"The entity was discovered by Martin Bodian (1912-1994), a British ophthalmologist, in 1964 3. In the same year, it was also described by Harry Shwachman (1910-1986), an American physician, and his colleagues 4. Identification of the genetic locus on chromosome 7 in 2001 5 and mutations of the SBDS gene itself in 2003 6 are further noteworthy milestones in the understanding of this entity."
"Patients with Shwachman-Diamond syndrome may present with features of pancreatic insufficiency (e.g. diarrhoea, weight loss) or other physical manifestations, e.g. short stature, and dry skin (eczema). Presentation is often in childhood, although a later diagnosis is possible. Shwachman-Diamond syndrome is the second most common cause of pancreatic insufficiency in paediatrics after cystic fibrosis."
"The entity was discovered by Martin Bodian (1912-1994), a British ophthalmologist, in 1964 3. In the same year, it was also described by Harry Shwachman (1910-1986), an American physician, and his colleagues 4. Identification of the genetic locus on chromosome 7 in 2001 5 and mutations of the SBDS gene itself in 2003 6 are further noteworthy milestones in the understanding of this entity."