The causative relationship between several of the syndromic forms of craniosynostosis and mutations in the fibroblast growth factor receptor (FGFR) loci is now well established. However, within the ...

Craniosynostosis syndromes are developmental disorders that cause an abnormal shape of the skull due to the premature fusion of cranial sutures. Enormous progress has been made recently in ...

Carpenter syndrome is a rare autosomal recessive disorder characterized by several developmental problems. It belongs to a group of disorders known as Acrocephalopolysyndactyly syndromes. A congenital ...

Researchers at the University of Helsinki in Finland have described a new, recessively inherited human syndrome featuring craniosynostosis, maxillary hyperplasia, delayed tooth eruption, and extra ...

This is a preview. Log in through your library . Abstract Craniosynostosis syndromes are autosomal dominant human skeletal diseases that result from various mutations in fibroblast growth factor ...

A genetic disorder, Jackson-Weiss syndrome (JWS), is marked by specific deformities of the head, facial area, and anomalies of the foot. Symptoms and findings can vary greatly in terms of range and ...

University of Iowa researchers developed a gene therapy that could prevent craniosynostosis, a condition where babies’ skull bones fuse too early, potentially eliminating the need for invasive skull ...