Introduction

This disorder, caused by mutations in the human homologue of the Drosophila ''patched'' gene (OMIM 601309), is inherited in an autosomal dominant manner and shows high penetrance and variable expressivity. It produces a bewildering array of clinical appearances including the following: Face: broad facies; frontal and biparietal bossing; mild mandibular prognathism; odontogenic keratocysts of jaws. Eyes: strabismus; lateral displacement of the inner canthi; hypertelorism; subcon-junctival epithelial cysts; iris coloboma; glaucoma. Nose: broad nasal root. Mouth: cleft lip; cleft palate. Cardiovascular: cardiac fibroma. Respiratory: congenital lung cyst. Abdomen: lymphomesenteric cysts, often calcified; hamartomatous stomach polyps. Genitourinary: ovarian fibromata; ovarian carcinoma. Skeletal: bifid ribs; synos-totic ribs; hypoplastic ribs; scoliosis; kyphoscoliosis; abnormal cervical vertebrae; brachydactyly. Skin: basal cell nevi; basal cell carcinoma (BCC); pits of palms and soles. Neurological: mental retardation; desmoplastic medulloblastoma. Other rare lesions are also reported.

It is associated with a paternal age effect and abnormal sensitivity to therapeutic radiation. Diagnosis using clinical phenotype or genotype is still problematic and there is no universally accepted ''gold standard.''

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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