Congenital Disorders of Platelet Function and Number

Ruchika Sharma, Juliana Perez Botero, Shawn M. Jobe

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations


Mucocutaneous bleeding symptoms and/or persistent thrombocytopenia occur in individuals with congenital disorders of platelet function and number. Apart from bleeding, these disorders are often associated with additional hematologic and clinical manifestations, including auditory, immunologic, and oncologic disease. Autosomal recessive, dominant, and X-linked inheritance patterns have been demonstrated. Precise delineation of the molecular cause of the platelet disorder can aid the pediatrician in the detection and prevention of specific disorder-associated manifestations and guide appropriate treatment and anticipatory care for the patient and family.

Original languageEnglish (US)
Pages (from-to)561-578
Number of pages18
JournalPediatric clinics of North America
Issue number3
StatePublished - Jun 2018
Externally publishedYes


  • Congenital platelet disorder
  • Platelet function
  • Thrombasthenia
  • Thrombocytopenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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