Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome

Abstract

Craniometaphyseal dysplasia (CMD) is a genetic craniotubular bone disorder characterized by early progressive hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses of the tubular bones. We present the case of a patient with a confirmed history of the autosomal dominant form of CMD, associated with symptoms of obstructive sleep apnoea syndrome. Examination and imaging studies revealed several unusual features in addition to the common findings of CMD such as: bimaxillary retrusion with hyperostosis of the mental area, severe notching of the external occipital protuberance, huge occipital horn, decreased angle of the mandible with notching of the body and thickening of the areas of muscle attachment, and macrodontia. The literature and differential diagnoses are reviewed.

Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature

“…Craniofacial findings include frontal bossing, ocular hypertelorism, prognathism, depressed paranasal bones, wide nasal bridge with saddle deformity and impaired jaw movement. In contrast to other craniotubular dysplasias, CMD is associated with normal stature, intelligence, and normal life expectancy [2,4,5].…”

“…This gene encodes for a pyrophosphate transporter which channels intracellular pyrophosphate into the extracellular matrix, which is usually a potent inhibitor of mineralisation [1,6]. Findings in CMD are a high deposition of mineralised bone and a failure to degrade bone preventing normal bone remodelling [5]. Microscopic findings of bone demonstrate excessive subperiosteal bone formation, with high numbers of osteoblasts, few osteoclasts or osteocytes suggesting a failure of bone resorption [1,7].…”

Early Radiodiagnosis Of Craniometaphyseal Dysplasia – A Case Report

“…Radiographic changes are age-related and mostly visible during childhood. Radiographic findings may be sclerosis of the skull base, petrous temporal bone and along the skull sutures, Obliteration of paranasal sinuses, facial asymmetry and widening of the metaphyses of the long bones 3 .…”

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

“…Craniofacial abnormalities include wide-set eyes, wide nasal bridge, paranasal bossing and prominent mandible. The main feature leading to morbidity is hyperostosis of cranial bones, which can lead to increased intracranial pressure and narrowing of neural foramina [1,2,3,4]. Nerve damage can lead to facial palsy, blindness and deafness.…”