Genetic and Metabolic Disorders — Flashcards

_____ syndrome is a combination of: 1. Wilms tumor 2. Macroglossia 3. Muscular hemihypertrophy (or hyperplasia) 4. Organomegaly

A(n) _____ immunoreactive trypsinogen may be indicative of cystic fibrosis

Ataxia-TelangiectasiA presents with a triad of:- _____- spider angiomas (Telangiectasia)- IgA deficiency

The newborn screening method of choice for _____ is the tandem mass spectrometry

How soon after birth do symptoms of fructose metabolism disorders present? _____

Achondroplasia can lead to _____communicating hydrocephalus due to jugular foramen stenosis

_____ syndrome is also known as craniosynostosis, involving premature closure of multiple cranial sutures (acrocephaly)

_____ is a 22q11 deletion syndrome that presents with thymic aplasia, parathyroid aplasia and cardiac defects.

Propionic acidemia presents with poor feeding, _____, hypotonia, anion gap metabolic acidosis, hepatomegaly and seizures

WAGR syndrome is a combination of: 1. _____ 2. Aniridia (absence of iris) 3. Genital abnormalities 4. mental or motor Retardation