Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay

Pediatr Int. 2022 Jan;64(1):e14734. doi: 10.1111/ped.14734. Epub 2021 Oct 29.

Authors

Tatsuro Kumaki^{1

2}, Yumi Enomoto³, Noriko Aida⁴, Tomohide Goto¹, Kenji Kurosawa²

Affiliations

¹ Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
² Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
³ Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
⁴ Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.

PMID: 34714572
DOI: 10.1111/ped.14734

No abstract available

Keywords: NALCN; arthrogryposis; cerebellum; magnetic resonance imaging; neurodevelopmental disorder.

MeSH terms

Atrophy
Cerebellum / abnormalities
Contracture*
Face
Humans
Magnetic Resonance Imaging
Muscle Hypotonia*

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