Alterations in Cranial Shape

<jats:title>Abstract</jats:title> <jats:p>This chapter outlines a practical approach to the diagnosis and management of common human genetic conditions in patients who present with alterations in cranial shape. Alterations in cranial shape are commonly seen in infancy. Occipital flattening from external forces causing compression of the head in utero or during early infancy can lead to posterior plagiocephaly, a term derived from the Greek for “oblique head.” Craniosynostosis, the premature fusion of one or more cranial sutures, also causes altered cranial shape. Based on the symptom, the user is shepherded through a step-by-step approach to a differential diagnosis. Prominent flowchart diagrams graphically depict the diagnostic approach. Recommended laboratory and/or imaging studies are concisely presented. Health supervision and management of the most common conditions associated with each presenting sign or symptom are suggested, where appropriate.</jats:p>