Definition An uncommon inherited disorder that is estimated to occur once in every 100,000 births, manifesting exocrine pancreatic insufficiency with secondary steatorrhea, blood cell deficiencies, and skeletal abnormalities. It was first described in 1964.247,249 Pathogenesis Shwachman-Diamond syndrome results from mutations in the SBDS gene on chromosome 7q11, which induces accelerated […]
Definition This inherited disorder is characterized by cutaneous and mucous membrane abnormalities, progressive marrow insufficiency, and a predisposition to malignant transformation. It is much more common in males than in females, and occurs in about 1 per 1 million population.221,238 Pathogenesis & cause Dyskeratosis usually is inherited as a recessive […]
Definition and History Fanconi anemia is the most common form of constitutional aplastic anemia and was initially described in three brothers by Fanconi in 1927.219 It is inherited as an autosomal recessive condition that results from defects in genes that modulate the stability of DNA. Epidemiology or cause Fanconi Anemia […]