Results 111 to 120 of about 708 (140)

De Barsy syndrome?an autosomal recessive, progeroid syndrome

European Journal of Pediatrics, 1985
We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of small joints and brisk deep tendon reflexes, progeroid aspect with cutis laxa, atrophy of skin with hyperpigmentation, isolated depigmentations ...
J, Kunze, F, Majewski, P, Montgomery, A, Hockey, I, Karkut, T, Riebel   +5 more
openaire   +4 more sources

De Barsy syndrome: Report of a case, literature review, and elastin gene expression studies of the skin

American Journal of Medical Genetics, 1992
AbstractSeveral “progeroid” syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an “aged” appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and athetoid posturing.
P S, Karnes, A T, Shamban, D R, Olsen, M J, Fazio, R E, Falk   +4 more
openaire   +4 more sources

A case of de Barsy syndrome with a severe eye phenotype

American Journal of Medical Genetics Part A, 2012
Mohammed, Al-Owain, Shamsa, Alanazi, Ola, Khalifa, Amal, Al-Hemidan, Loai, Al-Ebdi, Bandar, Al-Saud, Fowzan S, Alkuraya   +6 more
openaire   +4 more sources

Clinical implications of de Barsy syndrome

Pediatric Anesthesia, 2017
SummaryBackgroundDe Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability.AimsThe aim of this case series is to identify the anesthetic considerations in the clinical management of patients with de Barsy ...
Lindsay L. Warner, David A. Olsen, Hugh M. Smith   +2 more
openaire   +2 more sources

Progeroid syndrome of De Barsy – a case report and review of ophthalmic literature

Ophthalmic Genetics, 2022
This report describes a very rare case of progeroid syndrome of De Barsy (Cutis laxa-corneal clouding syndrome).A 2 year-old child presented to the pediatric ophthalmology outpatients with bilateral congenital corneal opacification along with dysmorphic facial features, including loose wrinkled skin, progeroid appearance, delayed milestones, short ...
Manjushree Bhate, Merle Fernandes, Sirisha Senthil, Shruthi Bathula, Sarah Beilur   +4 more
openaire   +2 more sources

De Barsy syndrome due to ALDH18A1 mutation – Expanding the spectrum of a rare neurocutaneous syndrome

Human Gene
Saranya B. Gomathy, Ajit Valaparambil Karthika, Balaswamy Reddy, Adarsh Anilkumar, Alfiya Fasaludeen, Soumya Sundaram, Bejoy Thomas, Ramshekhar N. Menon   +7 more
openaire   +3 more sources

De Barsy-Moens-Dierckx-Syndrom: Ein ungewöhnlicher Verlauf bei einem Frühgeborenen

Klinische Pädiatrie, 1994
We report about a premature infant with a De Barsy-Moens-Dierckx-syndrome, which is a rare cutaneo-oculo-cerebral malformation-syndrome. It is defined by the combination of a progeroid aspect, cutis laxa, growth retardation, cornea clouding, mental retardation and athetoid movements. Furthermore, the reported case showed a remarkable thermolability and
M. Schierenberg, W. Donné, P. Schiafone, R. Bald, U. Gembruch, M. Hansmann, M. Rister   +6 more
openaire   +1 more source

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

American Journal of Medical Genetics Part A, 2011
AbstractDe Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis laxa. Recently, PYCR1 mutations were identified in cutis laxa with progeroid features. Herein, we report on a DBS patient born to a nonconsanguineous Chinese family. The exceptional observation of congenital
Dar-Shong, Lin, Jui-Hsing, Chang, Hsuan-Liang, Liu, Chin-Hung, Wei, Chun-Yan, Yeung, Che-Sheng, Ho, Chyong-Hsin, Shu, Ming-Fu, Chiang, Chih-Kuang, Chuang, Yu-Wen, Huang, Tsu-Yen, Wu, Yuan-Ren, Jian, Zon-Darr, Huang, Shuan-Pei, Lin   +13 more
openaire   +2 more sources

[The De Barsy syndrome].

Tijdschrift voor kindergeneeskunde, 1989
De Barsy syndrome is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, growth retardation, mental retardation and athetoid movements. The clinical symptoms of a male infant are described and compared with all other cases reported in literature.
J, Hoekx, J, Smeitink, H, Brunner, L, Monnens   +3 more
openaire   +1 more source

Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome)

European Journal of Pediatrics, 1986
Clinical symptoms of a male infant are described and compared with cases now classified as the De Barsy syndrome, a distinct disorder related to cutis laxa. Morphologically, elastic fibres in skin were frayed and reduced in number and density. The collagen fibril network was normal.
B F, Pontz, F, Zepp, H, Stöss
openaire   +2 more sources