P3.25 Charcot-Marie-Tooth type 1E associated with Dandy-Walker malformation in monozygotic twins: Case report

2011 ◽  
Vol 21 (9-10) ◽  
pp. 689
Author(s):  
A.L. Massano ◽  
A. Geraldo ◽  
A. Matos ◽  
L. Negrão
Keyword(s):  
Case Report ◽  
Monozygotic Twins ◽  
Charcot Marie Tooth ◽  
Dandy Walker Malformation ◽  
Tooth Type ◽  
Walker Malformation

G.P.4.01 Charcot-Marie-Tooth type 1E in monozygotic twins linked to a rare PMP22 mutation

2009 ◽  
Vol 19 (8-9) ◽  
pp. 565
Author(s):  
A. Matos ◽  
L. Negrão ◽  
A. Geraldo ◽  
S. Batista ◽  
A. Palmeiro ◽  
...  
Keyword(s):  
Monozygotic Twins ◽  
Charcot Marie Tooth ◽  
Tooth Type

Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report

2004 ◽  
Vol 24 (10) ◽  
pp. 796-798 ◽  
Author(s):  
K. L. Deurloo ◽  
J. M. Cobben ◽  
Y. M. Heins ◽  
M. de Ru ◽  
L. C. D. Wijnaendts ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Dandy Walker Malformation ◽  
Walker Malformation

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report

Neurogenetics ◽  
2020 ◽  
Vol 21 (4) ◽  
pp. 301-304
Author(s):  
Daniel Halperin ◽  
Aviad Sapir ◽  
Ohad Wormser ◽  
Max Drabkin ◽  
Yuval Yogev ◽  
...  
Keyword(s):  
Case Report ◽  
Charcot Marie Tooth ◽  
Tooth Type

scholarly journals Dandy-Walker variant with precocious puberty: a rare association

2018 ◽  
Vol 11 (1) ◽  
pp. e226281
Author(s):  
Rajesh Rajput ◽  
Sanat Mishra ◽  
Parul Ahlawat ◽  
Pawan Kumar Yadav
Keyword(s):  
Case Report ◽  
Posterior Fossa ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Secondary Sexual Characteristics ◽  
Rare Association ◽  
Dandy Walker Malformation ◽  
Secondary Hypothyroidism ◽  
Sexual Characteristics ◽  
Walker Malformation

Precocious puberty is characterised by premature appearance of secondary sexual characteristics before the age of 7 years in girls and 9 years in boys. Dandy-Walker malformation comprises a spectrum of intracranial malformations of the posterior fossa. We present a case of a 7-year-old male child who has presented with features of central precocious puberty and on further evaluation has been found to have Dandy-Walker variant and secondary hypothyroidism. The following case report describes this association which is extremely rare and has never been described in literature.

scholarly journals Acute promyelocytic leukemia in a child with dandy walker malformation: A case report

2018 ◽  
Vol 3 (3) ◽  
pp. S26-S27
Author(s):  
Rohit Kapoor ◽  
Neha Rastogi ◽  
Dhwanee Thakkar ◽  
Goutomi Chatterjee ◽  
Anil Sharma ◽  
...  
Keyword(s):  
Case Report ◽  
Acute Promyelocytic Leukemia ◽  
Promyelocytic Leukemia ◽  
Dandy Walker Malformation ◽  
Walker Malformation

scholarly journals Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report

2019 ◽  
Vol 14 (3) ◽  
pp. 415-418 ◽  
Author(s):  
Alessio Pirino ◽  
Maria Alessandra Sotgiu ◽  
Erich Cosmi ◽  
Andrea Montella ◽  
Pasquale Bandiera
Keyword(s):  
Case Report ◽  
Spina Bifida ◽  
Dandy Walker Malformation ◽  
Walker Malformation
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