A Case of Jacobsen Syndrome
Journal of the Korean Society of Neonatology
;
: 211-214, 2002.
Article
in Korean
| WPRIM
| ID: wpr-142049
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Retrognathia
/
Tetralogy of Fallot
/
Thrombocytopenia
/
Craniosynostoses
/
Hammer Toe Syndrome
/
Jacobsen Distal 11q Deletion Syndrome
Limits:
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2002
Type:
Article
Similar
MEDLINE
...
LILACS
LIS