A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously des...

Tricuspid atresia (TAt) is a complex congenital heart defect (CHD) characterized by the absence of the tricuspid valve and right ventricular hypoplasia requiring surgery in childhood, the Fontan procedure. We present a case of a 21-year-old male with TAt and cystic fibrosis (CF), who underwent a Fontan procedure in childhood, presenting to an adult CF clinic with severe deterioration in his res...

Dexamethasone (Dex) treatment during a critical period of lung development causes lung hypoplasia in infant rats. However, the effects of Dex on the pulmonary circulation are unknown. To determine whether Dex increases the risk for development of pulmonary hypertension, we treated newborn Sprague-Dawley rats with Dex (0.25 microg/day, days 3-13). Litters were divided equally between Dex-treated...

OBJECTIVE To report on the use of sildenafil for pulmonary hypertension treatment of a newborn patient after cardiac surgery. DESCRIPTION A female, full term newborn infant with diagnosis of double outlet right ventricle, pulmonary hypoplasia and subaortic ventricular septal defect, was submitted to Blalock surgery in the first week of life. In postoperative the newborn had pulmonary hyperten...

Objective: To describe cardiac tomography findings of an apparently new, presumably congenital, left ventricular (LV) abnormality noted consistently in three patients. Patients: Three patients presenting with non-specific symptoms including fatigue, shortness of breath, or chest discomfort were evaluated with cardiac tomography for cardiac structure and function. Results: Findings from the thre...

The malformed heart to be described was removed at necropsy from a 9-day old Bantu infant, and sent to the Department of Anatomy for study. Unfortunately neither the clinical nor necropsy records could subsequently be traced and the only information available was that the cause of death was thought to be partial atelectasis. The main vessels branching off the arterial trunk were identified for ...

OBJECTIVE To describe cardiac tomography findings of an apparently new, presumably congenital, left ventricular (LV) abnormality noted consistently in three patients. PATIENTS Three patients presenting with non-specific symptoms including fatigue, shortness of breath, or chest discomfort were evaluated with cardiac tomography for cardiac structure and function. RESULTS Findings from the thr...

Two siblings are described with clinical features of the Joubert-Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.