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A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.
Am J Med Genet A
January 2025
Department of Pulmonology, Children's Hospital of Zhejiang University School of Medicine & National Clinical Research Center for Child Health, Hangzhou, China.
Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant genetic disorder characterized by specific clinical features, including dysmorphic facial traits, congenital heart defects, skeletal abnormalities, joint issues, and failure to thrive. The novelty of this case lies in the identification of a novel mutation in the ABL1 gene, expanding the genetic spectrum associated with this syndrome. A 5.
View Article and Find Full Text PDFClinical Diagnosis and Management Challenges of Harlequin Ichthyosis in a Preterm Neonate: A Case Report From Uganda.
Case Rep Dermatol Med
January 2025
Department of Dentistry and Oral Health, Amana Regional Referral Hospital, Ministry of Health, Dar es Salaam, Tanzania.
Harlequin ichthyosis is a rare autosomal recessive genetic disorder resulting from mutations in the gene. It is marked by distinctive skin abnormalities, including armor-like thickened scales separated by deep fissures. This condition is infrequently reported in the African population.
View Article and Find Full Text PDFSuccessful Diagnosis and Management of Superior Orbital Fissure Syndrome Secondary to Lung Adenocarcinoma: A Case Report.
Cancer Manag Res
January 2025
Department of Radiotherapy, Liaocheng Hospital Affiliated to Shandong First Medical University (Liaocheng People's Hospital), Liaocheng, Shandong, People's Republic of China.
Introduction: Superior orbital fissure syndrome (SOFS) is a rare condition that involves damage to multiple structures within the superior orbital fissure, often caused by trauma, inflammation, or tumors. Lung adenocarcinoma, known for its propensity to metastasize, can lead to orbital metastases, which can manifest as SOFS. This case underscores the diagnostic and therapeutic challenges associated with such rare metastatic presentations.
View Article and Find Full Text PDFClinical presentation and management of Tolosa-Hunt syndrome: a case report.
J Pak Med Assoc
January 2025
Department of Ophthalmology and Visual Sciences, Dow University of Health Sciences, Karachi, Pakistan.
Tolosa-Hunt Syndrome (THS) is an exceptionally rare disorder characterised by recurrent episodes of excruciating ophthalmoplegia, commonly affecting one side of the face and involving the third, fourth, sixth, and fifth cranial nerves. This syndrome results from non-specific inflammation affecting the cavernous sinus, superior orbital fissure (SOF), and/or orbital apex. In this case report, we present the clinical features, diagnostic evaluation, and management of a 46-year-old female with THS.
View Article and Find Full Text PDFUpper and lower eyelid contour and positional changes after deep skin grafts in ablepharon macrostomia syndrome.
Orbit
January 2025
Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
Ablepharon macrostomia syndrome is a rare congenital disorder caused by autosomal-dominant mutations. This condition is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and underdevelopment of the both upper and lower eyelids. The shortening of the anterior lamella, septum and levator aponeurosis lead to a severe corneal exposure within the first hours of life.
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