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Case Report
A Case of Jacobsen Syndrome Presenting with a Huge Cephalhematoma and Thrombocytopenia after Birth
Clin Pediatr Hematol Oncol 2018;25:56-60.
Published online April 30, 2018
© 2018 Korean Society of Pediatric Hematology-Oncology and Korean Society for Pediatric Neuro-Oncology

Juhee Shin, M.D.1, Gaeun Kim, M.D.1, Rosie Lee, M.D.1, Nani Jung, M.D.1, Ye Jee Shim, M.D.1 and Jung-Sook Ha, M.D.2

Departments of 1Pediatrics, 2Laboratory Medicine, Keimyung University School of Medicine and Dongsan Medical Center, Daegu, Korea
Correspondence to: Ye Jee Shim
Department of Pediatrics, Keimyung University School of Medicine and Dongsan Medical Center, 56 Dalseong-ro, Jung-gu, Daegu 41931, Korea
Tel: +82-53-250-7024 Fax: +82-53-250-7783 E-mail: yejeeshim@dsmc.or.kr
Received March 22, 2018; Revised April 3, 2018; Accepted April 9, 2018.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: Jacobsen syndrome, 11q deletion, Paris-Trousseau syndrome, Thrombocyto-penia, Distal 11q deletion syndrome
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April 2018, 25 (1)
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  • Ye Jee Shim