Skeletal elements have a diverse range of shapes and sizes specialized to their various
roles including protecting internal organs, locomotion, feeding, hearing, and vocalization …

Craniofacial malformations are involved in three fourths of all congenital birth defects in
humans, affecting the development of head, face, or neck. Tremendous progress in the study …

Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many
challenges in classification and treatment. At least 20% of cases are caused by specific …

Strategies to optimize clinical genetic diagnostic pathways by combining both targeted and
next-generation sequencing are discussed. In addition to improved genetic counseling …

Craniosynostosis is a major congenital craniofacial disorder characterized by the premature
fusion of cranial suture (s). Patients with severe craniosynostosis often have impairments in …

Sutures separate the flat bones of the skull and enable coordinated growth of the brain and
overlying cranium. The coronal suture is most commonly fused in monogenic …

Bone and cartilage and their disorders are addressed under the following headings:
functions of bone; normal and abnormal bone remodeling; osteopetrosis and osteoporosis; …

The Wnt1-Cre transgenic mouse line is extensively used in the study of the development of
the neural crest and its derivatives and the midbrain. The Wnt1 gene has important …

OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders
in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis …

Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides
a paradigm for investigating the interplay of genetic and environmental factors leading to …