Genetic and Metabolic Disorders — Flashcards

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

Patients with Alagille syndrome usually present with a _____ stature and a failure to thrive

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

Which metabolic storage disorder is characterized by the presence of a collodion baby?

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

Which vitamin dependency is responsible for neonatal seizures?

Hirschsprung disease is associated with _____ syndrome

What is the most common cause of syndromic deafness?_____

_____ syndrome presents with _____-onset nephrotic syndrome, progressive renal insufficiency, _____ genitalia, and Wilms tumor.