LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertr...

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome with a diagnosis that is dependent upon clinical findings. Recognition of this entity is based upon unique facial appearance, including long palpebral fissures with everted lower eyelids, arched eyebrows, fleshy-cup-shaped ears and trapezoid philtrum, postnatal growth retardation, and mild to moderate mental retardatio...

Sturge-Weber syndrome, encephalotrigeminal angiomatosis, is a neurocutaneous disorder characterized by a facial cutaneous vascular nevus, seizures, mental retardation, hemiplegia, homonymous hemianopia, and buphthalmos or glaucoma (1). The clinical findings are related to vascular anomalies of the face, ocular choroid, and leptomeninges. The imaging findings in Sturge-Weber syndrome may include...

Dentinogenesis imperfecta type II or hereditary opalscent dentin is one of the most common autosomal dominant anomaly of dentin that occurs in both sex affecting approximately 1:8000 persons. Clinically this disorder is characterized by variable blue gray to yellow brown teeth, with fracture of enamel and excessive wear. The treatment strategy is focused towards protecting teeth from further we...

BACKGROUND AND PURPOSE Complete labyrinthine aplasia (CLA), also referred to as Michel aplasia, is a severe congenital anomaly of the inner ear, defined by the complete absence of inner ear structures. The purpose of this study was to document the imaging findings in a series of patients with CLA, with review of the literature, to better understand this anomaly. MATERIALS AND METHODS The CT a...

OBJECTIVES - To understand how surgical interventions impact the organization and internal integration of the major components of the skull, we address the functional and developmental relationships during perinatal development. METHODS - A number of methods for quantifying modularity and integration of morphological data are available. Here, measures derived from three-dimensional computed tom...

The dolichoectatic basilar artery was found in 23 cases during a 10-year period. The 19 males and 4 females ranged in age from 30 to 69 years (mean: 55 years). Hypertension was noted in 17 patients. In seventeen (74%) of the present cases this anomaly could be visualized with CT scan. Seven patients (30%) presented with pontine infarction, which was identified on CT scan in all cases. Vertebro-...