X‐Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report

X‐Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report

ABSTRACT X‐linked hereditary hydrocephalus (XLH) is a congenital form of hydrocephalus caused by variants in the L1CAM gene on the X chromosome. Diagnosis is often made prenatally via ultrasound or magnetic resonance imaging (MRI), but specific features such as adducted thumbs are subtle and easily...

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Main Authors: Ryosuke Horiuchi, Hiroshi Sato, Chinami Asai, Fumika Hamaguchi, Yu Takaishi, Kensuke Fujiwara, Yukari Atsumi, Yukiko Ando, Takahito Kawata, Kazuyo Kakui
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Clinical Case Reports
Subjects:
adducted thumb
genetic counseling
Hirschsprung's disease
L1CAM mutation
prenatal MRI
X‐linked hydrocephalus
Online Access:https://doi.org/10.1002/ccr3.70792
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https://doi.org/10.1002/ccr3.70792

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