Craniometaphyseal Dysplasia: A review and novel oral manifestation

Abstract

Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans. This novel finding can aid the clinician in the management of patients with Craniometaphyseal Dysplasia, and complications that can arise in dentoalveolar surgery.

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

“…Currently, calcitonin therapy or calcitriol supplementation is used for low-calcium diet therapy. 8 In case 1, a low-calcium diet was administered and his nasal congestion and snoring were significantly improved; and the biochemical indicators were also significantly improved, but the hearing and appearance remained unchanged.…”

Simultaneous LeFort III and LeFort I Osteotomies in Craniometaphyseal Dysplasia

“…The maxilla and mandible can also be afflicted, thereby causing a dental malocclusion (Novelli et al, 2017). Furthermore, progressive narrowing of the various skull base foramina can compress exiting cranial nerves, resulting in visual disturbance, facial palsy, or hearing loss (Martin et al, 2017). The constriction can be so severe that some patients will have a narrowed foramen magnum that compresses the medulla.…”

“…Although the clinical manifestations of CMD are unique, physical examination alone cannot definitively diagnose the condition as a similar presentation is seen in other conditions. Craniodiaphyseal dysplasia, frontometaphyseal dysplasia, and Pyle disease all have historically been misdiagnosed as CMD due to comparable radiographic and physical characteristics (Martin et al, 2017). In fact, some of the earliest case reports treated these conditions as a single disease entity synonymous with CMD (Brons and Koudstaal, 1969).…”

“…Previous experimental studies have demonstrated that point or single amino acid mutations in the gene cause deficient transportation of pyrophosphate into bone extracellular matrix. This results in increased bone deposition and hyperostosis with progressive thickening of the cranial bones (Chen et al, 2014;Martin et al, 2017;Novelli et al, 2017). Genetic sequence analysis of patients with CMD has detected mutations in the ANKH gene in 90% of affected individuals.…”

“…No definitive treatment for patients with CMD exists, but medical and surgical therapy can ameliorate some of the physical manifestations. Current medical management is largely experimental and has focused on efforts to decrease the hyperostosis (Ahmad et al, 2006;Martin et al, 2017). Calcitonin can be given to reduce bone resorption by inhibiting osteoclastic activity, thereby reducing bony remodeling (Novelli et al, 2017).…”