Cherubism (MIM 118400) is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism.

The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx(-/-) mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations in PRX could cause human peripheral myelinopathies. In accordance with this, we identified three unrelated Dejerine-Sottas neuropathy patients with recessive PRX mutations-two with compound heterozygous nonsense and frameshift mutations, and one with a homozygous frameshift mutation. We mapped PRX to 19q13.13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997).

Transposition of the great arteries may be associated with complex cardiac disease that could be detected on the 4-chamber view of the heart. When the 4-chamber view is normal, it is important to identify the crisscross relationship of the outflow tracts. If this is not done, it is important to document that the pulmonary artery bifurcates and originates from the right ventricle. Five short axis views of the heart may be helpful to detect conotruncal abnormalities.

ongenital left ventricular aneurysm is a rare condition characterized by a protrusion or outpouching of the ventricular wall. The etiology is unknown, and there is a variable prognosis in the current literature. Approximately 20 cases detected by prenatal ultrasonography have been reported, 1-12 with 4 of these cases indicating the presence of pericardial fluid. 1,10,11 We report a case of left ventricular aneurysm with a large pericardial effusion diagnosed at 17 weeks' gestation but retrospectively recognized on imaging at 15 weeks 6 days. To our knowledge, this represents the earliest reported prenatal diagnosis to date and newly reports placement of a pericardial drain catheter in this condition. Case ReportA 47-year-old white woman, gravida 9, para 6025, was referred for routine screening ultrasonography for advanced maternal age at an estimated menstrual age (EMA) of 15 weeks 6 days, which revealed a pericardial effusion. The patient's medical history was notable for severe hypertension, requiring multiple medications: nifedipine (calcium channel blocker), and methyldopa (a central α-adrenergic agent). She had been hospitalized at 11 weeks 2 days with fever, vomiting, and dehydration due to an acute viral illness and sinusitis, requiring intravenous hydration, antihypertensive medications, and amoxicillin. Though all her prior pregnancies were uneventful, her sixth child died 2 days after birth, and an autopsy was unremarkable. Initial ultrasonography at an EMA of 15 weeks 6 days showed a single live intrauterine pregnancy with a pericardial effusion. Amniocentesis was performed for karyotype analysis, and the result was normal, 46,XY. Results