Papillon-Lefevre syndrome • Periodontal disease associated with Papillon-Lefevre syndrome (PLS) affects the primary and permanent dentition. • Keratosis of the palms and soles and the dorsal surfaces and other skin…
Key points • Chromosomal aneuploidies are caused by nondisjunction of chromosomes in meiosis or mitosis. • Down syndrome is caused by trisomy of chromosome 21. • Klinefelter and Turner syndromes…
Cornelia de Lange syndrome • Syndrome is a clinical diagnosis. • Many craniofacial abnormalities include synophrys, long philtrum, and cleft palate. • Limb malformations are seen in these patients, along…
Key points • Many syndromes affecting the central nervous system (CNS) demonstrate both intraoral signs as well as head and neck manifestations. • Their causes include, but are not limited…
Key points • Hamartomas are benign malformations presenting as an excess of normal tissue within the tissue of origin. • Although some syndromes show a clear genetic transmission, the underlying…
Key points • There are over 500 syndromes with clefting as part of the phenotype. • An understanding of sequence is needed to effectively manage patients with clefting disorders. •…
Key points • Branchial arch syndromes present with variable expressivity. • Management necessitates a multidisciplinary approach. • Features corroborate a disorder with first and second branchial arch derivatives. • Treatment…
Key points • Ehlers-Danlos syndromes are a heterogeneous group of disorders characterized by abnormal formation of collagen or molecules related to collagen synthesis, abnormalities in the matrix glycoprotein tenascin, and…
Key points • Genetic alterations can cause physiologic responses resulting in systemic and metabolic complications. • These complications can cause significant deficits, as in Hurler and Williams syndromes, which can…
Key points • Look beyond the primary jaw pathology for clues of syndromic involvement. Observe the skin, and always consider extrafacial skeletal involvement. • Study Gorlin’s Syndromes of the Head…
