizamabad were included in this study.Results: Total 100 children included in this study, male were 62, female were 38. More cases were (43) in 5-10 years age group, 53 children, belongs to middle class, 30 children belongs to lower class and 17 children belongs to upper class. Most common physical finding was toxic look (52), fallowed by coated tongue (41), hepatomegaly (32), pallor (12), spleenomegaly (11), hepatospleenomegaly (8).Conclusions: Safe drinking water, hand washing, proper sanitation, health education to children and food handlers in schools and hostels will decrease the incidence of typhoid fever in children.

Paediatric hearing loss: a community-based survey in peri-urban Kumasi, Ghana

BackgroundPaediatric hearing loss rates in Ghana are currently unknown.MethodsA cross-sectional study was conducted in peri-urban Kumasi, Ghana; children (aged 3–15 years) were recruited from randomly selected households. Selected children underwent otoscopic examination prior to in-community pure tone screening using the portable ShoeBox audiometer. The LittlEars auditory questionnaire was also administered to caregivers and parents.ResultsData were collected from 387 children. After conditioning, 362 children were screened using monaural pure tones presented at 25 dB. Twenty-five children could not be conditioned to behavioural audiometric screening. Eight children were referred based on audiometric screening results. Of those, four were identified as having hearing loss. Four children scored less than the maximum mark of 35 on the LittleEars questionnaire. Of those, three had hearing loss as identified through pure tone screening. The predominant physical finding on otoscopy was ear canal cerumen impaction.ConclusionPaediatric hearing loss is prevalent in Ghana, and should be treated as a public health problem warranting further evaluation and epidemiology characterisation.

Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide

A 70-year-old female presented with a three-year history of evolving macroglossia causing dysphagia and dysarthria, with proximal muscle weakness. Given the classic physical finding of macroglossia, the patient underwent extensive evaluation for amyloidosis which proved to be negative apart from a bone marrow biopsy which stained positive for transthyretin without amino acid sequence abnormality, thus giving wild-type transthyretin amyloidosis. Since the wild-type transthyretin amyloidosis could not entirely explain her clinical presentation and evaluation, further studies were conducted in a sequential manner, thus leading to a diagnosis of Pompe disease explaining her presenting signs and symptoms including her macroglossia. Through this fascinating case, we attempt to highlight the approach for the diagnoses of two rare diseases in a patient by emphasizing the importance of having a broad differential diagnosis when presented with findings which may have been thought as pathognomonic for certain diseases.

Biceps-Related Physical Findings Are Useful to Prevent Misdiagnosis of Cervical Spondylotic Amyotrophy as a Rotator Cuff Tear

<sec><title>Study Design</title><p>Case–control study.</p></sec><sec><title>Purpose</title><p>The aim of the present study was to identify physical findings useful for differentiating between cervical spondylotic amyotrophy (CSA) and rotator cuff tears to prevent the misdiagnosis of CSA as a rotator cuff tear.</p></sec><sec><title>Overview of Literature</title><p>CSA and rotator cuff tears are often confused among patients presenting with difficulty in shoulder elevation.</p></sec><sec><title>Methods</title><p>Twenty-five patients with CSA and 27 with rotator cuff tears were enrolled. We included five physical findings specific to CSA that were observed in both CSA and rotator cuff tear patients. The findings were as follows: (1) weakness of the deltoid muscle, (2) weakness of the biceps muscle, (3) atrophy of the deltoid muscle, (4) atrophy of the biceps muscle, and (5) swallow-tail sign (assessment of the posterior fibers of the deltoid).</p></sec><sec><title>Results</title><p>Among 25 CSA patients, 10 (40.0%) were misdiagnosed with a rotator cuff tear on initial diagnosis. The sensitivity and specificity of each physical finding were as follows: (1) deltoid weakness (sensitivity, 92.0%; specificity, 55.6%), (2) biceps weakness (sensitivity, 80.0%; specificity, 100%), (3) deltoid atrophy (sensitivity, 96.0%; specificity, 77.8%), (4) biceps atrophy (sensitivity, 88.8%; specificity, 92.6%), and (5) swallow-tail sign (sensitivity, 56.0%; specificity, 74.1%). There were statistically significant differences in each physical finding.</p></sec><sec><title>Conclusions</title><p>CSA is likely to be misdiagnosed as a rotator cuff tear; however, weakness and atrophy of the biceps are useful findings for differentiating between CSA and rotator cuff tears to prevent misdiagnosis.</p></sec>

A Cross-Sectional Assessment of Cutaneous Lumbosacral and Coccygeal Physical Examination Findings in a Healthy Newborn Population

Objective. The purpose of this study is to describe the range and frequency of cutaneous lumbosacral and coccygeal findings encountered during the newborn examination in a population of apparently healthy babies, to determine if the prevalence of these findings is associated with race/ethnicity, and to report the frequency of co-occurrence of low-risk cutaneous findings. Methods. Lumbosacral physical findings of 1121 infants were documented on well newborns at least 35 weeks or greater gestational age under the authors’ care. The overall frequency of each physical finding was tabulated in addition to determining whether frequencies varied by race/ethnicity. Co-occurrence of the most common physical findings was also examined. Results. Of 1096 infants included in the study, 24.8% had deviated or duplicated gluteal creases, 15.6% had dimples, and 24.7% had lumbosacral and/or coccygeal hairiness. All racial/ethnic groups had double to quadruple the risk of lumbosacral hair when compared with Caucasians. A total of 44.1% of study infants had lumbosacral/coccygeal slate-grey patches, which were least common in Caucasians. Seven infants had coccygeal skin tags, and 14 infants had lumbosacral vascular macules. Thirty-one percent had more than 1 cutaneous lumbosacral finding present, 24.8% had 2 findings, and 6.2% had 3 or more findings. Conclusion. Coccygeal dimples, increased lumbosacral and/or coccygeal hair, deviations and/or duplications of the gluteal crease, and lumbosacral slate-grey patches are common in healthy newborns and vary by race/ethnicity. Eleven percent of study infants had 2 or more low-risk cutaneous findings excluding slate-grey patches. Distinction between low-risk and common versus high-risk findings is important when deciding which patients need further evaluation.