The De Barsy syndrome

Guerra, Deanna; Fornieri, C.; Bacchelli, Barbara; Lugli, Licia; Torelli, Paola; Balli, Fiorella

doi:10.1111/j.0303-6987.2004.00241.x

Cited by 21 publications

(26 citation statements)

References 25 publications

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“…52 Distinguishing features include bilateral corneal opacification, progeroid appearance, reduced subcutaneous fat, and athetoid movements early in life. [52][53][54][55][56][57][58][59] Etiology. Although the genetic cause of DBS remains poorly defined, several publications identifying ATP6V0A2 and PYCR1 mutations in ARCL may have included some patients with DBS.…”

Section: Arcl Type III (Dbs)mentioning

confidence: 99%

Cutis laxa: A review

Berk

Bentley

Bayliss

et al. 2012

Journal of the American Academy of Dermatology

176

155

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Section: Arcl Type III (Dbs)mentioning

confidence: 99%

Cutis laxa: A review

Berk

Bentley

Bayliss

et al. 2012

Journal of the American Academy of Dermatology

176

155

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“…Cutis Laxa syndrome (CL) is a group of extremely rare diseases that affect the connective tissue, do not show predisposition by sex, and whose incidence is unknown since there is a subdiagnosis of this disease when mistakenly diagnosed with other connective tissue disorders [1].…”

Section: Discussionmentioning

confidence: 99%

“…This is defined as the combination of progeroid aspect, cutis laxa, corneal opacity, intrauterine growth retardation and severe mental retardation (although some will learn to speak, intelligence is less than normal) [1]. The orthopedic manifestations are dysplasia of hip development, hyper laxity of severe joints, athetoid movements, scoliosis and severe deformities of the foot.…”

Section: Introductionmentioning

confidence: 99%

De Barsy Syndrome: Orthopedic Case report and Literature Review

Guerra-Jasso¹

2017

MOJOR

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MOJ Orthop Rheumatol 2017, 7(5): 00284OGJA, male patient of 5 years and 6 months sent for firsttime orthopedic evaluation from a telethon child rehabilitation center in the city of Irapuato, Mexico due to the antecedent of psychomotor retardation, asymmetry of the pelvic extremities and inability to stand and walk. It does not have a hereditary family history of importance, mother at the time of pregnancy 30 years of age, second pregnancy, no drug addiction during pregnancy, history of intake of folic acid, iron and vitamins, pregnancy at term 40 weeks gestation, Natural birth, weight 3000 gr, size 51 cm, do not report hypoxia at birth (does not remember APGAR scale), both graduates of the hospital at 24 hours. During development and birth it negates hyperbilirubinemia; Cephalic support at 1 year 5 months, sedestation 1 year and 8 months, currently does not achieve standing, ambulation not achieved, sporadic babbling, history of previous hospitalizations for bilateral congenital cataract surgery operated at 4 months of age, history of pneumonia Repetition, has been diagnosed with Barsy syndrome since the beginning of 2015. Physical ExaminationAthetoid movements, Macrocephaly, cephalic support, adequate hair implantation, asymmetric eyes (hypertelorism), eruptive asymmetry of the upper and lower canines, cylindrical mobile neck, short, chest thorax, with limitation to the amplexation of the Respiratory movements, unstructured kyphosis, normal cervical lordosis, no spinal dysrhaphy, soft abdomen, hepatic dullness 5 cm below the costal border, 2 cm umbilical hernia not protruded. Without ambulation, Thoracic integral extremities, normal glenohumeral joint, elbow with hyperextension, hand with integral fingers, thumb in proper position, can perform fine and thick clamp. Asymmetric pelvic extremities with bilateral proximal femoral angular deformity, barlow and ortolani negative bilateral positive piston, bilateral positive yawning sign, positive drainage test for anterior and posterior of both knees, and ankle without alterations, preserved distal mobility. Brighton criteria of 8 points (touching the ground with the palms was not possible) . In all radiographic projections, metaphyseal rarefaction, proximal femur, distal, proximal tibia, as well as proximal and distal humerus, radius and cubit are observed. Radiographic FindingsPulmonary perfusion scan: low uptake of right lower lobe and bilateral apices.

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“…The proposed pathogenesis has been the effect of elastin deficiency on the function of many genes, leading to multisystemic symptoms ranging from progeria to mental retardation [2]. Cutis laxa, Williams syndrome, and non-syndromic supravalvular aortic stenosis are other disorders associated with elastin deficiencies [19].…”

Section: Discussionmentioning

confidence: 99%