Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers.

Van Buchem disease (VBD) is a rare bone sclerosing dysplasia caused by the lack of a regulatory element of the SOST gene, which encodes for sclerostin, an osteocyte-derived negative regulator of bone formation. We studied the demographic, clinical, biochemical, and densitometric features of 15 patients with VBD (12 adults and 3 children) and 28 related carriers of the gene mutation. The most common clinical findings in patients were facial palsy (100%) and various degrees of hearing impairment (93%); raised intracranial pressure had been documented in 20%.

Cervical cystic swelling in an adolescent: unusual association of a cervical mature teratoma with vertebral anomalies and a history of gastric duplication cyst.

A 14-year-old girl presented with a cervical cystic swelling in association with deformity of cervical vertebrae. As a child, she had been treated for gastric duplication. Pathologic examination of the resected cervical swelling revealed a mature teratoma.

[Severe dyspnoea in children following a fall].

A 12-year-old boy fell off his bicycle, hitting his neck on the handle-bars. He sustained a tracheal rupture, which required surgical treatment. Two other patients, a 4-year-old and a 2-year-old boy, also suffered laryngeal injuries following a fall.