Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

L. Vandy Black; Thomas Soltau; David R. Kelly; Roger L. Berkow

doi:10.1002/pbc.21550

Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

L. Vandy Black, Thomas Soltau, David R. Kelly, Roger L. Berkow

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS).

Original language	English (US)
Pages (from-to)	123-124
Number of pages	2
Journal	Pediatric Blood and Cancer
Volume	51
Issue number	1
DOIs	https://doi.org/10.1002/pbc.21550
State	Published - Jul 2008
Externally published	Yes

Keywords

Bone marrow failure syndromes
Congenital neutropenia
Premature infants
Shwachman-Diamond

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.21550

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abstract = "Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS).",

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AU - Soltau, Thomas

AU - Kelly, David R.

AU - Berkow, Roger L.

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AB - Shwachman-Diamond syndrome is a rare autosomal recessive disorder characterized by bone marrow dysfunction, exocrine pancreatic insufficiency, failure to thrive, and skeletal abnormalities. It is most commonly diagnosed in early childhood after the development of hematologic abnormalities. We report a premature infant born at 33 weeks gestation who was small for gestational age and displayed persistent cytopenias requiring transfusion. Genetic testing confirmed a diagnosis of Shwachman-Diamond syndrome (SDS).

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Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

Abstract

Keywords

ASJC Scopus subject areas

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