A Case of Jacobsen Syndrome
Journal of the Korean Society of Neonatology
;
: 211-214, 2002.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Retrognatismo
/
Tetralogia de Fallot
/
Trombocitopenia
/
Craniossinostoses
/
Síndrome do Dedo do Pé em Martelo
/
Síndrome da Deleção Distal 11q de Jacobsen
Limite:
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2002
Tipo de documento:
Artigo
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