Craniometaphyseal dysplasia: a case report and review of medical and surgical management

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

“…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]. Nasal obstruction has been previously reported in three cases of children ranging in age from 4 days to 2 months old presenting with inferior turbinate hypertrophy, choanal stenosis or a combination; two underwent surgery and one was treated conservatively [4,8,9], the details of which were not mentioned. Surgery for inferior turbinate hypertrophy has previously been reported in a 2 month old with a turbinectomy and a posterior septectomy.…”

Craniometaphyseal dysplasia and otolaryngology findings

“…There are many differential diagnoses including osteopetrosis, Pyle's disease, Paget's disease and craniodiaphyseal dysplasia [8,10].…”

Cardiopulmonary Arrest Caused by Craniometaphyseal Dysplasia

“…CMD is a rare genetic skeletal disorder with abnormal modeling of the skull and tubular bones, and patients show frontonasal bossing, hypertelorism, choanal narrowing, and a prognathic mandible [1,2]. The clavicles can also show osteosclerosis [3].…”

“…Craniometaphyseal dysplasia (CMD) is a rare genetic syndrome characterized by cranial and tubular bone anomalies [1]. This report presents the first case resulting in cardiopulmonary arrest (CPA) because of severe choanal stenosis due to CMD.…”