Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father.

We report on a newborn male born to non-consanguineous parents with total anomalous pulmonary venous connection (TAPVC) and additional findings of malformed ears, hypertelorism, brachyphalangy in the hands, pterygium of the elbows, knees, and wrists, complex lower limb pre-axial polydactyly, tibial shortening, clubfeet, horseshoe kidney and a micropenis. He had a 46,XY karyotype. His 36-year-old father had similar craniofacial and limb anomalies suggesting an autosomal dominant syndrome with variable expression. Our patients may represent the 3rd and 4th examples of a newly-described syndrome by Baraitser et al. [(1997) Clin Dysmorphol 6:111-121] which is distinguished by malformed ears, complex pre-axial polydactyly and tibial aplasia in the lower limbs, severe brachyphalangy in the hands, and a micropenis.

Case study of fulminant meningococcal septicemia diagnosed in a twenty-year-old woman with bulimia nervosa.

Fulminant meningococcal septicemia accounts for 5% to 10% of patients with meningococcemia; it is rapidly progressive and is associated with high morbidity and mortality rates. The highest meningococcal incidence is found in the 6- to 20-month-old age group; whereas immunoincompetence is suggested in adults with the condition. Coincidentally, eating disorders are purported to be the most prevalent psychiatric or behavioral disturbance affecting adolescents, and studies indicate that vulnerability to infectious disease may be present in this group as a result of a subclinical malnutrition state. I report a case of fulminant meningococcal septicemia in a patient with a comorbid eating disorder of bulimia nervosa, who had a tumultuous disease course, and with rapid and aggressive management of her condition--an impressive recovery.