-P2_330_59ESPE: Nail-Patella syndrome (NPS) or hereditary onycho- osteodysplasia (OMIM: 161200) is an autosomal dominant disorder characterized by nail and elbow dysplasia,

cover story A niridia, a rare panocular developmental disorder, is characterized by either partial or complete hypoplasia of the iris (Figure 1). Other ocular structures

Diminished FAD Binding in the Y459H and V492E Antley-Bixler Syndrome Mutants of Human Cytochrome P450 Reductase*Diminished FAD Binding in the Y459H and V492E Antley-Bixler

untitledCASE REPORTActa Orthop. Belg., 2004, 70, 373-376 Congenital patellar aplasia and hypoplasia are quite rare. Bilateral flexion deformity of the fifth finger, patellar

British Journal of Ophthalmology, 1987, 71, 926-930 Isolated foveal hypoplasia MOSHE D OLIVER,' SHLOMO A DOTAN,' JUAN CHEMKE,2 AND FABIAN A ABRAHAM' From the

The surgical anatomy of hypoplasia of aortic tract complexThe surgical anatomy of hypoplasia of aortic tract complex The surgicalanatomy of 230 hearts with hypoplasia of

Hypoplasia of the ischiopubic region is described in four patients. An adolescent was referred for spinal dysraphism and scoliosis, another one for bilateral aplasia of the

Localising patterns of optic nerve hypoplasia-retina to occipital lobe P NOVAKOVIC,' D S I TAYLOR,' AND W F HOYT2 From the 'Department of Ophthalmology, the

Renal hypoplasia | Page 1 About the urinary system and urine The urinary system gets rid of things that the body no longer needs, so that we can grow and stay healthy. The

INTRODUCTION Portal vein hypoplasia (PVH), also known as pri- mary PVH without portal hypertension, microvascu- lar hepatic dysplasia or hepatoportal microvascular dysplasia