scholarly journals Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

2021 ◽  
Vol 108 (12) ◽  
pp. 2386-2388
Author(s):  
Lore Pottie ◽  
Christin S. Adamo ◽  
Aude Beyens ◽  
Steffen Lütke ◽  
Piyanoot Tapaneeyaphan ◽  
...  
Keyword(s):  
Cutis Laxa

Fractional Carbon Dioxide Laser Treatment for Textural Improvement and Symptomatic Relief of Acquired Cutis Laxa of the Neck

2020 ◽  
Author(s):  
Neera R. Nathan ◽  
Daniel M. O'Connor ◽  
Jonathan J. Lee ◽  
Kristine M. Cornejo ◽  
Jennifer K. Tan ◽  
...  
Keyword(s):  
Carbon Dioxide ◽  
Laser Treatment ◽  
Carbon Dioxide Laser ◽  
Symptomatic Relief ◽  
Cutis Laxa ◽  
Fractional Carbon Dioxide Laser

Keutel syndrome with overlapping features of cutis laxa: A new variant

2006 ◽  
Vol 140A (13) ◽  
pp. 1487-1489 ◽  
Author(s):  
Arti Nanda ◽  
Jehoram T. Anim ◽  
Meshal Al-Gareeb ◽  
Qasem A. Alsaleh
Keyword(s):  
Cutis Laxa ◽  
Keutel Syndrome ◽  
New Variant

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

2013 ◽  
Vol 110 (3) ◽  
pp. 352-361 ◽  
Author(s):  
Aikaterini Dimopoulou ◽  
Björn Fischer ◽  
Thatjana Gardeitchik ◽  
Phillipe Schröter ◽  
Hülya Kayserili ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa

A novel case of autosomal dominant cutis laxa in a consanguineous family

2017 ◽  
Vol 26 (3) ◽  
pp. 142-147 ◽  
Author(s):  
Mehmet B. Duz ◽  
Emre Kirat ◽  
Paul J. Coucke ◽  
Erkan Koparir ◽  
Alper Gezdirici ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Cutis Laxa ◽  
Consanguineous Family

scholarly journals Clinical Presentation of a Patient with Congenital Cutis Laxa and Abnormal Thyroid Hormone Levels

2014 ◽  
Vol 6 (1) ◽  
pp. 43-48
Author(s):  
Yan Ma ◽  
Jin-yu Zhang ◽  
Chen Wang ◽  
Wen Cen ◽  
Xin Liu ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Clinical Presentation ◽  
Cutis Laxa ◽  
Hormone Levels ◽  
Thyroid Hormone Levels

scholarly journals Progeroid Syndrome of De Barsy With Hypocalcemic Seizures

2012 ◽  
Vol 32 (2) ◽  
pp. 175-177
Author(s):  
J Cheriathu ◽  
IE D'souza ◽  
LJ John ◽  
R El Bahtimi
Keyword(s):  
Clinical Features ◽  
United Arab Emirates ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Cutis Laxa ◽  
Cerebral Malformation ◽  
Malformation Syndrome ◽  
Intrauterine Growth ◽  
Corneal Clouding ◽  
First Case

De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation-syndrome now commonly referred as ‘progerioid syndrome of de Barsy’. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, corneal clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among Afghani origin and also first case reported from United Arab Emirates, there have been no reported cases of hypocalcemic seizures. J Nepal Paediatr Soc 2012;32(2):175-177 doi: http://dx.doi.org/10.3126/jnps.v32i2.5993

scholarly journals Emphysema and cutis laxa.

Thorax ◽  
1983 ◽  
Vol 38 (10) ◽  
pp. 790-792 ◽  
Author(s):  
L Turner-Stokes ◽  
C Turton ◽  
F M Pope ◽  
M Green
Keyword(s):  
Cutis Laxa
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