Walker-Warburg syndrome

Walker-Warburg syndrome Relevant markers:

Agenesis of vermisAgyriaAnal atresiaBilateral hypoplasia/atrophy of cerebellumCataractCephaloceleCorpus callosum dysgenesisDandy Walker malformationDilated 4th ventricleDysplastic vermisEchogenic lining in vitreous bodyHigh insertion of the tentoriumHypoplastic optic nervesKinked brainstemLissencephalyMacrophtalmiaMalformed midbrain (1st trimester)Outer echogenic bandPersistent hyperplastic primary vitreousReduced periventricular spaceRetinal detachmentRhomboencephalosynapsisRotated vermisShort corpus callosumSmall vermisCystic cisterna magna

Parents markers:

Agenesis of corpus callosum (ACC)Cleft lipCorpus callosum hypoplasiaGenitalsMicrocephalyMicrophthalmiaMidline brain structuresPericallosal lipomaVentriculomegaly

Incidence:

1/60500 — -

Involved genes:
(gene — definition — chromosome)

FKTN — FUKUTIN — 9q31.2, POMGNT1 — PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE — 1p34.1, POMT1 — PROTEIN O-MANNOSYLTRANSFERASE 1 — 9q34.13

Inheritance mode:

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

Links:

www.sonoworld.com, www.sonoworld.com

References:

2009	Ultrasound Obstet Gynecol.		Read on PubMed
2010	Ultrasound Obstet Gyneco		Read on PubMed
2012	Pediatr Radiol.		Read on PubMed
2016	Ultrasound Int Open	Case report	Read on PubMed
2016	Ultrasound Obstet Gynecol	4 cases	Read on PubMed