Publications by authors named "Heinrich Wagener"
Article Synopsis
- Craniosynostoses involve the premature fusion of skull sutures, with syndromic types often linked to mutations in the Fibroblast Growth Factor Receptors (FGFR) 1-3; this study explores both isolated and syndromic cases focusing on genetic findings.
- Mutation analysis targeted specific exons of FGFR genes in DNA from patients, revealing one case with a mutation in FGFR3 linked to a family member and confirming Crouzon's syndrome in two others through genetic testing.
- The study concludes that isolated craniosynostoses are generally less connected to FGFR mutations compared to syndromic types, emphasizing the need to evaluate family members for minor signs that may indicate genetic
Aim: To investigate the phenotypical expression of an identical mutation of the CBFA1/RUNX2 gene within a family with cleidocranial dysplasia.
Patients And Method: A five-member family underwent clinical examination. Two members, father and son, showed dissimilar symptoms of cleidocranial dysplasia.