OP07.03: “Isolated” Dandy-Walker malformation on prenatal imaging: Look for subtelomeric deletion and post-natal hydrocephalus

2009 ◽  
Vol 34 (S1) ◽  
pp. 82-82 ◽  
Author(s):  
L. Guibaud ◽  
V. des Portes ◽  
D. Ville ◽  
P. Gaucherand
Keyword(s):  
Dandy Walker Malformation ◽  
Prenatal Imaging ◽  
Subtelomeric Deletion ◽  
Walker Malformation

Taenia–tela choroidea complex and choroid plexus location help distinguish Dandy-Walker malformation and Blake pouch cysts

2021 ◽  
Author(s):  
Matthew T. Whitehead ◽  
Gilbert Vezina ◽  
Sarah D. Schlatterer ◽  
Sarah B. Mulkey ◽  
Adre J. du Plessis
Keyword(s):  
Choroid Plexus ◽  
Dandy Walker Malformation ◽  
Tela Choroidea ◽  
Walker Malformation

Familial Dandy-Walker malformation and leukodystrophy

1997 ◽  
Vol 16 (4) ◽  
pp. 326-328 ◽  
Author(s):  
Véronique T. Humbertclaude ◽  
Philippe A. Coubes ◽  
Nicolas Leboucq ◽  
Bernard B. Echenne
Keyword(s):  
Dandy Walker Malformation ◽  
Walker Malformation

PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS

1996 ◽  
Vol 16 (12) ◽  
pp. 1137-1140 ◽  
Author(s):  
CHIH-PING CHEN ◽  
FEN-FEN LIU ◽  
SHEAU-WEN JAN ◽  
YUH-CHENG YANG ◽  
CHUNG-CHI LAN
Keyword(s):  
Prenatal Diagnosis ◽  
Dandy Walker Malformation ◽  
Walker Malformation

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood

2018 ◽  
Vol 56 (5) ◽  
pp. 340-346
Author(s):  
Adel Shalata ◽  
Supanun Lauhasurayotin ◽  
Zvi Leibovitz ◽  
Hongbing Li ◽  
Diane Hebert ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Renal Dysplasia ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Dandy Walker Malformation ◽  
Whole Exome ◽  
Pituitary Hypoplasia ◽  
Walker Malformation ◽  
Biallelic Mutations

BackgroundDandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown.ObjectiveTo identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families.MethodsMedical assessment, sonographic, MRI and pathological studies were used to define phenotype. Chromosomal microarray analysis and whole-exome sequence were performed to unravel the genotype.ResultsWe report four subjects from two unrelated families with homozygous mutations in the Exocyst Complex Component 3-Like-2 gene (EXOC3L2).EXOC3L2 functions in trafficking of post-Golgi vesicles to the plasma membrane. In the first family a missense mutation in a highly conserved amino acid, p.Leu41Gln, was found in three fetuses; all had severe forms of Dandy-Walker malformation that was detectable by prenatal ultrasonography and confirmed by autopsy. In the second family, the affected child carried a nonsense mutation, p.Arg72*, and no detected protein. He had peritrigonal and cerebellar white matter abnormalities with enlargement of the ventricular trigones, developmental delay, pituitary hypoplasia, severe renal dysplasia and bone marrow failure.ConclusionWe propose that biallelic EXOC3L2 mutations lead to a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow.

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