Butterfly vertebra: Congenital variant

2018 ◽  
Vol 62 ◽  
pp. 121-122
Author(s):  
Lloyd J Ridley ◽  
Jason Han ◽  
William E Ridley ◽  
Hao Xiang
Keyword(s):  
Congenital Variant

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

2009 ◽  
Vol 52 (2-3) ◽  
pp. 148-152 ◽  
Author(s):  
Maria Antonietta Mencarelli ◽  
Tjitske Kleefstra ◽  
Eleni Katzaki ◽  
Filomena Tiziana Papa ◽  
Monika Cohen ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Microdeletion Syndrome ◽  
Congenital Variant

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

2012 ◽  
Vol 34 (7) ◽  
pp. 601-604 ◽  
Author(s):  
Yu Kobayashi ◽  
Tsukasa Ohashi ◽  
Noriyuki Akasaka ◽  
Jun Tohyama
Keyword(s):  
Rett Syndrome ◽  
Large Deletion ◽  
Congenital Variant

Internal Auditory Canal Diverticula in Children: A Congenital Variant

2020 ◽  
Author(s):  
Thomas J. Muelleman ◽  
Hannah Kavookjian ◽  
Julia Asmar ◽  
Kirang Patel ◽  
David Nielsen ◽  
...  
Keyword(s):  
Internal Auditory Canal ◽  
Congenital Variant

scholarly journals Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

2013 ◽  
Vol 21 (12) ◽  
pp. 1349-1355 ◽  
Author(s):  
Christophe Goubau ◽  
Koen Devriendt ◽  
Nathalie Van der Aa ◽  
An Crepel ◽  
Dagmar Wieczorek ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Position Effect ◽  
Platelet Defects ◽  
Congenital Variant

scholarly journals Congenital and neonatal lupus erythematosus: two case reports

2012 ◽  
Vol 87 (4) ◽  
pp. 625-628
Author(s):  
Marcos Noronha Frey ◽  
Ana Elisa Empinotti Ioppi ◽  
Gabriela Czarnobay Garbin ◽  
Roque Domingos Furian ◽  
Ana Elisa Kiszewski Bau
Keyword(s):  
Lupus Erythematosus ◽  
Antinuclear Antibodies ◽  
Case Reports ◽  
Nuclear Antigen ◽  
Neonatal Lupus ◽  
Cutaneous Lesions ◽  
Neonatal Lupus Erythematosus ◽  
Extractable Nuclear Antigen ◽  
The Moment ◽  
Congenital Variant

Neonatal lupus erythematosus is an autoimmune disease produced by the passage of maternal antinuclear antibodies and extractable nuclear antigen antibodies through the placenta. At the moment of the diagnosis, the mothers are asymptomatic in 40 to 60% of cases. The most common manifestations are cutaneous lesions and congenital heart block. The cutaneous findings are variable and usually begin within the first weeks or months of life. Congenital lupus erythematosus is a congenital variant of neonatal lupus erythematosus. We present one case of congenital lupus erythematosus and one case of neonatal lupus erythematous, showing the variability of this disease.

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

2009 ◽  
Vol 47 (1) ◽  
pp. 49-53 ◽  
Author(s):  
M. A. Mencarelli ◽  
A. Spanhol-Rosseto ◽  
R. Artuso ◽  
D. Rondinella ◽  
R. De Filippis ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Congenital Variant

Bilateral os centrale carpi: A rare congenital variant

1993 ◽  
Vol 18 (4) ◽  
pp. 586-587 ◽  
Author(s):  
Adam Greenspan ◽  
Eugenio O. Gerscovich
Keyword(s):  
Congenital Variant

scholarly journals A Congenital Variant of Thrombotic Thrombocytopenic Purpura in Two Siblings.

1994 ◽  
Vol 33 (12) ◽  
pp. 752-758 ◽  
Author(s):  
Yoichi AZUNO ◽  
Kohei KAKU ◽  
Kazuko SHINO ◽  
Shinji KAMEI ◽  
Manabu NISHIMURA ◽  
...  
Keyword(s):  
Thrombotic Thrombocytopenic Purpura ◽  
Thrombocytopenic Purpura ◽  
Congenital Variant

Unilateral hyperplasia of a cervical spinous process as a rare congenital variant of the spine

2007 ◽  
Vol 31 (6) ◽  
pp. 434-436 ◽  
Author(s):  
Christoph M. Heyer ◽  
Volkmar Nicolas ◽  
Soeren A. Peters
Keyword(s):  
Spinous Process ◽  
Congenital Variant
Sign in / Sign up

Export Citation Format

Share Document