Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosa...

Rieger (1935) described two patients with striking anomalies of iris and angle. Each patient had glaucoma associated with hypoplasia of the anterior leaf of the iris, corectopia, and pseudopolycoria. There were iris adhesions both to the posterior surface of the cornea and to posterior embryotoxon, together with mesodermal tissue in the angle (Rieger, 1935). Later a number of systemic abnormali...

Introduction of multidetector computed tomography (MDCT) into daily clinical use has been a breakthrough in the thoracic imaging. It allowed one breathhold scanning of the entire chest, and thin sections made multiplanar and volumetric reconstructions easily available. Initially, the main interest focused on the abdominal aorta and its branches, however, it turned out, that MDCT allows for an e...

Coronary artery anomalies are congenital changes in their origin, course, and/or structure. Most of them are discovered as incidental findings during coronary angiographic studies or at autopsies. A coronary artery fistulae involve a communication between a coronary artery and a chamber of the heart or any segment of the systemic or pulmonary circulation. We present herein the case of a 67-year...

Duane retraction syndrome comprises a group of motility disturbances in which the common feature is co-contraction of medial and lateral rectus muscles on attempted adduction of the involved eye(s). Abnormal clinical features associated with DRS include horizontal deviation in primary position, abnormal head position, retraction of the globe on attempted adduction leading to pseudoptosis, up sh...

The aim of this paper is to describe a unique and unusual case of concomitant appearance of morphological dental anomalies in the maxillary anterior region, along with its management in a patient with no systemic abnormality. This case report describes the clinical and radiographic features of talon cusp, dens invaginatus, shovel-shaped incisors and a supernumerary tooth occurring in a single p...

INTRODUCTION Truncus arteriosus with intact ventricular septum is a rare and unique variant of persistent truncus arteriosus (PTA) which usually presents with central cyanosis and congestive heart failure in neonate and early infancy. Associated cardiac and non-cardiac anomalies may affect morbidity and mortality of these patients. CASE PRESENTATION We describe clinical presentation, echocard...

This white paper describes vascular incidental findings found on CT and MRI of the abdomen and pelvis. Recommendations for management are included. This represents the second of 4 such papers from the ACR Incidental Findings Committee II, which used a consensus method based on repeated reviews and revisions and a collective review and interpretation of relevant literature. Topics include defini...

Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but there has been few reports on genetically confirmed ARS in Korea. We identified a novel PITX2 mutation (c.300_301delinsT) in 2 Korean patients from a family with ARS. We expand the spectrum of PITX2 m...

A case of multiple pulp stones, a supernumerary tooth and a congenitally missing tooth accompanied by several developmental dental anomalies concurrently affecting the upper and lower anterior teeth in an Iranian healthy girl is reported. Developmental tooth abnormalities are usually found in conjunction with certain diseases or conditions. In the present case, although the patient had consangu...