Genetic and Metabolic Disorders — Flashcards

Flashcard 51: Ataxia-TelangiectasiA presents with a triad of:- _____- spider angiomas (Telangiectasia)- IgA deficiency

Answer: cerebellar defects (Ataxia)

Flashcard 52: How soon after birth do symptoms of fructose metabolism disorders present? _____

Answer: Months after

Flashcard 53: A(n) _____ immunoreactive trypsinogen may be indicative of cystic fibrosis

Answer: increased

Flashcard 54: The newborn screening method of choice for _____ is the tandem mass spectrometry

Answer: PKU

Flashcard 55: _____ syndrome is a combination of: 1. Wilms tumor 2. Macroglossia 3. Muscular hemihypertrophy (or hyperplasia) 4. Organomegaly

Answer: Beckwith-Wiedemann

Flashcard 56: Achondroplasia can lead to _____ hydrocephalus due to jugular foramen stenosis

Answer: communicating

Extra: Narrowing of the jugular foramen leads to increased intracranial venous pressure, which impairs CSF resorption, resulting in communicating hydrocephalus. Note: Foramen magnum stenosis in achondroplasia can also occur, but typically presents with cervicomedullary compression and, less commonly, obstructive (non-communicating) hydrocephalus.

Flashcard 57: _____ is a 22q11 deletion syndrome that presents with thymic aplasia, parathyroid aplasia and cardiac defects.

Answer: DiGeorge Syndrome

Flashcard 58: _____ syndrome is a craniosynostosis syndrome featuring premature closure of multiple cranial sutures (acrocephaly) and syndactyly.

Answer: Apert

Flashcard 59: WAGR syndrome is a combination of: 1. _____ 2. Aniridia (absence of iris) 3. Genital abnormalities 4. mental or motor Retardation

Answer: Wilms tumor

Flashcard 60: The 5 A's of Down syndrome are: - A_____ - Atresia (duodenal) - Atrioventricular septal defect - Alzheimer's (early onset) - AML / ALL

Answer: dvanced maternal age