familial occurrence of lip pits: a case report

Familial hypercholesterolemia: a case report

Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...

Familial hypercholesterolemia: A case report

Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...

Familial Occurrence of Cleidocranial Dysostosis: A Case Report

Cleidocranial dysostosis is a rare congenital skeletal disorder, associated with total or partial absence of clavicles, delayed closure of cranial fontanelles and brachycephalic skull. There is delayed exfoliation of primary dentition and eruption of permanent teeth. Presence of multiple supernumerary teeth and morphologic abnormalities of the maxilla and mandible are also observed. The inciden...

Huge Arteriovenous Malformation of Upper Lip- A Case Report

Introduction: Arteriovenous malformations (AVMs) are uncommon vascular lesions that can arise in any part of the body. Case Report: In this case study, we presented a huge AVM of the upper lip in a 70-year-old man that he noticed since 5years ago with slow growth in this period. Computed tomography angiography revealed a large AVM with feeders from the right...

Lip pits and congenital absence of second premolars: varied expression of the Lip Pits syndrome.

Familial Cleidocranial Dysplasia in a Neonate: A Case Report

Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...