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A case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth

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Author(s)
Juhee ShinGaeun KimRosie LeeNani JungYe Jee ShimJung-Sook Ha
Keimyung Author(s)
Shim, Ye JeeHa, Jung Sook
Department
Dept. of Pediatrics (소아청소년학)
Dept. of Laboratory Medicine (진단검사의학)
Journal Title
Clinical Pediatric Hematology-Oncology
Issued Date
2018
Volume
25
Issue
1
Keyword
11q deletion Distal 11q deletion syndrome Jacobsen syndromeParis-Trousseau syndromeThrombocytopenia
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.
Alternative Title
출생 후 커다란 두혈종과 혈소판감소증을 보인 Jacobsen Syndrome 1예
Keimyung Author(s)(Kor)
심예지
하정숙
Publisher
School of Medicine (의과대학)
Citation
Juhee Shin et al. (2018). A case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth. Clinical Pediatric Hematology-Oncology, 25(1), 56–60. doi: 10.15264/cpho.2018.25.1.56
Type
Article
ISSN
2233-5250
DOI
10.15264/cpho.2018.25.1.56
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/41030
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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