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Endoscopic endonasal dacryocystectomy.
Am J Ophthalmol Case Rep
March 2025
Govindram Seksaria Institute of Dacryology, L.V. Prasad Eye Institute, Hyderabad, India.
Purpose: To report an exceptionally rare instance of Endoscopic endonasal dacryocystectomy.
Observations: Dacryocystectomy (DCT), a procedure of surgical extirpation of the lacrimal sac is normally approached by an external route. However, an endoscopic endonasal approach DCT is rare and usually reserved in cases where intellectual disabilities of a patient become a restrictive factor in maintenance of a healthy external wound.
A physiotherapeutic approach to a baby with right disgenesis of thumb and left agenesis of upper extremity: A case report.
Prosthet Orthot Int
January 2025
Ida Orthopedics, Istanbul, Turkey.
A boy with bilateral congenital anomalies of the upper extremities with transverse absence of the left arm (agenesis) and absence of right thumb (disgenesis), fixed elbow in extension due to humeroradial synostosis thought that the humerus was intact. His wrist could move passively with 50° flexion, 0° extension, and 70° radial deviation. The other 4 fingers were intact, 4-5 metatarsal bones were in synostosis, and the fifth finger was clinodactyly.
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.
View Article and Find Full Text PDFThoracoscopic Lobectomy for Right Upper Bronchial Atresia Combined With an Azygos Lobe of the Right Lower Lobe in an Infant Patient: A Case Report of a Rare Condition.
Asian J Endosc Surg
January 2025
Department of Pediatric Surgery, Research Field in Medical and Health Sciences, Medical and Dental Area, Research and Education Assembly, Kagoshima University, Kagoshima, Japan.
Bronchial atresia (BA) and azygos lobe (AL) are rare congenital pulmonary abnormalities in pediatric patients. We herein report an infantile case of BA combined with AL that was treated with thoracoscopic surgery. The patient was an 8-month-old boy who was preoperatively diagnosed with BA of the right upper lobe (RUL) combined with an AL using fetal magnetic resonance imaging and postnatal enhanced computed tomography.
View Article and Find Full Text PDFA family with an atypical presentation of TBX3-related disorder.
Eur J Med Genet
January 2025
Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, The Technion, Haifa, Israel. Electronic address:
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
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