Congenital Disorder of Glycosylation IId (CDG-IId) - A New Entity: Clinical Presentation with Dandy-Walker Malformation and Myopathy

2002 ◽  
Vol 33 (1) ◽  
pp. 27-32 ◽  
Author(s):  
V. Peters ◽  
J. M. Penzien ◽  
G. Reiter ◽  
C. Körner ◽  
R. Hackler ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Dandy Walker Malformation ◽  
Walker Malformation

scholarly journals The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant

2021 ◽  
Vol 7 (4) ◽  
pp. 236-243
Author(s):  
Shahin Koohmanaee ◽  
◽  
Amirhossein Tamimi ◽  
Soroush Ahmadimacciani ◽  
Atena Tamimi ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Clinical Presentation ◽  
Brain Mri ◽  
Primary Amenorrhea ◽  
Genetic Analyses ◽  
Common Cause ◽  
Dandy Walker Malformation ◽  
Ovarian Agenesis ◽  
Walker Malformation ◽  
Secondary Sexual

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malformation. Clinical Presentation and Intervention: We aimed to report a case with gonadal dysgenesis, MRKH, and the Dandy-Walker variant. In this care report, the authors reported a 15-year-old girl with primary amenorrhea and underdeveloped secondary sexual properties. Her karyotype was 46, XX. The abdominopelvic MRI without contrast demonstrated bilateral ovarian agenesis and no uterus or cervix. Vagina was normal in length. Brain MRI was consistent with the Dandy-Walker variant. Conclusion: Although some affected chromosomal regions have been identified, further genetic analyses should be performed to elucidate the probable association between these anomalies.

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

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

2009 ◽  
Vol 30 (5) ◽  
pp. 795-803 ◽  
Author(s):  
Ana I. Vega ◽  
Celia Pérez-Cerdá ◽  
Lourdes R. Desviat ◽  
Gert Matthijs ◽  
Magdalena Ugarte ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
New Therapy ◽  
Splicing Mutations ◽  
Type Ia

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

2006 ◽  
Vol 148 (1) ◽  
pp. 115-117 ◽  
Author(s):  
Steven M. Schade van Westrum ◽  
Paul J. Nederkoorn ◽  
P. Richard Schuurman ◽  
Tom Vulsma ◽  
Marinus Duran ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia

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
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