Ellis-van Creveld syndrome (EVC) is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound exami...

A 21 years old male with typical features of Ellis-Van Creveld Syndrome is presented for its rarity. This is the second living case being reported from India.

References BETHGE, H., WINKELMANN, W., HEESEN, D., MiEs, R., WEIGELMANN, W. & BAYER, J.M. (1971) Differential diagnosis of Cushing's syndrome by means of lysine vasopressin. Acta endocrinologica, Suppl. 152, 91. BROOKES, R.V., JEFFCOATE, S.L., LONDON, D.R., PRUNTY, F. T. G. & SMITH, P. M. (1966) Intermittent Cushing's Syndrome with anomalous response to dexamethasone. Journal of Endocrinology, ...

References BETHGE, H., WINKELMANN, W., HEESEN, D., MiEs, R., WEIGELMANN, W. & BAYER, J.M. (1971) Differential diagnosis of Cushing's syndrome by means of lysine vasopressin. Acta endocrinologica, Suppl. 152, 91. BROOKES, R.V., JEFFCOATE, S.L., LONDON, D.R., PRUNTY, F. T. G. & SMITH, P. M. (1966) Intermittent Cushing's Syndrome with anomalous response to dexamethasone. Journal of Endocrinology, ...

A case of a 14-year-old boy with optic hypoplasia and pituitary dwarfism was presented. Eye Examination showed typical hypoplasia of the left optic nerve and mild hypoplasia of the right optic nerve. Except for dwarfism and nystagmus, the appearance of the patient was not unusual. Computed tomography revealed an enlargement of the suprachiasmatic cistern, and the presence of the septum pellucid...

Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis-Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis-Van Creveld syndro...

studies have shown that there are psychiatric patients who tend to aggressively mutilate themselves; they burn or in most cases attempt to burn themselves, attempt to severely damage their genital organs (especially amputate their penis), castrate themselves, axtract their own eyes, amputate their own hands, or commit suicide. this report introduces two psychiatric men, aged 40 and 47, who had ...