A&I

Question 1

congenital neutropenia + cardiomyopathy and proximal skeletal myopathy

Answer 1

Barth Syndrome

Question 2

congenital neutropenia + short-limbed dwarfism, fine hair, and impaired immunity

Answer 2

Cartilage-hair hypoplasia

Question 3

congenital neutropenia + varying degrees of oculocutaneous albinism

Answer 3

Chédiak-Higashi syndrome

Question 4

congenital neutropenia + abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa

Answer 4

Dyskeratosis congenita

Question 5

congenital neutropenia + many possible congenital abnormalities with highly variable severity

Answer 5

Fanconi anemia

Question 6

congenital neutropenia + failure to thrive, exocrine pancreatic dysfunction, and skeletal abnormalities

Answer 6

Shwachman-Diamond syndrome (SDS)

Question 7

congenital neutropenia where neutropenia is often the only presenting sign. Severe congenital neutropenia is diagnosed by genetic testing of ELANE (the neutrophil elastase gene) on 19p13.3 or HAX1 on 1q21.3.

Answer 7

Severe congenital neutropenia