Facial deformity in Crouzon syndrome is characterized by exophthalmos, exorbitism, mild hypertelorism, and maxillary hypoplasia with a Class III occlusion. The Göteborg craniofacial unit corrects this deformity in selected patients by the 2-stage procedure of "spectaclesplasty" followed by a Le Fort I maxillary osteotomy at skeletal maturity. "Spectacles" is a reference to the bilateral circumf...

BACKGROUND Multiple epiphyseal dysplasia (MED) is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms. CASE PRESENTATION We report on a 27-year-old male patient suffering from clinical symptoms of autosom...

COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. In this study we assessed 86 patients (36 male, 50 female; mean age 13.3 years; range, 0.6 to 54 years) with COL1A1 haploinsufficiency mutations, of whom 70 were aged 21 years or less (...

INTRODUCTION Severe pectus excavatum (PE) is a deep chest wall deformity that generates both a cosmetic damage and a cardiac/respiratory function impairment. Excluding the scarce reports on Marfan's syndrome (MFS) and Ehlers-Danlos's syndrome (EDS), few studies have examined the relation between severe PE and connective tissue disorders. The aim of this study is to verify the clinical significa...

spine surgery began its evolution in the beginning of the 19th century in order to reach nowadays the point of being considered an important subspecialty of neurosurgery and orthopaedics. the purpose of this historical review is the search and evaluation of the progress in spine surgery until the middle of the 20th century. this review concerns the inauguration and evolution of this field in gr...

background: to determine the most important preoperative factors that affect postoperative coronal parameters of scoliotic curves.   methods: all adolescent idiopathic scoliosis (ais) patients included in the study were classified according to lenke and king classification. the fusion levels were selected according to the rigidity of the existing curves (correction less than 50%), tilt of t1 an...

Schizencephaly or split brain is an uncommon congenital disorder of cerebral cortical development, belonging to the group cell migration defects. It characterized by presence a cleft in extending from surface piamater ventricles. A 21-year-old primigravida at 19+2 weeks gestation was referred our Outpatient department with level-2 ultrasound done 18+2 suggestive schizencephaly. First trimester ...

INTRODUCTION  macroglossia is a condition which influences the size and shape of the teeth employed due to the forces on teeth. OBJECTIVE  To establish bases for the indication of partial glossectomy associated with orthodontic treatment and surgical dento-facial deformity in patients without tumors and Down syndrome as a cause of macroglossia. CASE REPORTS  Three patients underwent orthogn...

Canadian orthodontists were surveyed by mail to determine the latest skeletal age at which they would recommend orthopedic therapy and orthognathic surgery and the earliest at which they would recommend orthognathic surgery. For the purposes of this introductory study, orthopedic therapy implied stimulation of physiologic response using appliance force, without specification of appliance type. ...

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation syndrome with the main features cardiac defects, postaxial hexadactyly, mesomelic shortening of the limbs, short ribs, dysplastic nails and teeth, oral frenula and various other abnormalities while mental function is normal. We describe 2 adult EvC patients with the cardinal skeletal features of mesomelic short stature ...