Results 1 to 10 of about 708 (140)
A 5-year journey with cutis laxa in an Indian child: The de barsy syndrome revisited
Indian Journal of Dermatology, 2016 De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities.
Abhijit Dutta +3 more
doaj +4 more sources
P770: Genetic characterization of PYCR1-associated De Barsy syndrome in a Pakistani family through whole exome trio sequencing [PDF]
Genetics in Medicine OpenTreatment and Management The neonate was admitted to the neonatal intensive care unit immediately post-birth due to respiratory distress, receiving low-flow oxygen (2L/min), which was increased to 4L/min via bCPAP due to increased respiratory effort ...
Azeem Butt +4 more
doaj +4 more sources
De Barsy Syndrome: A Case Report of a Rare Genetic Disorder. [PDF]
Cureus, 2023 De Barsy syndrome (DBS) is an exceedingly rare autosomal recessively inherited genetic disorder that manifests as premature aging with progeroid features. Typically, the skin loses its elasticity, causing laxity, wrinkling, and sagging. Other characteristics include ophthalmological, orthopedic, and neurological abnormalities.
Srimeghana K +5 more
europepmc +3 more sources
De Barsy syndrome and ATP6V0A2-CDG. [PDF]
Eur J Hum Genet, 2010 We read with interest the nice review of Morava et al1 on the autosomal recessive cutis laxa syndromes. The authors mention the De Barsy syndrome and state that the genetic background of the De Barsy syndrome has not yet been identified. However, in the paper by Kornak et al2 on impaired glycosylation and cutis laxa caused by mutations in ATP6V0A2 ...
Leao-Teles E +3 more
europepmc +4 more sources
Incomplete cleft palate in a child with De Barsy syndrome
Journal of Cleft Lip Palate and Craniofacial Anomalies, 2018 De Barsy syndrome, a rare genetic disorder, is characterized by progeroid features, cutis laxa, ocular abnormalities, growth retardation, and intellectual disability.
Devi Prasad Mohapatra +2 more
doaj +2 more sources
The Turkish Journal of Pediatrics, 2001 We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was
M Arazi, M I Kapicioğlu, M Mutlu
doaj +5 more sources
New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV. [PDF]
J Med Genet, 1998 We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens.
Jukkola A +6 more
europepmc +4 more sources
Single Amino Acid Supplementation in Inherited Metabolic Disorders: An Evidence-Based Review of Interventions. [PDF]
Genes (Basel)Verduci E +3 more
europepmc +3 more sources
Premature aging disorders: A clinical and genetic compendium
Clinical Genetics, Volume 99, Issue 1, Page 3-28, January 2021., 2021 Abstract Progeroid disorders make up a heterogeneous group of very rare hereditary diseases characterized by clinical signs that often mimic physiological aging in a premature manner. Apart from Hutchinson‐Gilford progeria syndrome, one of the best‐investigated progeroid disorders, a wide spectrum of other premature aging phenotypes exist, which differ
Franziska Schnabel +2 more
wiley +1 more source
Rhabdomyolysis: a genetic perspective [PDF]
, 2015 Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner +8 more
core +4 more sources