The expectoration of blood originating from the lower respiratory tract, called hemoptysis, is a common clinical condition with many potential etiologies. Massive hemoptysis is life threatening and needs urgent intervention. Multidetector computed tomography (MDCT) is a useful non-invasive imaging modality for the initial assessment of hemoptysis. Using MDCT with multiplanar reformatted images ...

OBJECTIVE In the present study, it is describe the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities. STUDY DESIGN Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral explo...

An infant with trisomy 8 mosaicism had bilateral corneal opacities and multiple systemic anomalies. A review of the literature suggests that corneal opacities are a prominent feature of the syndrome and may have substantial clinical and diagnostic importance.

Congenitally corrected transposition of the great arteries (CCTGA) is a rare congenital heart disease characterized by atrioventricular (AV) and ventriculo-arterial discordance;(1) that is, the left ventricle supports the pulmonary circulation and the right ventricle supports the systemic circulation. The most common cardiac anomalies in CCTGA include ventricular septal defect, pulmonary outflo...

RATIONALE Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES The patient was diagnosed as ARS with retinal detachment based on...

The lacrimal system is comprised of the lacrimal glands for tear production and the lacrimal drainage system for draining tears away from the eyes. Congenital lacrimal system anomalies other than nasolacrimal duct obstruction are uncommon. Congenital lacrimal fistulae are a rare developmental anomaly, and when they occur, they are usually unilateral. Fistulae and diverticulae can originate from...

Congenital thoracic vascular anomalies include embryologic developmental disorders of the thoracic aorta, aortic arch branch arteries, pulmonary arteries, thoracic systemic veins, and pulmonary veins. Diagnostic evaluation of these anomalies in pediatric patients has evolved with innovations in diagnostic imaging technology. State-of-the-art magnetic resonance (MR) imaging, MR angiography multi...

A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves...

We present a woman having congenital anomalies of the inferior vena cava and partial anomalous pulmonary venous return from the right lung with atrial septal defect in a 38-year-old. Congenital anomalies of inferior vena cava are rare. They are seen more often in young males. If there are not other anomalies, they are latent for a long time. Peripheral venous thrombosis, chronic venous insuffic...

With the introduction of new surgical procedures an the development of new techniques of cardiac imaging, the normal anatomy, variations and anomalies of coronary arteries have assumed new significance. The coronary arteries may present several variations, in terms of both number and position. The incidence of all coronary anomalies is 0.23% in autopsy series and ranges between 0.3% and 12% in ...