BACKGROUND Congenital radioulnar synostosis is a rare malformation of the upper limb, with functional limitations of the limb. CASE REPORT A 10-year-old child with pain and restricted mobility of the elbow joint was admitted to the hospital. Plain film radiography and CT examination was performed. Radiological examinations showed a congenital radioulnar synostosis. The child underwent surgica...

Apert syndrome (AS) is one of at least nine disorders considered members of the fibroblast growth factor receptor (FGFR) -1, -2, and -3-related craniosynostosis syndromes. Nearly 100% of individuals diagnosed with AS carry one of two neighboring mutations on Fgfr2. The cranial phenotype associated with these two mutations includes coronal suture synostosis, either unilateral (unicoronal synosto...

a tower or steeple. Hence such a skull is often called a tower skull or steeple head. The supra-orbital ridges are low and feebly marked, and the hairy scalp begins at a high level. The eyes which are unduly prominent (exophthalmos) are set far apart (hypertelorism and are often divergent. The arch of the hard palate is also high and narrow, and there may be a varying degree of prognathism. Som...

OBJECTIVE Posterior vault remodeling by distraction osteogenesis is a relatively new technique used for initial correction of turribrachycephaly in children with bicoronal craniosynostosis. We present a new potential complication from this procedure; a case of pan-suture synostosis subsequent to posterior vault distraction. METHODS We report an infant girl who presented with bicoronal synosto...

CONGENITAL fusion of two or more bones of the tarsus is referred to as tarsal coalition and affects some 2% of individuals. All forms of coalition from involvement of two adjacent bones to massive tarsal fusion have been recorded. Tarsal fusion was well recognised by anatomists long before attention was drawn to its clinical significance. Slomann (1921) and Badgley (1927) were first to describe...

BACKGROUND The premature fusion of one cranial suture, also referred to as non-syndromic craniosynostosis, most commonly involves premature fusion of the sagittal, coronal, or metopic sutures, in that order. Population-based epidemiological studies have found that the birth prevalence of single-suture craniosynostosis is both suture- and sex-dependent. METHODS Transcriptomic data from 199 ind...

Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...

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 Contracted valgus flat foot in the adolescent is frequently caused by tarsal synostosis or synchondrosis. These synostoses are prevalently symptomatic during adolescence, when by ossifying they block the subtalar joint in valgus. Careful and detailed examinations might reveal additional abnormalities. CASE PRESENTATION A 16-year-old boy of Austrian origin presented with contracted ...