Clival encephalocele and 5q15 deletion: A case report

Surasak Puvabanditsin; Imran Malik; Eugene Garrow; Lissa Francois; Rajeev Mehta

doi:10.1177/0883073814530504

Clival encephalocele and 5q15 deletion: A case report

Surasak Puvabanditsin, Imran Malik, Eugene Garrow, Lissa Francois, Rajeev Mehta

Robert Wood Johnson Medical School (RWJMS), Pediatrics, Division of Neonatology

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion.

Original language	English (US)
Pages (from-to)	505-508
Number of pages	4
Journal	Journal of Child Neurology
Volume	30
Issue number	4
DOIs	https://doi.org/10.1177/0883073814530504
State	Published - Mar 26 2015

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Clinical Neurology

Keywords

5q15 deletion
clivus
congenital anomalies
encephalocele
neonate

Access to Document

10.1177/0883073814530504

Cite this

@article{2dc3919a3c4d44469a3b3302b823932a,

title = "Clival encephalocele and 5q15 deletion: A case report",

abstract = "A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion.",

keywords = "5q15 deletion, clivus, congenital anomalies, encephalocele, neonate",

author = "Surasak Puvabanditsin and Imran Malik and Eugene Garrow and Lissa Francois and Rajeev Mehta",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2014.",

year = "2015",

month = mar,

day = "26",

doi = "10.1177/0883073814530504",

language = "English (US)",

volume = "30",

pages = "505--508",

journal = "Journal of Child Neurology",

issn = "0883-0738",

publisher = "SAGE Publications Inc.",

number = "4",

}

TY - JOUR

T1 - Clival encephalocele and 5q15 deletion

T2 - A case report

AU - Puvabanditsin, Surasak

AU - Malik, Imran

AU - Garrow, Eugene

AU - Francois, Lissa

AU - Mehta, Rajeev

N1 - Publisher Copyright: © The Author(s) 2014.

PY - 2015/3/26

Y1 - 2015/3/26

N2 - A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion.

AB - A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion.

KW - 5q15 deletion

KW - clivus

KW - congenital anomalies

KW - encephalocele

KW - neonate

UR - http://www.scopus.com/inward/record.url?scp=84923371116&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84923371116&partnerID=8YFLogxK

U2 - 10.1177/0883073814530504

DO - 10.1177/0883073814530504

M3 - Article

C2 - 24762864

AN - SCOPUS:84923371116

SN - 0883-0738

VL - 30

SP - 505

EP - 508

JO - Journal of Child Neurology

JF - Journal of Child Neurology

IS - 4

ER -

Clival encephalocele and 5q15 deletion: A case report

Abstract

All Science Journal Classification (ASJC) codes

Keywords

Access to Document

Other files and links

Fingerprint

Cite this