Genetic and Metabolic Disorders — Flashcards

Patients with Bloom Syndrome present with cafe-au-lait spots, rash from _____ exposure, and short stature

_____ syndrome is also known as gargoylism due to the physical appearance of those afflicted by this disease

_____ syndrome is the most common cause of megaloblastic anemia due to cobalamin deficiency in infancy in Western countries

Increased _____ concentration (> 60 meQ/L) in sweat is diagnostic of cystic fibrosis

Cherry-red spot on the macula with hepatosplenoegaly and _____ is the presenting feature of Sandhoff's disease

Treacher Collins syndrome presents with systemic features such as _____ostomia with high-arched palate, External ear deformity and Bird-like face

Low levels of -fetoprotein (AFP) are seen in Trisomy _____ and decreased levels are seen in Turner Syndrome

_____ is an autosomal trisomy that is associated with rocker-bottom feet and microphthalmia.

VACTERL syndrome is characterised by:V_____, Anal atresia, Cardiac abnormalities, Tracheoesophageal fistula, Renal agenesis, and Limb defects

_____ hand is a feature of achondroplasia