A Case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth / 임상소아혈액종양
Clinical Pediatric Hematology-Oncology
;
: 56-60, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-714197
ABSTRACT
Jacobsen syndrome (JS) is a contiguous gene syndrome resulting from a deletion of chromosome 11q, with various clinical manifestations. A post-term small for gestational age infant was born by normal vaginal delivery without trauma or vacuum extraction. On day 5, right parietotemporal scalp swelling developed, with petechiae on the right cheek and thrombocytopenia (platelets 63,000/µL). A prominent forehead, wide-set eyes, short and upturned nose were noted. Karyotyping and microarray analysis demonstrated del(11)(q24q25), consistent with Jacobsen syndrome. Brain magnetic resonance imaging (MRI) revealed a huge cephalhematoma. The patient is scheduled to receive periodic evaluations for thrombocytopenia and heart, kidney, abdominal malformations, ophthalmologic and auditory problems. There are lots of newborns with cephalhematoma or petechiae after birth. Not all newborns with these symptoms need evaluations, but if they have these symptoms with suspect features or appearances, we need to go through further evaluations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Púrpura
/
Couro Cabeludo
/
Trombocitopenia
/
Vácuo
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Bochecha
/
Nariz
/
Idade Gestacional
/
Parto
Limite:
Humanos
/
Lactente
/
Recém-Nascido
Idioma:
Inglês
Revista:
Clinical Pediatric Hematology-Oncology
Ano de publicação:
2018
Tipo de documento:
Artigo
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