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 ...

during the last 10 years, we have had 11 cases of radioulnar (ru) synostosis, a very rare congenital amomaly of the upper extremity. only 3 of them required surgical intervention. so we evaluated these three cases of proximal radioulnar synostosis corrected by proximal derotational osteotomy. the indication for surgery was severe pronation deformity that caused functional problem. mean age at t...

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 ...

Mutations in genes known to be responsible for most of the recognizable syndromes associated with bilateral coronal synostosis can be detected by molecular testing. The genetic alterations that could cause unilateral coronal synostosis are more elusive. It is recognized that FGFR and TWIST mutations can give rise to either bilateral or unilateral coronal synostosis, even in the same family. The...

PURPOSE: Nonsyndromic craniosynostosis (NSC) has been associated with a greater risk of neurocognitive aberrations such as learning disorders, memory and attention deficits, and visuospatial abilities. Previously, our group has performed resting-state functional MRI (fMRI) studies in patients with sagittal NSC (SSO), and has found altered functional connectivity that may underlie some of the ne...

M oday, Sptem er 6, 2016 CONCLUSIONS: Bitemporal to biparietal ratios are a quantitative, objective clinical measure that can be used to differentiate patients with significant trigonocephaly from those with metopic ridging but no significant cranial deformity. In no case of trigonocephaly did CT scan provide information that would alter surgical planning beyond that obtained from caliper measu...

We report a 15-year-old girl who presented with spinal malsegmentation, associated with other skeletal anomalies. The spinal malsegmentation was subsequently discovered to be part of the spondylocarpotarsal synostosis syndrome. In addition, a distinctive craniocervical malformation was identified, which included atlanto-axial rotatory fixation. The clinical and the radiographic findings are des...

M oday, Sptem er 6, 2016 CONCLUSIONS: Bitemporal to biparietal ratios are a quantitative, objective clinical measure that can be used to differentiate patients with significant trigonocephaly from those with metopic ridging but no significant cranial deformity. In no case of trigonocephaly did CT scan provide information that would alter surgical planning beyond that obtained from caliper measu...