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Dentofacial characteristics in a child with Meier–Gorlin syndrome: A rare case report
Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The other associated clinical features may include developmental delay, congenital pulmonary emphysema, gastro-esophageal reflux, urogenital anomalie...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011216/ https://www.ncbi.nlm.nih.gov/pubmed/29942112 http://dx.doi.org/10.1016/j.sdentj.2018.04.004 |
Sumario: | Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The other associated clinical features may include developmental delay, congenital pulmonary emphysema, gastro-esophageal reflux, urogenital anomalies, such as cryptorchidism and feeding problems. The facial characteristics during childhood are typical, comprising of a small mouth with full lips and micrognathia/retrognathia. The condition is rare affecting about one to nine individuals per million. Mutation in the genes of pre-replication complex involved in DNA-replication is detected in the majority of patients. This impedes the cellular proliferation resulting in a reduction of total cell number and thereby retardation of overall growth. This case report describe the typical dentofacial characteristics in a 5 years old child affected with Meier-Gorlin syndrome along with other associated anomalies and a multidisciplinary approach for their management. |
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