{Reference Type}: Case Reports
{Title}: Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.
{Author}: Tupper A;Devi K P;Rahul M;Tewari N;
{Journal}: BMJ Case Rep
{Volume}: 17
{Issue}: 2
{Year}: 2024 Feb 14
暂无{DOI}: 10.1136/bcr-2023-257659
{Abstract}: Goltz-Gorlin syndrome is a rare X-linked inherited disorder associated with PORCN (porcupine homolog-Drosophila) gene mutation. It primarily affects the skin and its appendages. The characteristic cutaneous features include a blaschko-linear pattern, skin atrophy, pigmentary changes, and telangiectasia. The oral manifestations have been reported in more than half of the affected individuals. The most common oral findings include enamel hypoplasia, hypodontia, supernumerary teeth, microdontia, vertical grooving of the teeth, taurodontism, fusion, and abnormal root morphology reported in sporadic cases. The objective of this case report is to describe the dentofacial characteristics of a middle childhood aged girl with Goltz-Gorlin syndrome.