Dentofacial characteristics in a child with Meier–Gorlin syndrome: A rare case report

• Main Authors: Gauba, K. (Author), Goyal, A. (Author), Kapur, A. (Author), Morankar, R.G (Author)
• Format: Article
• Language: English
• Published: Elsevier B.V. 2018
• Subjects: anemia; Article; autosomal recessive disorder; case report; child; clinical article; dental caries; Dentofacial characteristics; dentofacial deformity; developmental delay; echography; ectopic kidney; face dysmorphia; gastroesophageal reflux; growth retardation; hearing impairment; human; karyotype 46,XY; knee disease; Management; Meier Gorlin syndrome; Meier-Gorlin syndrome; microcephaly; microstomia; microtia; mouth examination; nuclear magnetic resonance imaging; panoramic radiography; polydactyly; preschool child; retrognathia; short stature; speech delay; temporomandibular ankylosis
• Online Access: View Fulltext in Publisher

 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. © 2018 The Authors