BACKGROUND Developmental delay has been reported to occur with optic nerve hypoplasia, a leading cause of pediatric blindness, but has not been systematically examined for its prevalence and correlation with associated pathologies of optic nerve hypoplasia. OBJECTIVE The purpose of this study was to determine the developmental outcomes of children with optic nerve hypoplasia and the correlati...

Accurate diagnosis of subtypes of transverse sinus (TS) hypoplasia requires more expensive methods like magnetic resonance (MR) imaging. We hypothesized ultrasound findings of the internal jugular vein (IJV) can be surrogate indicators for diagnosis of TS hypoplasia. MR images were reviewed in 131 subjects to evaluate TS diameter and the location and degree of venous flow stenosis and obstructi...

Bilateral renal agenesis/hypoplasia/dysplasia is a lethal malformation in humans with an incidence of 1.3 per 10,000 live births. In the etiology bilateral agenesis/hypoplasia/dysplasia, genetic factor plays important role. addition to factors, also involves teratogenic effect hyperglycemia on embryo mothers insulin-dependent maternal diabetes. The purpose this paper present special case which ...

Interactions among the forebrain, neural crest and facial ectoderm regulate development of the upper jaw. To examine these interactions, we activated the Sonic hedgehog (SHH) pathway in the brain. Beginning 72 hours after activation of the SHH pathway, growth within the avian frontonasal process (FNP) was exaggerated in lateral regions and impaired in medial regions. This growth pattern is simi...

Three additional patients, including a father and daughter, with spondyloepimetaphyseal dysplasia and multiple dislocations are presented. This is the first report of dominant inheritance, with variable intrafamilial expressivity of this disorder. All patients showed facial dysmorphism with a short, broad, upturned nose. There were striking epiphyseal and metaphyseal changes of the long bones a...

Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. We characterized these two variants clinically, with the aim of establishing clinical criteria to enhance the differential diagnosis between them or other similar conditions. The freque...