Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature n...

We present a case of persistent left superior vena cava, anomalous right pulmonary venous connection to the right-sided superior vena cava and sinus venosus atrial septal defect detected by computed tomography (CT) pulmonary angiography and echocardiography. These defects were surgically corrected using a double-patch technique. In fact, CT can provide anatomical information about a complex ano...

Ocular lipodermoid cysts and solid dermoid tumors are choristomas which are described as normal tissue growth in an abnormal location. Congenital epibulbar lipodermoid comprises adipose tissue that is covered by connective tissue. They are usually located superotemporally, and basically tend not to involve the peripheral cornea. If the dermoid or lipodermoid is accompanied by other systemic con...

Ectodermal dysplasia is a group of systemic conditions that are congenital and are all caused by errors of/in ectoderm and the tissues arising of it. It constitutes of large and complex group of diseases characterized by triad of sparse hairs, abnormal or missing teeth and inability to sweat. Out of 170 ectodermal dysplasia described, <30 have been explained at molecular level with identifi cat...

Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated ...

We report the case of a 37-year-old man who suffered from biventricular failure due to left isomerism, inferior vena cava interruption with azygos vein continuation, bilateral superior vena cava, double outlet of right ventricle, complete atrioventricular septal defect, pulmonary stenosis, and isolated dextrocardia. Heart transplantation in patients with systemic venous anomalies often requires...

Change in color of oral mucosa reflects the underlying health status, which is either local or systemic. This color change is due to pigmentation, which may be physiological or pathological. Pigmentation in pathological conditions range from localized anomalies of to potentially life-threatening conditions. Since the dental professionals encounter a number of pigmented lesions in the oral cavit...

Neurofibromatosis type 1 (NF1) is associated with systemic vascular disease, and it can also affect intracranial vasculature in a small percentage of patients. Very rarely, NF1 may co-present with hypoplasia of the internal carotid artery (ICA). Prior reports have documented NF1 with bilateral optic gliomas and a unilateral hypoplastic internal carotid artery; however, we report a case with the...

Naevus Comedonicus (NC) is an uncommon developmental defect of the pilosebaceous apparatus (or rarely, may be of the sweat duct) characterised by group of slightly elevated papules which have central, dark, firm hyperkeratosis plug resembling a comedo [1]. It was first described by Kofmann in 1895 [2]. It commonly affects scalp, face, trunk and uncommonly the genitalia [3], palms and soles [4]....

Congenitally corrected transposition of the great arteries CCTGA is a rare congenital disease first described by Von Rokitansky in 1875. Transposition of the great arteries comprises 2.6 - 7.8% of all cases of congenital heart disease, and if uncorrected, is commonly fatal in the first year of life. Patients with corrected transposition of the great arteries without associated defects may remai...