Apert Syndrome with Epibulbar Dermoid Cyst in the Eye - Coincidence or an Additional Clinical Finding: A Case Report.

Craniosynostosis are heterogeneous group of syndromes characterized by premature fusion of suture that may occur alone or together with other anomalies. Apert syndrome, an autosomal dominant disorder, first described by Baumgartner in 1842, accounts for 4.5% of all children with craniosynostosis. We report a case of a 5-year-old female child who presented with complaints of inability to speak, facial dysmorphism and symmetric syndactyly of both hands and feet.

Familial Hypercholesterolemia: Report of a Family.

We report a family, two sibling and mother, who developed corneal arcus and multiple skin lesions in form of xanthomas. The lesions appeared all over the body involving fingers, hands, elbows, knees, buttocks and feet. Laboratory studies showed total serum cholesterol level of >700 mg/dL; triglyceride level <150 mg/dL in all the cases. Father died few years back at a young age due to cardiac illness. Findings were consistent with homozygous familial hypercholesterolemia. In our country, incidence of hypercholesterolemia is not known. Only few case reports are there in the available literature.