Objective: To identify congenital malformations of temporal bone and more particularly the inner ear in DiGeorge syndrome. Methods: We conducted a retrospective study from January 2003 to December 2011 at Rouen University Hospital. Temporal bone Computed tomography (CT) images of 13 patients with genetically confirmed DiGeorge syndrome were extracted from the database and systematically reviewe...

A 16-year-old girl was seen by a local ophthalmolog ist because of diplopia and fullness of the right eye. Exam ination revealed visual acuity of 20/20 in both eyes with a 2-3 mm proptosis of the right eye. The right eye was also displaced downward with restri c tion of upward gaze and redness of the right canthus. There was a machineli ke bruit over the right eye and a thrill over the right su...

External genitalia are found in each of the major clades of amniotes. The phallus is an intromittent organ that functions to deliver sperm into the female reproductive tract for internal fertilization. The cellular and molecular genetic mechanisms of external genital development have begun to be elucidated from studies of the mouse genital tubercle, an embryonic appendage adjacent to the cloaca...

we report an unusual case of hemimegalencephaly (hmg) associated with ipsilateral congenital-infiltrating lipomatosis of the face in a five-month-old boy. hemimegalencephaly is a rare but unique malformation characterized by enlargement of all or parts of a cerebral hemisphere. the affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria...

gastrointestinal (gi) bleeding in pediatric patients has several causes. vascular malformation of the small bowel is a rare disease leading to pediatric gi bleeding. to our knowledge, few reports describe ultrasound and computed tomography findings of venous malformations involving the small bowel. we present a case of long-segmental and circumferential vascular malformation that led to gi blee...