Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Computed tomography has proven useful in children with craniosynostosis for the evaluation of deformity of the skull base, calvarium, and parenchymal brain structures. A retrospective analysis of 24 children seen during a 4-year period who had adequate preoperative, postoperative, and follow-up scans was carried out. Bone windows were used, and both bone thinning adjacent to fused sutures and thickening of affected sutures were demonstrated. Changes in calvarial contour were easily followed. Current trends in craniofacial reconstructive surgery have placed emphasis on skull base abnormalities; these are readily measured on axial computed tomographic (CT) sections, and postoperative progress may be monitored by serial scanning. In addition, new data revealing distortion of brain structures and cerebrospinal fluid pathways in these children have been obtained with CT scans. These soft tissue abnormalities had not been appreciated before the CT era, and they add a new dimension to the evaluation of these disorders. We think that these abnormalities indicate a local pressure increase on the brain at the fusion site. The restoration of parenchymal changes toward normal during the postoperative period correlated well with cosmetic improvement.
 ...
PMID:Craniosynostosis: computed tomographic evaluation of skull base and calvarial deformities and associated intracranial changes. 730 Oct 80

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) is a recently identified neurodevelopmental syndrome which has only 8 reported cases to date since its existence was proposed in 2007. We report a case of CHEDDA syndrome identified in a newborn female with congenital anomalies including Pierre-Robin sequence, arthrogryposis, craniosynostosis, cleft palate, and cardiac abnormalities who subsequently developed epilepsy at 1 month of life. Diagnosis was identified by whole-exome sequencing identifying mutations in a conserved histidine-rich motif within the gene Atrophin-1. Radiologic findings of cerebral atrophy, hypoplasia of the cerebellum, and thinning of the corpus callosum were identified in this patient, consistent with other reported cases. Given the rarity of this condition, we report this case and its findings to increase awareness of CHEDDA syndrome as a possible underlying diagnosis for neonates who present with this constellation of symptoms and radiologic findings.
 ...
PMID:CHEDDA syndrome: a case report and review of the literature for this newly described entity. 3264 15