Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.

2022-11

Halliday, B J

Baynam, G

Ewans, L

Greenhalgh, L

Leventer, R J

Pilz, D T

Sachdev, R

Scheffer, I E

Markie, D M

McGillivray, G

Robertson, S P

Mandelstam, S

Zhu-Tokita-Takenouchi-Kim Syndrome

Journal Article

0000-0002-7330-7797

#PLACEHOLDER_PARENT_METADATA_VALUE#

#PLACEHOLDER_PARENT_METADATA_VALUE#

#PLACEHOLDER_PARENT_METADATA_VALUE#

0000-0003-0362-5607

#PLACEHOLDER_PARENT_METADATA_VALUE#

#PLACEHOLDER_PARENT_METADATA_VALUE#

0000-0002-2311-2174

0000-0001-5452-9194

0000-0002-3878-9057

0000-0002-5181-7809

0000-0001-6287-0819

10.3174/ajnr.A7663

Zhu-Tokita-Takenouchi-Kim syndrome is a severe multisystem malformation disorder characterized by developmental delay and a diverse array of congenital abnormalities. However, these currently identified phenotypic components provide limited guidance in diagnostic situations, due to both the nonspecificity and variability of these features. Here we report a case series of 7 individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome, 5 ascertained by their presentation with the neuronal migration disorder, periventricular nodular heterotopia.

link

AJNR. American Journal of Neuroradiology 2022

AJNR. American Journal of Neuroradiology

1936-959X