Cutis marmorata telangiectatica congenita (CMTC) is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. This disorder may be associated with cutaneous atrophy and ulceration of the involved skin. We herewith report a 20-year-old female patient with CMTC since childhood along with ulcerations on both breasts. CMTC is a benign vascular an...

pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. we report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. the case brings in forth the importance of investigating any infant presenting with features of c...

Between 1994 and 2010, a total of 123 patients with obstructive azoospermia due to aplasia of vas deferens (CAVD) were surgically treated. In 110 patients, the condition was bilateral (CBAVD), 13 men had unilateral aplasia (CUAVD), and 10 patients additionally had aplasia of one kidney. All patients underwent CFTR genetic testing, which detected two mutations (homozygous or compound heterozygou...