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Craniometaphyseal Dysplasia

Sin Rak Kim,Y. Han

Published 2013 in Archives of Plastic Surgery

ABSTRACT

Craniometaphyseal dysplasia (CMD) is an extremely rare genetic disease marked by progressive thickening of the craniofacial bones and aberrant development of the metaphyses in long bones. As a result of diffuse hyperostosis of the skull base, neurological symptoms associated with cranial nerve compression, such as reduced vision, cranial nerve palsy, and deafness can occur. Craniofacial abnormalities are prominent and include hypertelorism, frontonasal bossing, a broad nasal root, prognathic mandible, and defective dentition [1]. In this paper, the authors report a case of CMD associated with facial dysmorphism and mild hearing loss in a 4-year-old girl. The clinical aspects, pathogenesis, and management of CMD will be reviewed. A 4-year-old female was referred from the Department of Otorhinolaryngology to our department to examine her abnormal facial appearance and history of nasal obstruction and mild hearing loss. Her head circumference was in the 96th percentile, with notably wide-set eyes, a broad nasal root, a prominent forehead, and mouth breathing due to narrow nasal passages (Fig. 1). She was born normally at term with a weight of 3.1 kg. The pregnancy and neonatal period were uneventful. She had no relevant family history of skeletal or craniofacial abnormalities. The craniofacial bones were noted to have salient sclerosis and hyperostosis (Fig. 2). The distal femur was notable for a narrow diaphysis and widened metaphysis, resulting in an "Erlenmeyer flask"-shaped appearance (Fig. 3). A facial computed tomography scan exhibited reduced pneumatization of the bilateral mastoid air cells, diffuse cortical thickening of the craniofacial bones, obliteration of the paranasal sinuses, and narrowing of the cranial nerve foramina due to diffuse sclerosis of the cranial base (Fig. 4). Serum alkaline phosphatase was minimally elevated at 392 IU/L. Other characteristics were normal. The patient is curClin Rheumatol 2011;17:35-6. 5. Yotsuyanagi T, Yokoi K, Urushidate S, et al. Functional and aesthetic reconstruction using a nasolabial orbicularis oris myocutaneous flap for large defects of the upper lip. Plast Reconstr Surg 1998;101:1624-9.

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