the sturge-weber syndrome or encephalotrigeminal angiomatosis is a rare neurological and congenital disorder with a frequency of 1 in 50,000 births. this syndrome is a nonhereditary developmental condition and is characterized by the presence of congenital capillary malformation and a hamartomatous vascular proliferation involving the face (port-wine stain or facial birthmark), sometimes skull ...

abstract horseshoe lung is a congenital pulmonary malformation that is usually associated with scimitar syndrome. this malformation consists of fusion of both pulmonary lobes from the posterobasal segments. the fusion appears in the retrocardiac area, in front of the esophagus and thoracic aorta. pleural separation of pulmonary lobes distinguishes pseudohorseshoe appearance from a true horsesho...

We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and ...

OBJECTIVE We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. STUDY DESIGN Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated fo...

In recent years the diagnosis of congenital cystic disease of the lung has been clarified and restricted as a result of the recognition of a variety of emphysematous and cystic lesions of diverse etiologies. True cystic disease is rare.1 Rarer still is the closely related condition first reported in 1897 by Stoerk as " cystic fetal bronchial adenoma, " 2 and introduced in the English language m...

We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case wit...

Quadricuspid aortic valve is a rare congenital malformation of the heart leading to significant aortic regurgitation or stenosis. Its diagnosis by transthoracic echocardiography is difficult. Most of the cases are diagnosed during surgery or autopsy. Associated abnormalities of the coronary arteries should also be searched, since surgical injury may have devastating results. We herein present a...

Direct insertion of the anterior papillary muscle (DPM) into the mitral valve is uncommon. During the routine dissection of an adult female, a DPM into the mitral valve with abnormal chordae tendinae was observed. This abnormal papillary muscle was measured as 28.0 mm in length from myocardial to insertion, 14.8 mm in width, and 7.0 mm in depth. The embryology, symptoms, associated cardiac dise...

Radiol Bras. 2017 Mai/Jun;50(3):199–208 202 congenital anomalies, such as congenital heart disease and gastrointestinal anomalies. The prenatal diagnosis is based on identification of this pattern of malformation in imaging studies. Sirenomelia is considered a primary developmental field defect affecting multiple midline primordia. In the case reported here, MRI allowed us to make the diagnosis...