Genetic and Metabolic Disorders — Flashcards

Which mucopolysaccharidosis is characterised by absence of hepatosplenomegaly and preservation of intelligence?_____

Heel-prick Guthrie test is the neonatal screening test for _____.

Hereditary tyrosinemia increases the risk of which hepatic cancer?_____

Problems of infants with IUGR and pathogenesis: _____: due to Syndrome anomalies, Chromosomal genetic disorders, Oligohydramnios induced deformation

In both scurvy and osteogenesis imperfecta (OI), the child cries on _____

Which metabolic storage disorder is characterised by presence of collodion baby?_____

Hirschsprung disease is associated with _____ syndrome

Which vitamin dependancy is responsible for neonatal seizures?_____

What is the most common cause of syndromic deafness?_____

Giant inclusions in polymorphonuclear neutrophils, which along with oculocutaneous albinism, and neutropenia is seen in _____ syndrome