J Korean Soc Neonatol.  2002 Nov;9(2):211-214.

A Case of Jacobsen Syndrome

• Noh JH
• Park IS
• Lee HK
• Kim YC

Abstract

Jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23. The features of the syndrome include growth retardation, psychomotor retardation, trigonocephaly, downward slanting palpabral fissures, retrognathia, micrognathia, hammer toes, thrombocytopenia and cardiac abnormalities. The disorder was first observed by Jacobsen in 1973. We herein report a case of Jacobsen syndrome in male premature neonate born with trigonocephaly, facial dysmorphism, cardiac defects and thrombocytopenia. The chromosomal study revealed 46, XY, del(11)(q23). The thrombocytopenia improved spotaneously by 3 months of age. The infant underwent a palliative operation for Tetralogy of Fallot at 11 months of age. A brief review of literature is included.

Keyword

Jacobsen syndrome

MeSH Terms

Craniosynostoses
Hammer Toe Syndrome
Humans
Infant
Infant, Newborn
Jacobsen Distal 11q Deletion Syndrome*
Male
Retrognathia
Tetralogy of Fallot
Thrombocytopenia