PURPOSE: While modern research on coronal craniosynostosis has vastly widened our breadth of knowledge regarding treatment of the condition, the mechanism underlying the development of the deformity remains uncovered and largely uninvestigated. This study evaluates midface and skull base development in nonsyndromic unilateral coronal synostosis (UCS), focusing on zygomatic and cranial base anat...

crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity. its most notable characteristic feature is premature synostosis of cranial sutures the case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndrome after c...

Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with a...

BACKGROUND Sacrum is a triangular bone placed in the base of the spine and formed by the synostosis of five sacral vertebrae (S1-S5). Its upper part is connected with the inferior surface of the body of L5 vertebra forming the lumbosacral joint, while its lower part is connected with the base of the coccyx forming the sacrococcygeal symphysis, an amphiarthrodial joint. The existence of four pai...

Congenital radioulnar synostosis, which is caused by fusion between the proximal end of the radius and ulna, is an uncommon deformity of the upper extremity. It is characterized by the forearm being fixed in some degree of pronation and patients present with a variety of functional limitations of the involved limb. This condition may lead to difficulties in daily activities, such as writing, ea...

Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a "Klinefelter variant." Because of distinct cli...

BACKGROUND Unilateral coronal synostosis (UCS) often causes notable facial twist in affected patients. This condition occurs when the midface deviates toward the synostotic side, and the lower face deviates away from the synostotic side. The exact underlying mechanism for this phenomenon remains unclear. It has been proposed that premature fusion of facial sutures may play a role in the formati...

Craniosynostosis is a disease defined by premature fusion of one or more cranial sutures. The mechanistic pathology of single-suture craniosynostosis is complex and while a number of genetic biomarkers and environmental predispositions have been identified, in many cases the causes remain controversial and inconclusive. In this study, gene expression data from 199 patients with isolated sagitta...

BACKGROUND Congenital proximal radioulnar synostosis is the most common congenital disease of the elbow joints and forearms. METHODS This was a prospective study of 12 consecutive children (14 forearms) who presented to the National Institute of Neuromotor System in Egypt between September 2012 and September 2013 with severe congenital proximal radioulnar synostosis, having a mean pronation d...