Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome

被引：4

作者：

Subramanian, Subramanian ^{[1
]}

Rajan, Deepa Soundara ^{[2
]}

Gaesser, Jenna ^{[2
]}

Wen-Ya Lo, Cecilia ^{[3
]}

Panigrahy, Ashok ^{[1
]}

机构：

[1] UPMC, Childrens Hosp Pittsburgh, Dept Radiol, Div Pediat Radiol, 4401 Penn Ave, Pittsburgh, PA 15224 USA

[2] UPMC, Childrens Hosp Pittsburgh, Dept Pediat, Div Child Neurol, Pittsburgh, PA USA

[3] Univ Pittsburgh, Pittsburgh, PA USA

来源：

PEDIATRIC RADIOLOGY | 2019年 / 49卷 / 10期

关键词：

Acrocallosal syndrome; Greig cephalopolysyndactyly syndrome; Infant; Magnetic resonance imaging; Olfactory bulb; Olfactory tract; Sonic hedgehog pathway; SPECTRUM;

D O I：

10.1007/s00247-019-04480-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe association of olfactory bulb and olfactory tract abnormalities in a child with acrocallosal syndrome caused by kinesin family membrane 7 (KIF7) mutation in sonic hedgehog pathway. The child also had fontanellar bone in the anterior fontanelle, short sagittal suture, sagittal synostosis, hippocampal malrotation and Joubert malformation. Fontanellar bone has been described in GLI3 mutation and mutant mice models but has not been reported in KIF7 mutation. We briefly review the role of sonic hedgehog pathway and its components KIF7 and GLI3 in forebrain and olfactory system development and also describe olfactory system abnormality in a child with GLI3 mutation.

引用

页码：1368 / 1373

页数：6

共 50 条

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Subramanian Subramanian
Deepa Soundara Rajan
Jenna Gaesser
Cecilia Wen-Ya Lo
Ashok Panigrahy
[J]. Pediatric Radiology, 2019, 49 : 1368 - 1373
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