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. 2025 Apr;7(2):116-118.
doi: 10.1097/FM9.0000000000000271. Epub 2025 Feb 17.

Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants

Chiara Kratochwila  1 , Joanna Sichitiu  1 , Sébastien Lebon  2 , Camille Kumps  3 , Léo Pomar  1   4
Affiliations

Prenatal Diagnosis of Okur-Chung Syndrome: Ultrasound Findings and Implications of CSNK2A1 and KCNQ5 Variants

Chiara Kratochwila et al. Matern Fetal Med. 2025 Apr.
No abstract available

Keywords: CSNK2A1; Cerebellar vermis; Developmental encephalopathy; KCNQ5; Okur-Chung syndrome.

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Conflict of interest statement

None.

Figures

Figure 1.
Figure 1.
Imaging features of Blake’s pouch cyst and associated cerebellar abnormalities. A A two-dimensional ultrasound image of the posterior fossa on the axial plane revealing a communication between the fourth ventricle and the cisterna magna, attributed to a Blake’s pouch cyst (indicated by *), accompanied by unilateral cerebellar hypoplasia (highlighted by the arrow). B On the three-dimensional coronal plane, an underdevelopment of the left calcarine sulcus (marked by the arrowhead) and unilateral cerebellar hypoplasia (indicated by the arrow). C A three-dimensional ultrasound image on the midsagittal plane demonstrates partial vermis agenesis and a Blake’s pouch cyst (indicated by *), causing upward rotation of the vermis. The fastigium (highlighted by the arrow) and the primary fissure (marked by the arrowhead) are absent.
See this image and copyright information in PMC

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